Variant report

Variant	rs570469279
Chromosome Location	chr5:14872299-14872300
allele	A/G
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	CTCF	chr5:14871880-14872566	K562	blood:	n/a	chr5:14872424-14872437
2	RCOR1	chr5:14871519-14872628	K562	blood:	n/a	n/a
3	POLR2A	chr5:14872004-14872320	MCF-7	breast:	n/a	n/a
4	CTCF	chr5:14871686-14872628	GM12878	blood:	n/a	chr5:14872424-14872437
5	POLR2A	chr5:14871637-14872304	K562	blood:	n/a	n/a
6	POLR2A	chr5:14871663-14872342	GM15510	blood:	n/a	n/a
7	HEY1	chr5:14872007-14872323	HepG2	liver:	n/a	n/a
8	E2F6	chr5:14871763-14872416	K562	blood:	n/a	n/a
9	BACH1	chr5:14872044-14872466	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr5:14871738-14873010	K562	blood:	n/a	n/a
11	CTCF	chr5:14871717-14872742	IMR90	lung:	n/a	chr5:14872424-14872437
12	POLR2A	chr5:14871613-14873074	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:14871952-14873093	Hela-S3	cervix:	n/a	n/a
14	YY1	chr5:14872277-14872651	GM12891	blood:	n/a	chr5:14872449-14872460 chr5:14872439-14872453 chr5:14872448-14872457
15	CTCF	chr5:14872270-14872503	H1-hESC	embryonic stem cell:	n/a	chr5:14872424-14872437
16	POLR2A	chr5:14871388-14873149	H1-neurons	neurons:	n/a	n/a
17	UBTF	chr5:14871602-14872709	K562	blood:	n/a	n/a
18	CTCF	chr5:14872280-14872430	HRE	kidney:	n/a	n/a
19	POLR2A	chr5:14871370-14873359	Hela-S3	cervix:	n/a	n/a
20	UBTF	chr5:14871577-14872614	K562	blood:	n/a	n/a
21	ZBTB7A	chr5:14871825-14872719	ECC-1	luminal epithelium:	n/a	n/a
22	E2F6	chr5:14871582-14872601	K562	blood:	n/a	chr5:14872452-14872461 chr5:14872448-14872457
23	POLR2A	chr5:14871501-14873053	Hela-S3	cervix:	n/a	n/a
24	ELK1	chr5:14872041-14873057	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr5:14871347-14872907	SK-N-SH	brain:	n/a	chr5:14872424-14872437
26	POLR2A	chr5:14871612-14873123	Gliobla	brain:	n/a	n/a
27	POLR2A	chr5:14871643-14872464	HUVEC	blood vessel:	n/a	n/a
28	ZNF143	chr5:14872019-14872650	Hela-S3	cervix:	n/a	chr5:14872263-14872281 chr5:14872483-14872493
29	POLR2A	chr5:14871607-14872319	Raji	blood:	n/a	n/a
30	POLR2A	chr5:14871655-14872371	HCT-116	colon:	n/a	n/a
31	MXI1	chr5:14870995-14873284	IMR90	lung:	n/a	n/a
32	CTCF	chr5:14871945-14872725	K562	blood:	n/a	chr5:14872424-14872437
33	MAZ	chr5:14871694-14872782	GM12878	blood:	n/a	n/a
34	RAD21	chr5:14871845-14872551	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:14871652-14873176	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr5:14871019-14873110	NB4	blood:	n/a	n/a
37	REST	chr5:14871432-14873159	H1-neurons	neurons:	n/a	chr5:14872218-14872231
38	POLR2A	chr5:14871544-14872703	A549	lung:	n/a	n/a
39	POLR2A	chr5:14871471-14873051	NB4	blood:	n/a	n/a
40	SMARCB1	chr5:14871303-14873122	Hela-S3	cervix:	n/a	n/a
41	ZBTB7A	chr5:14871775-14872439	K562	blood:	n/a	n/a
42	MAX	chr5:14871499-14872610	HepG2	liver:	n/a	n/a
43	HA-E2F1	chr5:14871446-14872642	Hela-S3	cervix:	n/a	chr5:14872452-14872461 chr5:14872448-14872457
44	POLR2A	chr5:14871985-14872358	GM12878	blood:	n/a	n/a
45	ZEB1	chr5:14871827-14872383	GM12878	blood:	n/a	n/a
46	ELF1	chr5:14871660-14872633	GM12878	blood:	n/a	chr5:14872297-14872309 chr5:14872434-14872446 chr5:14872449-14872461 chr5:14872317-14872329
47	POLR2A	chr5:14871613-14872309	HEK293	kidney:	n/a	n/a
48	POLR2A	chr5:14872291-14872706	A549	lung:	n/a	n/a
49	POLR2A	chr5:14872113-14873183	HepG2	liver:	n/a	n/a
50	MAX	chr5:14871312-14873135	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:15736896..15737522-chr5:14872268..14872832,2	Hela-S3	cervix:
2	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
3	chr5:14871557..14872468-chr8:128747896..128748761,2	NB4	blood:
4	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
5	chr5:14871623..14873903-chr5:14874758..14876587,2	K562	blood:
6	chr12:56511621..56512291-chr5:14872089..14872740,2	Hela-S3	cervix:
7	chr17:41465783..41466320-chr5:14871948..14872665,2	Hela-S3	cervix:

Variant related genes	Relation type
ANKH	TF binding region
ENSG00000272057	TF binding region
ENSG00000139641	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000249928	Chromatin interaction
ENSG00000250662	Chromatin interaction
ENSG00000166783	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000072864	Chromatin interaction
ENSG00000272213	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv969946	chr5:14867971-14880715	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3439895	chr5:14870477-14873325	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3409961	chr5:14870827-14873250	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3356858	chr5:14871502-14873150	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv20272	chr5:14871530-14872696	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv1813320	chr5:14871559-14872659	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1836322	chr5:14871559-14872659	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv1837540	chr5:14871559-14872659	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	esv1838436	chr5:14871559-14872659	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv597257	chr5:14871559-14872659	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv597258	chr5:14871848-14875868	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv511287	chr5:14871900-14872605	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv597259	chr5:14871900-14875868	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv597260	chr5:14871952-14872659	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	esv1833901	chr5:14871952-14884822	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14869400-14872800	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:14869400-14873000	Active TSS	Aorta	Aorta
3	chr5:14869600-14873000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr5:14869600-14873200	Active TSS	Brain Cingulate Gyrus	brain
5	chr5:14869600-14873200	Active TSS	Fetal Intestine Small	intestine
6	chr5:14869800-14873000	Active TSS	Left Ventricle	heart
7	chr5:14869800-14873200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:14869800-14873200	Active TSS	Right Ventricle	heart
9	chr5:14870000-14872800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:14870000-14872800	Active TSS	Pancreas	Pancrea
11	chr5:14870000-14873000	Active TSS	Colonic Mucosa	Colon
12	chr5:14870000-14873000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr5:14870000-14873000	Active TSS	Esophagus	oesophagus
14	chr5:14870000-14873000	Active TSS	Fetal Intestine Large	intestine
15	chr5:14870200-14872600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr5:14870200-14872800	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr5:14870200-14872800	Active TSS	Brain Hippocampus Middle	brain
18	chr5:14870200-14872800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr5:14870200-14872800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr5:14870200-14872800	Active TSS	NHLF	lung
21	chr5:14870200-14873000	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr5:14870200-14873000	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr5:14870200-14873000	Active TSS	Gastric	stomach
24	chr5:14870200-14873000	Active TSS	Psoas Muscle	Psoas
25	chr5:14870200-14873000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr5:14870200-14873000	Active TSS	HSMMtube	muscle
27	chr5:14870200-14873000	Active TSS	Osteobl	bone
28	chr5:14870200-14873200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:14870200-14873200	Active TSS	Brain Angular Gyrus	brain
30	chr5:14870200-14873200	Active TSS	Brain Anterior Caudate	brain
31	chr5:14870200-14873200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:14870200-14873400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr5:14870400-14872800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr5:14870400-14873000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:14870400-14873200	Active TSS	Colon Smooth Muscle	Colon
36	chr5:14870600-14872400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:14870600-14872800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr5:14870600-14872800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:14870600-14872800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr5:14870600-14872800	Active TSS	A549	lung
41	chr5:14870600-14873000	Active TSS	NHDF-Ad	bronchial
42	chr5:14870600-14873200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:14870600-14873200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:14870800-14872400	Bivalent/Poised TSS	Fetal Thymus	thymus
45	chr5:14870800-14872600	Active TSS	Primary T cells fromperipheralblood	blood
46	chr5:14870800-14872600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:14870800-14872600	Active TSS	Stomach Smooth Muscle	stomach
48	chr5:14870800-14872600	Active TSS	HMEC	breast
49	chr5:14870800-14872800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:14870800-14872800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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