Variant report

Variant	nsv592035
Chromosome Location	chr3:150478018-150481021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:834)
CpG islands
(count:427)
Chromatin interactive
region (count:35)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:150480940-150481121	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:150478321-150478599	K562	blood:	n/a	n/a
3	ARID3A	chr3:150477851-150478064	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:150479387-150479661	K562	blood:	n/a	n/a
5	ATF2	chr3:150477935-150478865	GM12878	blood:	n/a	n/a
6	ATF2	chr3:150480894-150482108	GM12878	blood:	n/a	chr3:150480943-150480957
7	ATF2	chr3:150477978-150478809	GM12878	blood:	n/a	n/a
8	ATF3	chr3:150480753-150481109	K562	blood:	n/a	n/a
9	ATF3	chr3:150480818-150481224	K562	blood:	n/a	n/a
10	ATF3	chr3:150480649-150481492	A549	lung:	n/a	n/a
11	ATF3	chr3:150480746-150481127	HepG2	liver:	n/a	n/a
12	BACH1	chr3:150480818-150481889	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr3:150478381-150478837	GM12878	blood:	n/a	n/a
14	BCL11A	chr3:150478302-150478696	GM12878	blood:	n/a	chr3:150478323-150478332
15	BCL3	chr3:150480798-150481274	GM12878	blood:	n/a	chr3:150480817-150480830
16	BCL3	chr3:150478029-150478765	GM12878	blood:	n/a	chr3:150478323-150478332
17	BCL3	chr3:150480727-150481555	GM12878	blood:	n/a	chr3:150480817-150480830
18	BCLAF1	chr3:150478062-150479041	GM12878	blood:	n/a	chr3:150478323-150478332
19	BCLAF1	chr3:150480702-150482136	GM12878	blood:	n/a	chr3:150480817-150480830
20	BCLAF1	chr3:150480807-150482057	GM12878	blood:	n/a	chr3:150480817-150480830
21	BHLHE40	chr3:150478160-150478220	K562	blood:	n/a	n/a
22	BHLHE40	chr3:150480726-150481935	GM12878	blood:	n/a	n/a
23	BHLHE40	chr3:150478572-150478639	K562	blood:	n/a	n/a
24	BHLHE40	chr3:150480766-150482035	HepG2	liver:	n/a	n/a
25	BHLHE40	chr3:150480218-150480367	K562	blood:	n/a	n/a
26	BHLHE40	chr3:150478279-150478758	GM12878	blood:	n/a	n/a
27	BHLHE40	chr3:150480786-150482009	K562	blood:	n/a	n/a
28	BHLHE40	chr3:150479641-150479998	K562	blood:	n/a	n/a
29	BRCA1	chr3:150479697-150479949	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr3:150480858-150482222	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr3:150480990-150480992	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr3:150480898-150481140	HepG2	liver:	n/a	n/a
33	CBX3	chr3:150480834-150482040	K562	blood:	n/a	n/a
34	CCNT2	chr3:150479790-150481952	K562	blood:	n/a	n/a
35	CEBPB	chr3:150480741-150481962	MCF-7	breast:	n/a	n/a
36	CEBPB	chr3:150480798-150481133	K562	blood:	n/a	n/a
37	CEBPB	chr3:150480268-150480363	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr3:150480839-150481111	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr3:150480787-150481115	HepG2	liver:	n/a	n/a
40	CEBPB	chr3:150480794-150481214	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr3:150480636-150481249	A549	lung:	n/a	n/a
42	CEBPB	chr3:150480777-150481885	IMR90	lung:	n/a	n/a
43	CEBPB	chr3:150480819-150481050	HepG2	liver:	n/a	n/a
44	CEBPB	chr3:150480779-150481303	HepG2	liver:	n/a	n/a
45	CEBPB	chr3:150480858-150481078	A549	lung:	n/a	n/a
46	CEBPB	chr3:150480769-150481953	A549	lung:	n/a	n/a
47	CEBPB	chr3:150480239-150481904	HepG2	liver:	n/a	n/a
48	CEBPB	chr3:150480753-150482032	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr3:150477921-150478902	GM12878	blood:	n/a	n/a
50	CEBPD	chr3:150480751-150481643	HepG2	liver:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150479760-150479810	GM12878	blood:	n/a
2	chr3:150479760-150479810	AG10803	skin:	n/a
3	chr3:150479830-150479880	A549	lung:	n/a
4	chr3:150480910-150480960	SK-N-MC	brain:	n/a
5	chr3:150479084-150479134	SK-N-SH_RA	brain:	n/a
6	chr3:150480280-150480330	HIPEpiC	eye:	n/a
7	chr3:150479830-150479880	HCT-116	colon:	n/a
8	chr3:150479915-150479965	SK-N-SH	brain:	n/a
9	chr3:150479760-150479810	HPAEpiC	pulmonary alveolar:	n/a
10	chr3:150479760-150479810	SK-N-SH_RA	brain:	n/a
11	chr3:150479915-150479965	GM12878	blood:	n/a
12	chr3:150480280-150480330	BJ	skin:	n/a
13	chr3:150480280-150480330	GM12878	blood:	n/a
14	chr3:150480033-150480083	HCT-116	colon:	n/a
15	chr3:150480910-150480960	CMK	blood:	n/a
16	chr3:150479760-150479810	ProgFib	skin:	n/a
17	chr3:150480033-150480083	MCF-7	breast:	n/a
18	chr3:150480280-150480330	H1-hESC	embryonic stem cell:	embryo
19	chr3:150480280-150480330	HEK293	kidney:	embryo
20	chr3:150479084-150479134	HNPCEpiC	eye:	n/a
21	chr3:150479084-150479134	IMR90	lung:	fetal
22	chr3:150480910-150480960	GM06990	blood:	n/a
23	chr3:150479760-150479810	HCM	heart:	n/a
24	chr3:150479760-150479810	HNPCEpiC	eye:	n/a
25	chr3:150480280-150480330	Caco-2	colon:	n/a
26	chr3:150480910-150480960	BE2_C	brain:	n/a
27	chr3:150480033-150480083	Hela-S3	cervix:	n/a
28	chr3:150479084-150479134	SKMC	muscle:	n/a
29	chr3:150479760-150479810	BJ	skin:	n/a
30	chr3:150480280-150480330	PFSK-1	brain:	n/a
31	chr3:150479084-150479134	MCF10A-Er-Src	breast:	n/a
32	chr3:150480910-150480960	GM12892	blood:	n/a
33	chr3:150480910-150480960	GM12878	blood:	n/a
34	chr3:150479084-150479134	HIPEpiC	eye:	n/a
35	chr3:150480910-150480960	Hepatocyte	liver:	n/a
36	chr3:150480280-150480330	HRCEpiC	kidney:	n/a
37	chr3:150479915-150479965	NB4	blood:	n/a
38	chr3:150479760-150479810	HCPEpiC	choroid plexus:	n/a
39	chr3:150479084-150479134	AoSMC	blood vessel:	n/a
40	chr3:150480910-150480960	AG10803	skin:	n/a
41	chr3:150479084-150479134	BE2_C	brain:	n/a
42	chr3:150480910-150480960	K562	blood:	n/a
43	chr3:150480910-150480960	ProgFib	skin:	n/a
44	chr3:150479760-150479810	AG09319	gingival:	n/a
45	chr3:150480033-150480083	SK-N-SH	brain:	n/a
46	chr3:150479084-150479134	SK-N-SH	brain:	n/a
47	chr3:150480910-150480960	AG09319	gingival:	n/a
48	chr3:150479084-150479134	LNCaP	prostate:	n/a
49	chr3:150480280-150480330	GM06990	blood:	n/a
50	chr3:150480033-150480083	SAEC	small airway:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150480179..150481920-chr5:81573122..81575962,2	MCF-7	breast:
2	chr1:153963076..153963645-chr3:150480602..150481470,2	Hela-S3	cervix:
3	chr3:150480434..150481052-chr7:45960362..45960974,2	Hela-S3	cervix:
4	chr16:691658..692362-chr3:150480554..150481520,2	Hela-S3	cervix:
5	chr1:161087567..161088346-chr3:150480467..150481143,2	Hela-S3	cervix:
6	chr3:150379555..150382214-chr3:150476705..150479002,2	K562	blood:
7	chr1:1821467..1822293-chr3:150480860..150481460,2	Hela-S3	cervix:
8	chr3:150480176..150481089-chr5:40680039..40680660,2	Hela-S3	cervix:
9	chr3:150419019..150423394-chr3:150479448..150481415,4	MCF-7	breast:
10	chr16:18812446..18813204-chr3:150480815..150481315,2	Hela-S3	cervix:
11	chr15:71588021..71588700-chr3:150480360..150481079,2	Hela-S3	cervix:
12	chr12:123717282..123717840-chr3:150480496..150481372,2	Hela-S3	cervix:
13	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
14	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:
15	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
16	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
17	chr3:150421205..150424923-chr3:150480120..150484463,5	MCF-7	breast:
18	chr20:62496000..62496902-chr3:150480890..150481564,2	Hela-S3	cervix:
19	chr3:150476989..150478844-chr3:150495018..150496645,2	MCF-7	breast:
20	chr3:150479690..150481282-chr6:76352345..76354574,2	MCF-7	breast:
21	chr11:65340013..65340621-chr3:150479913..150480913,2	Hela-S3	cervix:
22	chr3:149094494..149095113-chr3:150480059..150480937,2	Hela-S3	cervix:
23	chr1:147735548..147736307-chr3:150480950..150481574,2	HCT-116	colon:
24	chr3:150328265..150331845-chr3:150479203..150481571,3	K562	blood:
25	chr3:150480540..150481237-chr6:26020610..26021240,2	Hela-S3	cervix:
26	chr12:112037035..112037635-chr3:150480512..150481076,2	Hela-S3	cervix:
27	chr3:150399970..150401503-chr3:150480432..150482241,2	K562	blood:
28	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
29	chr3:101280431..101281099-chr3:150480190..150481106,2	Hela-S3	cervix:
30	chr1:165600104..165600758-chr3:150480533..150481145,2	Hela-S3	cervix:
31	chr1:17231305..17231818-chr3:150479779..150480451,2	Hela-S3	cervix:
32	chr1:179851119..179851848-chr3:150479575..150480206,2	Hela-S3	cervix:
33	chr3:150263797..150265530-chr3:150478854..150481327,3	MCF-7	breast:
34	chr3:150261800..150265866-chr3:150477764..150484308,7	MCF-7	breast:
35	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-392O18.1.1-2	chr3:150480124-150480325	ENSG00000244265.1
2	lnc-RP11-392O18.1.1-2	chr3:150479724-150479962	ENSG00000244265.1

No data

Variant related genes	Relation type
SIAH2-AS1	TF binding region
SIAH2-AS1	CpG island
ENSG00000158793	chromatin interactions
ENSG00000186468	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000197727	chromatin interactions
ENSG00000101150	chromatin interactions
ENSG00000199879	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000271711	chromatin interactions
ENSG00000240137	chromatin interactions
ENSG00000205464	chromatin interactions
ENSG00000172366	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000163645	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000078369	chromatin interactions
ENSG00000252498	chromatin interactions
ENSG00000204842	chromatin interactions
ENSG00000143256	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000143198	chromatin interactions
ENSG00000244668	chromatin interactions
ENSG00000146674	chromatin interactions
ENSG00000258099	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000198843	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000174173	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11717897	chr3:150478018-150478019	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
2	rs182247926	chr3:150478058-150478059	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs528628528	chr3:150478112-150478113	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs77703350	chr3:150478125-150478126	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs552383239	chr3:150478253-150478254	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs369860637	chr3:150478263-150478264	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs576338110	chr3:150478280-150478281	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs565270199	chr3:150478289-150478290	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs112351775	chr3:150478292-150478293	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs543932785	chr3:150478348-150478349	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs550597300	chr3:150478360-150478361	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs371124023	chr3:150478386-150478387	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs562034722	chr3:150478485-150478486	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs567101781	chr3:150478492-150478493	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs529802739	chr3:150478497-150478498	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs185988806	chr3:150478511-150478512	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs566692781	chr3:150478530-150478531	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs538865881	chr3:150478560-150478561	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs552386983	chr3:150478574-150478575	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs190661955	chr3:150478580-150478581	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs182900380	chr3:150478593-150478594	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs537749002	chr3:150478599-150478600	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs576591126	chr3:150478629-150478630	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs529950652	chr3:150478635-150478636	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs145110278	chr3:150478647-150478648	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs147867347	chr3:150478690-150478691	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs570531771	chr3:150478719-150478720	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs553023030	chr3:150478754-150478755	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs560467340	chr3:150478759-150478760	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs113621235	chr3:150478767-150478768	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs545236425	chr3:150478772-150478773	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs527547442	chr3:150478793-150478794	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs552221908	chr3:150478805-150478806	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs565134303	chr3:150478807-150478808	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs374225253	chr3:150478986-150478987	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs575533543	chr3:150479015-150479016	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs115045536	chr3:150479065-150479066	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs117960604	chr3:150479068-150479069	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs1915365	chr3:150479070-150479071	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546555459	chr3:150479075-150479076	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs537426823	chr3:150479104-150479105	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs140215817	chr3:150479111-150479112	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs532238269	chr3:150479130-150479131	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs187002152	chr3:150479140-150479141	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs75445178	chr3:150479149-150479150	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs114737217	chr3:150479162-150479163	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs548151795	chr3:150479169-150479170	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs567675280	chr3:150479179-150479180	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs190267941	chr3:150479199-150479200	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs552939246	chr3:150479230-150479231	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150457000-150478800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:150463000-150478400	Weak transcription	HSMM	muscle
3	chr3:150470000-150478800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:150471200-150479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:150471600-150479600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:150473800-150478200	Enhancers	Fetal Heart	heart
7	chr3:150474000-150478800	Enhancers	Small Intestine	intestine
8	chr3:150475000-150479800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
9	chr3:150475400-150480400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:150476200-150478200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:150477000-150478200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:150477000-150478200	Enhancers	HMEC	breast
13	chr3:150477000-150478400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:150477000-150479000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:150477000-150479400	Flanking Active TSS	Liver	Liver
16	chr3:150477000-150479400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr3:150477200-150478200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:150477200-150478200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr3:150477200-150479800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr3:150477200-150480400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr3:150477400-150478200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:150477400-150478200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:150477400-150478200	Flanking Active TSS	GM12878-XiMat	blood
24	chr3:150477400-150478200	Transcr. at gene 5' and 3'	NHEK	skin
25	chr3:150477400-150478400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:150477400-150478600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:150477400-150478800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:150477400-150480000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:150477600-150478200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:150477600-150478200	Enhancers	Aorta	Aorta
31	chr3:150477600-150478200	Enhancers	Brain Hippocampus Middle	brain
32	chr3:150477600-150478200	Enhancers	Fetal Brain Male	brain
33	chr3:150477600-150478200	Enhancers	Fetal Lung	lung
34	chr3:150477600-150478200	Enhancers	Fetal Muscle Leg	muscle
35	chr3:150477600-150478200	Flanking Active TSS	Placenta	Placenta
36	chr3:150477600-150478200	Enhancers	Fetal Thymus	thymus
37	chr3:150477600-150478200	Enhancers	Lung	lung
38	chr3:150477600-150478200	Flanking Active TSS	Psoas Muscle	Psoas
39	chr3:150477600-150478400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:150477600-150478600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:150477600-150478600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:150477600-150479000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr3:150477600-150479200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:150477600-150479200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr3:150477600-150479200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr3:150477600-150479200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr3:150477600-150479600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:150477600-150479600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr3:150477600-150479800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr3:150477600-150480200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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