Variant report

Variant	rs73617839
Chromosome Location	chr19:55881225-55881226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55881220-55881577	HCT-116	colon:	n/a	n/a
2	SIN3AK20	chr19:55881104-55881852	A549	lung:	n/a	n/a
3	POLR2A	chr19:55881180-55881914	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr19:55881180-55881330	HBMEC	blood vessel:	n/a	n/a
5	ELF1	chr19:55881091-55881419	A549	lung:	n/a	n/a
6	ATF3	chr19:55881068-55881527	A549	lung:	n/a	chr19:55881199-55881208
7	BCL3	chr19:55881146-55882765	A549	lung:	n/a	chr19:55881514-55881523 chr19:55881694-55881703 chr19:55881774-55881787
8	PBX3	chr19:55880503-55882056	A549	lung:	n/a	chr19:55881464-55881473
9	POLR2A	chr19:55881213-55881606	MCF10A-Er-Src	breast:	n/a	n/a
10	MAZ	chr19:55879573-55882869	IMR90	lung:	n/a	chr19:55879994-55880003 chr19:55881877-55881887
11	POLR2A	chr19:55881183-55882692	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:55881216-55881372	Hela-S3	cervix:	n/a	n/a
13	CREB1	chr19:55881045-55881833	A549	lung:	n/a	n/a
14	ZBTB7A	chr19:55880407-55881871	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr19:55880988-55882187	A549	lung:	n/a	n/a
16	E2F6	chr19:55881058-55881276	K562	blood:	n/a	n/a
17	YY1	chr19:55881099-55881839	A549	lung:	n/a	chr19:55881749-55881763
18	CTCF	chr19:55881180-55881330	AG09319	gingival:	n/a	n/a
19	USF1	chr19:55881053-55881594	A549	lung:	n/a	chr19:55881373-55881389
20	POLR2A	chr19:55880160-55881712	MCF-7	breast:	n/a	n/a
21	PBX3	chr19:55880998-55882017	SK-N-SH	brain:	n/a	chr19:55881464-55881473
22	POLR2A	chr19:55881086-55882141	ProgFib	skin:	n/a	n/a
23	MAX	chr19:55881026-55882605	A549	lung:	n/a	chr19:55881877-55881887
24	ZBTB7A	chr19:55880423-55881860	ECC-1	luminal epithelium:	n/a	n/a
25	MAZ	chr19:55881207-55881727	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr19:55881200-55881350	NHEK	skin:	n/a	n/a
27	MAX	chr19:55881119-55881888	H1-hESC	embryonic stem cell:	n/a	chr19:55881877-55881887
28	SIX5	chr19:55881110-55881851	A549	lung:	n/a	n/a
29	REST	chr19:55881140-55881827	A549	lung:	n/a	chr19:55881749-55881762 chr19:55881620-55881633 chr19:55881257-55881270 chr19:55881375-55881388
30	POLR2A	chr19:55881044-55882194	A549	lung:	n/a	n/a
31	CHD2	chr19:55881221-55881390	H1-hESC	embryonic stem cell:	n/a	n/a
32	NFYB	chr19:55881073-55881546	Hela-S3	cervix:	n/a	chr19:55881461-55881476 chr19:55881464-55881474 chr19:55881463-55881476 chr19:55881462-55881476 chr19:55881463-55881478 chr19:55881461-55881476
33	CTCF	chr19:55881200-55881350	HBMEC	blood vessel:	n/a	n/a
34	POLR2A	chr19:55881054-55881840	A549	lung:	n/a	n/a
35	CHD1	chr19:55879027-55882893	IMR90	lung:	n/a	chr19:55881216-55881226 chr19:55879790-55879800
36	PBX3	chr19:55879930-55882619	A549	lung:	n/a	chr19:55881464-55881473 chr19:55882591-55882600
37	EP300	chr19:55881136-55881720	A549	lung:	n/a	chr19:55881216-55881232
38	CTCF	chr19:55881140-55881290	Caco-2	colon:	n/a	n/a
39	SP1	chr19:55880984-55882544	A549	lung:	n/a	chr19:55881711-55881720 chr19:55882079-55882093 chr19:55881390-55881399 chr19:55881706-55881720 chr19:55881876-55881888 chr19:55881454-55881475 chr19:55881268-55881277
40	GATA3	chr19:55880452-55882631	A549	lung:	n/a	n/a
41	SP1	chr19:55881045-55882481	A549	lung:	n/a	chr19:55881711-55881720 chr19:55882079-55882093 chr19:55881390-55881399 chr19:55881706-55881720 chr19:55881876-55881888 chr19:55881454-55881475 chr19:55881268-55881277
42	TCF12	chr19:55881012-55882632	A549	lung:	n/a	n/a
43	POLR2A	chr19:55881147-55882332	U87	brain:	n/a	n/a
44	CTCF	chr19:55881140-55881290	HEK293	kidney:	n/a	n/a
45	CTCF	chr19:55881180-55881330	HMEC	breast:	n/a	n/a
46	POLR2A	chr19:55880444-55882180	MCF-7	breast:	n/a	n/a
47	MAX	chr19:55881040-55882460	A549	lung:	n/a	chr19:55881877-55881887
48	POLR2A	chr19:55881135-55882261	Gliobla	brain:	n/a	n/a
49	CTCF	chr19:55881200-55881350	HCPEpiC	choroid plexus:	n/a	n/a
50	NFYB	chr19:55880977-55881520	K562	blood:	n/a	chr19:55881461-55881476 chr19:55881464-55881474 chr19:55881463-55881476 chr19:55881462-55881476 chr19:55881463-55881478 chr19:55881461-55881476

No.	Distal block	Cell Line	Cell type
1	chr19:55853165..55857260-chr19:55879821..55883048,3	MCF-7	breast:
2	chr19:55856384..55859080-chr19:55879922..55882670,2	K562	blood:
3	chr19:55880381..55884285-chr19:55886063..55890457,4	K562	blood:
4	chr19:55767450..55771021-chr19:55880319..55882334,3	MCF-7	breast:
5	chr19:55880628..55883032-chr19:55887908..55889776,2	K562	blood:
6	chr19:55857308..55859712-chr19:55880679..55883398,3	MCF-7	breast:
7	chr19:55851056..55852786-chr19:55880756..55882333,2	MCF-7	breast:
8	chr19:55865908..55868131-chr19:55880960..55883611,2	MCF-7	breast:
9	chr19:55849062..55852611-chr19:55879307..55883496,5	MCF-7	breast:
10	chr19:55864955..55867658-chr19:55880222..55883231,3	MCF-7	breast:

Variant related genes	Relation type
IL11	TF binding region
ENSG00000105063	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000269275	Chromatin interaction
ENSG00000160472	Chromatin interaction
ENSG00000160471	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10407001	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
4	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
5	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
6	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
10	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
11	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
12	esv1799638	chr19:55850652-55883879	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv516199	chr19:55854313-55901099	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
14	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
15	nsv912468	chr19:55872591-55883879	Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv912469	chr19:55872591-55888598	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
17	nsv912470	chr19:55872591-55897170	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	79 gene(s)	inside rSNPs	diseases
18	nsv912472	chr19:55873726-55888598	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
19	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
20	nsv912474	chr19:55874986-55883879	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
21	nsv912475	chr19:55874986-55888598	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
22	nsv544085	chr19:55875808-55911275	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
23	nsv912476	chr19:55876747-55897327	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55879800-55882000	Active TSS	HSMM	muscle
2	chr19:55880000-55882000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:55880000-55882200	Enhancers	Lung	lung
4	chr19:55880200-55881600	Enhancers	K562	blood
5	chr19:55880200-55881800	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr19:55880200-55882000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:55880200-55882000	Active TSS	A549	lung
8	chr19:55880200-55882200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:55880200-55882400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr19:55880400-55881400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr19:55880400-55881400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:55880400-55881400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
13	chr19:55880400-55881400	Active TSS	NHLF	lung
14	chr19:55880400-55881600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:55880400-55881600	Enhancers	Primary hematopoietic stem cells	blood
16	chr19:55880400-55881600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr19:55880400-55881600	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr19:55880400-55881600	Bivalent Enhancer	Spleen	Spleen
19	chr19:55880400-55881800	Flanking Active TSS	HMEC	breast
20	chr19:55880400-55882000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:55880400-55882000	Active TSS	Osteobl	bone
22	chr19:55880400-55882200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr19:55880400-55882200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr19:55880400-55882200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:55880600-55881400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:55880600-55881400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:55880600-55881400	Bivalent Enhancer	Esophagus	oesophagus
28	chr19:55880600-55881400	Active TSS	Right Atrium	heart
29	chr19:55880600-55881400	Bivalent/Poised TSS	HepG2	liver
30	chr19:55880600-55881600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:55880600-55881600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:55880600-55881600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:55880600-55881600	Active TSS	NH-A	brain
34	chr19:55880600-55881800	Bivalent Enhancer	Fetal Brain Male	brain
35	chr19:55880600-55882000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr19:55880600-55882000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr19:55880600-55882000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr19:55880600-55882000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:55880600-55882000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr19:55880600-55882000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:55880600-55882000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
42	chr19:55880600-55882000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:55880600-55882000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:55880600-55882200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
45	chr19:55880600-55882400	Active TSS	HSMMtube	muscle
46	chr19:55880800-55881400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:55880800-55881400	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr19:55880800-55881400	Bivalent/Poised TSS	Thymus	Thymus
49	chr19:55880800-55881600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:55880800-55881600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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