Variant report

Variant	nsv1067849
Chromosome Location	chr3:23960157-23962549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:328)
CpG islands
(count:122)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:23962295-23963033	K562	blood:	n/a	n/a
2	ATF2	chr3:23961107-23963189	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr3:23961253-23962227	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:23961216-23963250	GM12878	blood:	n/a	n/a
5	ATF2	chr3:23961592-23963025	GM12878	blood:	n/a	n/a
6	ATF2	chr3:23962388-23963029	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr3:23962413-23963202	A549	lung:	n/a	n/a
8	BACH1	chr3:23961987-23962135	K562	blood:	n/a	n/a
9	BACH1	chr3:23962437-23962661	K562	blood:	n/a	n/a
10	BCL3	chr3:23961412-23963239	A549	lung:	n/a	n/a
11	BCL3	chr3:23962441-23963077	A549	lung:	n/a	n/a
12	BCLAF1	chr3:23961559-23962097	GM12878	blood:	n/a	n/a
13	BCLAF1	chr3:23962404-23963198	GM12878	blood:	n/a	n/a
14	BCLAF1	chr3:23962260-23963040	GM12878	blood:	n/a	n/a
15	BHLHE40	chr3:23961249-23961420	GM12878	blood:	n/a	n/a
16	CBX3	chr3:23962462-23963029	K562	blood:	n/a	n/a
17	CCNT2	chr3:23960117-23960287	K562	blood:	n/a	n/a
18	CCNT2	chr3:23962308-23963015	K562	blood:	n/a	n/a
19	CEBPB	chr3:23959953-23960255	K562	blood:	n/a	n/a
20	CEBPB	chr3:23961917-23962261	K562	blood:	n/a	n/a
21	CEBPB	chr3:23960048-23960260	Hela-S3	cervix:	n/a	n/a
22	CHD1	chr3:23960208-23960648	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr3:23957214-23960192	IMR90	lung:	n/a	n/a
24	CHD1	chr3:23961814-23962308	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr3:23961579-23962040	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr3:23961266-23963037	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr3:23962217-23963078	K562	blood:	n/a	n/a
28	CTCF	chr3:23960778-23960950	LNCaP	prostate:	n/a	n/a
29	CTCF	chr3:23960829-23960896	LNCaP	prostate:	n/a	n/a
30	CTCF	chr3:23960814-23961032	T-47D	breast:	n/a	n/a
31	CTCF	chr3:23960732-23961023	K562	blood:	n/a	n/a
32	CTCF	chr3:23960743-23960950	A549	lung:	n/a	n/a
33	CTCF	chr3:23960610-23961088	A549	lung:	n/a	n/a
34	CTCF	chr3:23960879-23960924	MCF-7	breast:	n/a	n/a
35	CTCF	chr3:23960731-23961009	K562	blood:	n/a	n/a
36	CTCF	chr3:23960557-23960758	T-47D	breast:	n/a	n/a
37	CTCF	chr3:23960886-23960917	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:23960847-23960979	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr3:23960638-23960998	A549	lung:	n/a	n/a
40	CUX1	chr3:23962001-23962785	K562	blood:	n/a	n/a
41	CUX1	chr3:23960716-23960729	K562	blood:	n/a	n/a
42	EGR1	chr3:23960815-23961011	K562	blood:	n/a	n/a
43	ELF1	chr3:23962433-23962864	A549	lung:	n/a	n/a
44	ELF1	chr3:23962502-23962996	GM12878	blood:	n/a	n/a
45	EP300	chr3:23960790-23960995	T-47D	breast:	n/a	n/a
46	EP300	chr3:23962182-23962536	K562	blood:	n/a	n/a
47	GATA3	chr3:23961846-23963079	A549	lung:	n/a	n/a
48	GTF2F1	chr3:23961688-23962006	Hela-S3	cervix:	n/a	n/a
49	GTF2F1	chr3:23962339-23962973	K562	blood:	n/a	n/a
50	HCFC1	chr3:23962512-23963039	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:23960290-23960340	GM06990	blood:	n/a
2	chr3:23960290-23960340	K562	blood:	n/a
3	chr3:23960290-23960340	SK-N-SH_RA	brain:	n/a
4	chr3:23961713-23961763	BE2_C	brain:	n/a
5	chr3:23960290-23960340	NHDF-neo	bronchial:	n/a
6	chr3:23961713-23961763	Hela-S3	cervix:	n/a
7	chr3:23960290-23960340	SKMC	muscle:	n/a
8	chr3:23960290-23960340	PrEC	prostate:	n/a
9	chr3:23960290-23960340	ProgFib	skin:	n/a
10	chr3:23960290-23960340	NHBE	bronchial:	n/a
11	chr3:23960290-23960340	AoSMC	blood vessel:	n/a
12	chr3:23961713-23961763	MCF10A-Er-Src	breast:	n/a
13	chr3:23960290-23960340	GM12891	blood:	n/a
14	chr3:23961713-23961763	HRE	kidney:	n/a
15	chr3:23961713-23961763	MCF-7	breast:	n/a
16	chr3:23960290-23960340	ECC-1	luminal epithelium:	n/a
17	chr3:23960290-23960340	HRPEpiC	eye:	n/a
18	chr3:23961713-23961763	SK-N-SH_RA	brain:	n/a
19	chr3:23961713-23961763	K562	blood:	n/a
20	chr3:23960290-23960340	Hepatocyte	liver:	n/a
21	chr3:23961713-23961763	CMK	blood:	n/a
22	chr3:23961713-23961763	HMEC	breast:	n/a
23	chr3:23960290-23960340	AG04449	skin:	fetal
24	chr3:23961713-23961763	SK-N-SH	brain:	n/a
25	chr3:23960290-23960340	AG04450	lung:	fetal
26	chr3:23961713-23961763	NT2-D1	testis:	n/a
27	chr3:23961713-23961763	HL-60	blood:	n/a
28	chr3:23960290-23960340	PANC-1	pancreas:	n/a
29	chr3:23960290-23960340	HAEpiC	amniotic membrane:	n/a
30	chr3:23960290-23960340	IMR90	lung:	fetal
31	chr3:23960290-23960340	ovcar-3	ovarian:	n/a
32	chr3:23961713-23961763	NH-A	brain:	n/a
33	chr3:23961713-23961763	HCF	heart:	n/a
34	chr3:23960290-23960340	HCM	heart:	n/a
35	chr3:23961713-23961763	AG04449	skin:	fetal
36	chr3:23960290-23960340	HepG2	liver:	n/a
37	chr3:23961713-23961763	HCT-116	colon:	n/a
38	chr3:23960290-23960340	BE2_C	brain:	n/a
39	chr3:23961713-23961763	RPTEC	kidney:	n/a
40	chr3:23961713-23961763	LNCaP	prostate:	n/a
41	chr3:23960290-23960340	HRCEpiC	kidney:	n/a
42	chr3:23961713-23961763	GM12892	blood:	n/a
43	chr3:23961713-23961763	BJ	skin:	n/a
44	chr3:23960290-23960340	SK-N-SH	brain:	n/a
45	chr3:23961713-23961763	AG04450	lung:	fetal
46	chr3:23960290-23960340	AG10803	skin:	n/a
47	chr3:23961713-23961763	T-47D	breast:	n/a
48	chr3:23961713-23961763	NHDF-neo	bronchial:	n/a
49	chr3:23960290-23960340	HCF	heart:	n/a
50	chr3:23960290-23960340	MCF-7	breast:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23845393..23848355-chr3:23958587..23960710,4	K562	blood:
2	chr3:23850301..23853237-chr3:23957517..23960615,4	MCF-7	breast:
3	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:
4	chr3:23961452..23965156-chr3:23999587..24004253,5	MCF-7	breast:
5	chr3:23961544..23965594-chr3:24039129..24042717,4	K562	blood:
6	chr3:23960526..23962863-chr3:24013920..24016141,2	K562	blood:
7	chr3:23848988..23853074-chr3:23957156..23960234,5	K562	blood:
8	chr3:23748425..23751412-chr3:23960441..23962908,2	K562	blood:
9	chr3:23846380..23850116-chr3:23956700..23960461,6	MCF-7	breast:
10	chr3:23846543..23848626-chr3:23961090..23963497,2	K562	blood:
11	chr3:23958569..23960911-chr3:24534140..24537048,3	MCF-7	breast:
12	chr3:23961179..23963059-chr3:24534695..24537090,2	K562	blood:
13	chr1:203059673..203062550-chr3:23957552..23960185,2	MCF-7	breast:
14	chr3:23958536..23961065-chr3:24535525..24538143,3	K562	blood:
15	chr3:12873721..12876260-chr3:23958650..23961334,2	K562	blood:
16	chr3:23960922..23962761-chr3:24002838..24004607,2	K562	blood:
17	chr3:23926182..23928308-chr3:23961737..23963775,2	MCF-7	breast:
18	chr3:23051768..23053551-chr3:23960276..23962039,2	K562	blood:
19	chr3:23960325..23963916-chr3:24723703..24727555,4	MCF-7	breast:
20	chr3:23960619..23962438-chr3:24535920..24537440,2	MCF-7	breast:
21	chr3:23905396..23907030-chr3:23960105..23962888,2	K562	blood:
22	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
23	chr17:58167241..58170093-chr3:23957521..23960210,2	MCF-7	breast:
24	chr3:23931925..23934532-chr3:23961376..23962926,2	MCF-7	breast:
25	chr3:23852479..23855481-chr3:23956917..23960502,4	MCF-7	breast:
26	chr3:23742842..23745448-chr3:23959508..23961357,2	K562	blood:
27	chr3:23845112..23848622-chr3:23958029..23961906,4	K562	blood:
28	chr3:23928269..23930887-chr3:23960946..23963532,2	MCF-7	breast:

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RPL15	hsa-miR-342-3p	chr3:23961662-23961685
2	RPL15	hsa-miR-7-5p	chr3:23962006-23962029
3	RPL15	hsa-miR-504-5p	chr3:23962037-23962058
4	RPL15	hsa-miR-92a-3p	chr3:23961126-23961133
5	RPL15	hsa-miR-149-5p	chr3:23961631-23961653
6	RPL15	hsa-miR-92a-3p	chr3:23961112-23961133

Variant related genes	Relation type
NKIRAS1	TF binding region
NKIRAS1	CpG island
ENSG00000261040	chromatin interactions
ENSG00000197885	chromatin interactions
ENSG00000170142	chromatin interactions
ENSG00000223791	chromatin interactions
ENSG00000163485	chromatin interactions
ENSG00000228791	chromatin interactions
ENSG00000272263	chromatin interactions
ENSG00000174738	chromatin interactions
ENSG00000151090	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35566344	chr3:23960167-23960168	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs185665988	chr3:23960242-23960243	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs562409815	chr3:23960247-23960248	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs138205939	chr3:23960253-23960254	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs572331444	chr3:23960291-23960292	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs542796846	chr3:23960315-23960316	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs561294975	chr3:23960345-23960346	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs190182134	chr3:23960365-23960366	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs543462299	chr3:23960383-23960384	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs35756530	chr3:23960390-23960391	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs565248967	chr3:23960457-23960458	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs111878423	chr3:23960464-23960465	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs530973975	chr3:23960484-23960485	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs547900857	chr3:23960531-23960532	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs149580756	chr3:23960543-23960544	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs529958477	chr3:23960597-23960598	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs548399525	chr3:23960604-23960605	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs78134339	chr3:23960660-23960661	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs34832457	chr3:23960665-23960666	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs368646822	chr3:23960680-23960681	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs558281601	chr3:23960716-23960717	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs151218632	chr3:23960758-23960759	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs373453626	chr3:23960800-23960801	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs377507939	chr3:23960801-23960802	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs534301057	chr3:23960816-23960817	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs370700905	chr3:23960835-23960836	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs373573769	chr3:23960854-23960855	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs181790084	chr3:23960872-23960873	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs554703410	chr3:23960910-23960911	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs1064252	chr3:23960919-23960920	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs576343717	chr3:23960920-23960921	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs544066307	chr3:23960929-23960930	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs3951706	chr3:23960935-23960936	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs11547055	chr3:23960937-23960938	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs376990079	chr3:23960940-23960941	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs370345068	chr3:23960942-23960943	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs145762035	chr3:23960971-23960972	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs1057036	chr3:23960979-23960980	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs4024643	chr3:23960995-23960996	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs202240092	chr3:23961015-23961016	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs4024626	chr3:23961020-23961021	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs1141618	chr3:23961044-23961045	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs541060333	chr3:23961055-23961056	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs559932039	chr3:23961056-23961057	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs533444033	chr3:23961063-23961064	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs530168204	chr3:23961068-23961069	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs370139636	chr3:23961114-23961115	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region miRNA target site	8 gene(s)	Overlapped CNVs	n/a
48	rs548411638	chr3:23961131-23961132	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region miRNA target site	8 gene(s)	Overlapped CNVs	n/a
49	rs547148858	chr3:23961165-23961166	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs184786213	chr3:23961178-23961179	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23957000-23960400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:23957000-23960600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:23957000-23960600	Active TSS	Right Atrium	heart
4	chr3:23957200-23960200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:23957200-23960800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:23957400-23960800	Active TSS	Psoas Muscle	Psoas
7	chr3:23957400-23960800	Active TSS	Right Ventricle	heart
8	chr3:23957600-23960200	Active TSS	Fetal Intestine Small	intestine
9	chr3:23957600-23960800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:23957800-23960200	Active TSS	Esophagus	oesophagus
11	chr3:23957800-23960200	Active TSS	Lung	lung
12	chr3:23957800-23960200	Active TSS	Pancreas	Pancrea
13	chr3:23958200-23960600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:23958200-23960600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr3:23958400-23961200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:23958600-23960400	Transcr. at gene 5' and 3'	Thymus	Thymus
17	chr3:23958800-23960800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr3:23958800-23960800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
19	chr3:23958800-23960800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
20	chr3:23958800-23962000	Transcr. at gene 5' and 3'	A549	lung
21	chr3:23959000-23960600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
22	chr3:23959000-23962000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:23959200-23960400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
24	chr3:23959200-23960600	Transcr. at gene 5' and 3'	Dnd41	blood
25	chr3:23959200-23960800	Transcr. at gene 5' and 3'	Osteobl	bone
26	chr3:23959200-23961200	Transcr. at gene 5' and 3'	NHEK	skin
27	chr3:23959200-23961400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
28	chr3:23959200-23961800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:23959200-23961800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
30	chr3:23959200-23961800	Transcr. at gene 5' and 3'	K562	blood
31	chr3:23959200-23962000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
32	chr3:23959400-23960200	Transcr. at gene 5' and 3'	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:23959400-23960200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr3:23959400-23960200	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
35	chr3:23959400-23960200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr3:23959400-23960400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:23959400-23960400	Transcr. at gene 5' and 3'	Fetal Lung	lung
38	chr3:23959400-23960400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
39	chr3:23959400-23960600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
40	chr3:23959400-23960600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
41	chr3:23959400-23960600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:23959400-23960600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:23959400-23960600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr3:23959400-23960600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
45	chr3:23959400-23960600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
46	chr3:23959400-23960600	Transcr. at gene 5' and 3'	NHLF	lung
47	chr3:23959400-23960800	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:23959400-23960800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr3:23959400-23960800	Transcr. at gene 5' and 3'	HMEC	breast
50	chr3:23959400-23960800	Transcr. at gene 5' and 3'	HSMM	muscle

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