Variant report

Variant	esv3324918
Chromosome Location	chr19:45250737-45253285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:653)
CpG islands
(count:672)
Chromatin interactive
region (count:19)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:45252043-45252132	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:45251363-45251524	K562	blood:	n/a	n/a
3	ARID3A	chr19:45250879-45251012	K562	blood:	n/a	n/a
4	ATF3	chr19:45249863-45251739	A549	lung:	n/a	chr19:45250675-45250684 chr19:45250751-45250760
5	ATF3	chr19:45250657-45251094	K562	blood:	n/a	chr19:45250675-45250684 chr19:45250751-45250760
6	ATF3	chr19:45251088-45251679	A549	lung:	n/a	n/a
7	BACH1	chr19:45250795-45251582	H1-hESC	embryonic stem cell:	n/a	chr19:45250876-45250890
8	BCL11A	chr19:45251867-45252212	GM12878	blood:	n/a	n/a
9	BCL3	chr19:45251640-45252239	GM12878	blood:	n/a	n/a
10	BCL3	chr19:45248078-45253687	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
11	BCL3	chr19:45250557-45251029	GM12878	blood:	n/a	chr19:45250739-45250752 chr19:45250771-45250780
12	BCL3	chr19:45247680-45253680	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
13	BCLAF1	chr19:45251705-45252515	GM12878	blood:	n/a	n/a
14	BHLHE40	chr19:45250386-45251503	HepG2	liver:	n/a	chr19:45250742-45250758
15	BHLHE40	chr19:45250527-45251591	K562	blood:	n/a	chr19:45250742-45250758
16	BHLHE40	chr19:45250486-45252183	GM12878	blood:	n/a	chr19:45250742-45250758
17	BRCA1	chr19:45250676-45251032	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr19:45251331-45251557	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr19:45250846-45250890	GM12878	blood:	n/a	n/a
20	CBX3	chr19:45251190-45251583	K562	blood:	n/a	n/a
21	CBX3	chr19:45250405-45251168	K562	blood:	n/a	n/a
22	CCNT2	chr19:45250598-45251184	K562	blood:	n/a	chr19:45250751-45250760 chr19:45250675-45250684
23	CCNT2	chr19:45251528-45252374	K562	blood:	n/a	chr19:45251673-45251682
24	CEBPB	chr19:45250637-45251101	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr19:45251273-45251544	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr19:45250601-45251063	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr19:45251465-45251929	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr19:45250104-45252123	A549	lung:	n/a	n/a
29	CEBPB	chr19:45253015-45253102	K562	blood:	n/a	chr19:45253056-45253069
30	CEBPB	chr19:45252626-45253133	Hela-S3	cervix:	n/a	chr19:45253056-45253069
31	CEBPB	chr19:45252692-45253136	A549	lung:	n/a	chr19:45253056-45253069
32	CEBPB	chr19:45252644-45252964	IMR90	lung:	n/a	n/a
33	CEBPD	chr19:45251567-45252309	HepG2	liver:	n/a	n/a
34	CEBPD	chr19:45250280-45251181	HepG2	liver:	n/a	n/a
35	CEBPD	chr19:45251692-45251978	HepG2	liver:	n/a	n/a
36	CHD1	chr19:45250797-45251130	GM12878	blood:	n/a	n/a
37	CHD1	chr19:45250110-45253686	IMR90	lung:	n/a	chr19:45251838-45251848
38	CHD1	chr19:45251912-45252484	GM12878	blood:	n/a	n/a
39	CHD2	chr19:45251581-45252094	Hela-S3	cervix:	n/a	chr19:45251838-45251848
40	CHD2	chr19:45250935-45250958	K562	blood:	n/a	n/a
41	CHD2	chr19:45250369-45252071	GM12878	blood:	n/a	chr19:45251838-45251848
42	CHD2	chr19:45252347-45252368	GM12878	blood:	n/a	n/a
43	CHD2	chr19:45250732-45250993	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr19:45252025-45252063	HepG2	liver:	n/a	n/a
45	CHD2	chr19:45250533-45251347	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr19:45250702-45250948	HepG2	liver:	n/a	n/a
47	CREB1	chr19:45250298-45252276	A549	lung:	n/a	n/a
48	CTCF	chr19:45252280-45252430	GM12867	blood:	n/a	n/a
49	CTCF	chr19:45252100-45252250	GM12864	blood:	n/a	n/a
50	CTCF	chr19:45252080-45252230	GM12865	blood:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45251911-45251961	AG09309	skin:	n/a
2	chr19:45251911-45251961	AG09309	skin:	n/a
3	chr19:45251874-45251924	HPAEpiC	pulmonary alveolar:	n/a
4	chr19:45252329-45252379	SAEC	small airway:	n/a
5	chr19:45251180-45251230	ProgFib	skin:	n/a
6	chr19:45252329-45252379	HNPCEpiC	eye:	n/a
7	chr19:45251919-45251969	GM06990	blood:	n/a
8	chr19:45250754-45250804	NB4	blood:	n/a
9	chr19:45251911-45251961	HRCEpiC	kidney:	n/a
10	chr19:45250754-45250804	HRPEpiC	eye:	n/a
11	chr19:45251903-45251953	HUVEC	blood vessel:	n/a
12	chr19:45251551-45251601	HEEpiC	esophagus:	n/a
13	chr19:45251551-45251601	MCF-7	breast:	n/a
14	chr19:45251551-45251601	HRPEpiC	eye:	n/a
15	chr19:45251551-45251601	AG04450	lung:	fetal
16	chr19:45251874-45251924	H1-hESC	embryonic stem cell:	embryo
17	chr19:45251874-45251924	HIPEpiC	eye:	n/a
18	chr19:45251986-45252036	CMK	blood:	n/a
19	chr19:45250754-45250804	HAEpiC	amniotic membrane:	n/a
20	chr19:45252329-45252379	HRCEpiC	kidney:	n/a
21	chr19:45252329-45252379	NB4	blood:	n/a
22	chr19:45252329-45252379	HCF	heart:	n/a
23	chr19:45251180-45251230	HRE	kidney:	n/a
24	chr19:45251986-45252036	SAEC	small airway:	n/a
25	chr19:45251911-45251961	HPAEpiC	pulmonary alveolar:	n/a
26	chr19:45251874-45251924	HCT-116	colon:	n/a
27	chr19:45252955-45253005	AG04450	lung:	fetal
28	chr19:45251986-45252036	NHBE	bronchial:	n/a
29	chr19:45251903-45251953	GM12891	blood:	n/a
30	chr19:45251919-45251969	GM12878	blood:	n/a
31	chr19:45252955-45253005	NT2-D1	testis:	n/a
32	chr19:45250754-45250804	HEEpiC	esophagus:	n/a
33	chr19:45251986-45252036	AG10803	skin:	n/a
34	chr19:45252955-45253005	HRPEpiC	eye:	n/a
35	chr19:45251925-45251975	AG04449	skin:	fetal
36	chr19:45251925-45251975	AoSMC	blood vessel:	n/a
37	chr19:45252955-45253005	GM19239	blood:	n/a
38	chr19:45251911-45251961	HRE	kidney:	n/a
39	chr19:45251551-45251601	SAEC	small airway:	n/a
40	chr19:45251919-45251969	ECC-1	luminal epithelium:	n/a
41	chr19:45251874-45251924	LNCaP	prostate:	n/a
42	chr19:45252329-45252379	BJ	skin:	n/a
43	chr19:45251180-45251230	MCF-7	breast:	n/a
44	chr19:45252329-45252379	HRPEpiC	eye:	n/a
45	chr19:45251911-45251961	GM12891	blood:	n/a
46	chr19:45252955-45253005	HIPEpiC	eye:	n/a
47	chr19:45251551-45251601	AG04449	skin:	fetal
48	chr19:45251874-45251924	RPTEC	kidney:	n/a
49	chr19:45251874-45251924	AoSMC	blood vessel:	n/a
50	chr19:45251180-45251230	HUVEC	blood vessel:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:
2	chr19:45173518..45176542-chr19:45249418..45252711,3	MCF-7	breast:
3	chr16:75682151..75683053-chr19:45252133..45253014,2	Hela-S3	cervix:
4	chr19:45250268..45252334-chr19:45593239..45597540,3	MCF-7	breast:
5	chr19:45252359..45252902-chr9:34179841..34180546,2	Hela-S3	cervix:
6	chr19:45252003..45254960-chr19:45323071..45325536,2	K562	blood:
7	chr19:45250044..45254049-chr19:45347224..45351011,6	MCF-7	breast:
8	chr19:45164861..45166953-chr19:45250378..45253353,2	MCF-7	breast:
9	chr19:45192326..45193138-chr19:45251815..45252367,2	MCF-7	breast:
10	chr19:45180699..45183749-chr19:45249057..45252629,3	MCF-7	breast:
11	chr19:45250646..45253385-chr19:45348787..45352398,5	MCF-7	breast:
12	chr19:45252053..45254233-chr19:45351379..45354120,2	MCF-7	breast:
13	chr17:79936078..79936868-chr19:45251918..45252553,2	Hela-S3	cervix:
14	chr19:45251797..45254336-chr19:45349633..45353327,3	K562	blood:
15	chr19:45198197..45200350-chr19:45252403..45254162,3	K562	blood:
16	chr19:45175686..45178014-chr19:45252899..45254725,2	MCF-7	breast:
17	chr19:45150946..45153817-chr19:45251773..45254167,2	MCF-7	breast:
18	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
19	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL3-1	chr19:45249841-45250906	XLOC_013095
2	lnc-ZNF180-2	chr19:45249367-45250906	XLOC_013356
3	lnc-CBLC-4	chr19:45251952-45252261	NONHSAT066718
4	lnc-CBLC-4	chr19:45251093-45251385	NONHSAT066718

No data

Variant related genes	Relation type
BCL3	TF binding region
BCL3	CpG island
ENSG00000252200	chromatin interactions
ENSG00000187244	chromatin interactions
ENSG00000267348	chromatin interactions
ENSG00000130202	chromatin interactions
ENSG00000065427	chromatin interactions
ENSG00000186567	chromatin interactions
ENSG00000166848	chromatin interactions
ENSG00000073008	chromatin interactions
ENSG00000104866	chromatin interactions
CBX7	miRNA target sites

Extended variants
information (count: 60 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185003699	chr19:45250793-45250794	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs571632088	chr19:45250808-45250809	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs539326298	chr19:45250810-45250811	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs553235256	chr19:45250822-45250823	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs573037274	chr19:45250886-45250887	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs873470	chr19:45250916-45250917	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs374753022	chr19:45250992-45250993	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs368829775	chr19:45250994-45250995	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs555500513	chr19:45251116-45251117	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs2965169	chr19:45251156-45251157	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs544210174	chr19:45251194-45251195	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs35315120	chr19:45251207-45251208	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs111690424	chr19:45251228-45251229	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs570854776	chr19:45251258-45251259	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs532961857	chr19:45251300-45251301	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs376952133	chr19:45251348-45251349	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs138482264	chr19:45251358-45251359	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs539447834	chr19:45251397-45251398	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs529436318	chr19:45251450-45251451	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs551876383	chr19:45251472-45251473	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs2927459	chr19:45251505-45251506	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568996272	chr19:45251535-45251536	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs531660643	chr19:45251806-45251807	Bivalent/Poised TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs551873917	chr19:45251832-45251833	Bivalent/Poised TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs188322687	chr19:45251915-45251916	Bivalent/Poised TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs571505172	chr19:45252140-45252141	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
27	rs534211044	chr19:45252176-45252177	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
28	rs145447711	chr19:45252250-45252251	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
29	rs373183384	chr19:45252291-45252292	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs546571221	chr19:45252313-45252314	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs377290691	chr19:45252352-45252353	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs566821970	chr19:45252413-45252414	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs7257231	chr19:45252439-45252440	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555632880	chr19:45252513-45252514	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs557196641	chr19:45252541-45252542	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs34390099	chr19:45252553-45252554	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs368665280	chr19:45252585-45252586	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs575524255	chr19:45252591-45252592	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs375077157	chr19:45252647-45252648	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs537034092	chr19:45252652-45252653	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs537514067	chr19:45252668-45252669	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs557835449	chr19:45252688-45252689	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs143432496	chr19:45252715-45252716	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs10566161	chr19:45252717-45252718	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs141487062	chr19:45252871-45252872	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs540262977	chr19:45252924-45252925	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs193046509	chr19:45252986-45252987	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs185267410	chr19:45252987-45252988	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs189145652	chr19:45253022-45253023	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs73936957	chr19:45253034-45253035	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45243800-45252000	Weak transcription	Gastric	stomach
2	chr19:45247600-45251000	Enhancers	NHDF-Ad	bronchial
3	chr19:45247800-45251000	Enhancers	Stomach Mucosa	stomach
4	chr19:45247800-45251000	Enhancers	Spleen	Spleen
5	chr19:45248200-45250800	Enhancers	Esophagus	oesophagus
6	chr19:45248200-45251000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:45248200-45251600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr19:45249600-45251400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:45249800-45250800	Flanking Active TSS	A549	lung
10	chr19:45249800-45251600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr19:45249800-45253200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:45250000-45250800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:45250000-45250800	Enhancers	Primary hematopoietic stem cells	blood
14	chr19:45250000-45250800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:45250000-45250800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:45250000-45250800	Enhancers	Small Intestine	intestine
17	chr19:45250000-45251000	Enhancers	Fetal Heart	heart
18	chr19:45250000-45251600	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr19:45250200-45250800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr19:45250200-45250800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr19:45250200-45250800	Enhancers	Brain Cingulate Gyrus	brain
22	chr19:45250200-45250800	Enhancers	Fetal Lung	lung
23	chr19:45250200-45250800	Bivalent Enhancer	Fetal Thymus	thymus
24	chr19:45250200-45250800	Enhancers	Pancreas	Pancrea
25	chr19:45250200-45250800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr19:45250200-45250800	Enhancers	HMEC	breast
27	chr19:45250200-45251200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:45250200-45251600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:45250200-45251600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:45250200-45251600	Flanking Active TSS	GM12878-XiMat	blood
31	chr19:45250200-45252400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr19:45250200-45252800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr19:45250200-45252800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr19:45250200-45252800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr19:45250400-45250800	Enhancers	Primary B cells from cord blood	blood
36	chr19:45250400-45250800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:45250400-45250800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:45250400-45251000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:45250400-45251000	Bivalent Enhancer	Fetal Brain Male	brain
40	chr19:45250400-45251000	Weak transcription	Lung	lung
41	chr19:45250400-45251200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:45250400-45251200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:45250400-45251200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr19:45250400-45251200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr19:45250400-45251600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:45250400-45251600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr19:45250400-45251600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr19:45250400-45251600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr19:45250400-45251600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr19:45250400-45251600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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