Variant report

Variant	rs545202863
Chromosome Location	chr7:56032084-56032085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:375)
CpG islands
(count:122)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:56031955-56032899	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:56032000-56033023	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr7:56032011-56033096	K562	blood:	n/a	n/a
4	MAX	chr7:56031912-56032958	K562	blood:	n/a	chr7:56032448-56032458
5	MAZ	chr7:56031746-56033253	GM12878	blood:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
6	HCFC1	chr7:56031785-56033057	K562	blood:	n/a	n/a
7	POLR2A	chr7:56031931-56032969	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:56032026-56032845	HUVEC	blood vessel:	n/a	n/a
9	YY1	chr7:56032011-56032866	ECC-1	luminal epithelium:	n/a	chr7:56032298-56032310
10	CTCF	chr7:56032080-56032230	HepG2	liver:	n/a	chr7:56032120-56032133
11	CBX3	chr7:56031914-56032261	K562	blood:	n/a	n/a
12	CTCF	chr7:56032080-56032230	K562	blood:	n/a	chr7:56032120-56032133
13	CTCF	chr7:56032046-56032320	GM12878	blood:	n/a	chr7:56032120-56032133
14	MAX	chr7:56031940-56032946	Hela-S3	cervix:	n/a	chr7:56032448-56032458
15	POLR2A	chr7:56031658-56033114	PBDE	blood:	n/a	n/a
16	CTCF	chr7:56032080-56032230	HCFaa	heart:	n/a	chr7:56032120-56032133
17	TAF1	chr7:56031987-56032442	PFSK-1	brain:	n/a	n/a
18	CREB1	chr7:56031905-56033024	HepG2	liver:	n/a	n/a
19	YY1	chr7:56031966-56032622	GM12878	blood:	n/a	chr7:56032298-56032310
20	GTF2F1	chr7:56031968-56033055	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZBTB7A	chr7:56031835-56032523	ECC-1	luminal epithelium:	n/a	n/a
22	YY1	chr7:56032019-56032862	GM12892	blood:	n/a	chr7:56032298-56032310
23	POLR2A	chr7:56031988-56033066	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr7:56032069-56032330	GM13976	blood:	n/a	chr7:56032120-56032133
25	CTCF	chr7:56032000-56032301	A549	lung:	n/a	chr7:56032120-56032133
26	CTCF	chr7:56032060-56032210	GM12873	blood:	n/a	chr7:56032120-56032133
27	GTF2F1	chr7:56032077-56032413	K562	blood:	n/a	n/a
28	CTCF	chr7:56032024-56032442	GM19240	blood:	n/a	chr7:56032120-56032133 chr7:56032414-56032427
29	EP300	chr7:56031972-56032754	HepG2	liver:	n/a	chr7:56032431-56032440
30	POLR2A	chr7:56031927-56032900	HCT-116	colon:	n/a	n/a
31	POLR2A	chr7:56032066-56032508	GM12891	blood:	n/a	n/a
32	POLR2A	chr7:56031978-56032878	GM12878	blood:	n/a	n/a
33	ZBTB7A	chr7:56032019-56032806	HepG2	liver:	n/a	n/a
34	E2F6	chr7:56031940-56032489	K562	blood:	n/a	chr7:56032117-56032124 chr7:56032462-56032472 chr7:56032117-56032124 chr7:56032117-56032124
35	CTCF	chr7:56032080-56032230	GM12873	blood:	n/a	chr7:56032120-56032133
36	RAD21	chr7:56031946-56032402	A549	lung:	n/a	n/a
37	MYC	chr7:56032000-56033286	K562	blood:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
38	CHD2	chr7:56032043-56032357	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr7:56032067-56032310	Hela-S3	cervix:	n/a	chr7:56032120-56032133
40	MAX	chr7:56031630-56032856	GM12878	blood:	n/a	chr7:56032448-56032458
41	ZBTB7A	chr7:56032062-56032348	HepG2	liver:	n/a	n/a
42	MAX	chr7:56031928-56033200	NB4	blood:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
43	ZKSCAN1	chr7:56031767-56032463	Hela-S3	cervix:	n/a	n/a
44	TCF7L2	chr7:56032001-56032216	PANC-1	pancreas:	n/a	n/a
45	CTCF	chr7:56032080-56032230	GM12874	blood:	n/a	chr7:56032120-56032133
46	POLR2A	chr7:56032015-56032907	A549	lung:	n/a	n/a
47	JUND	chr7:56031932-56032942	H1-hESC	embryonic stem cell:	n/a	n/a
48	RELA	chr7:56031962-56032984	GM18951	blood:	n/a	n/a
49	PAX5	chr7:56031998-56032282	GM12878	blood:	n/a	n/a
50	CTCF	chr7:56032080-56032230	GM12875	blood:	n/a	chr7:56032120-56032133

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56032049-56032099	HEEpiC	esophagus:	n/a
2	chr7:56032047-56032097	HRPEpiC	eye:	n/a
3	chr7:56032049-56032099	HPAEpiC	pulmonary alveolar:	n/a
4	chr7:56032049-56032099	SK-N-MC	brain:	n/a
5	chr7:56032047-56032097	SAEC	small airway:	n/a
6	chr7:56032049-56032099	GM06990	blood:	n/a
7	chr7:56032047-56032097	HAEpiC	amniotic membrane:	n/a
8	chr7:56032049-56032099	PFSK-1	brain:	n/a
9	chr7:56032049-56032099	T-47D	breast:	n/a
10	chr7:56032047-56032097	HCF	heart:	n/a
11	chr7:56032047-56032097	ProgFib	skin:	n/a
12	chr7:56032047-56032097	A549	lung:	n/a
13	chr7:56032047-56032097	HUVEC	blood vessel:	n/a
14	chr7:56032049-56032099	SKMC	muscle:	n/a
15	chr7:56032047-56032097	HMEC	breast:	n/a
16	chr7:56032047-56032097	SK-N-MC	brain:	n/a
17	chr7:56032047-56032097	GM12878	blood:	n/a
18	chr7:56032047-56032097	NB4	blood:	n/a
19	chr7:56032047-56032097	AG10803	skin:	n/a
20	chr7:56032049-56032099	H1-hESC	embryonic stem cell:	embryo
21	chr7:56032047-56032097	AG04449	skin:	fetal
22	chr7:56032047-56032097	Hela-S3	cervix:	n/a
23	chr7:56032049-56032099	NB4	blood:	n/a
24	chr7:56032049-56032099	HIPEpiC	eye:	n/a
25	chr7:56032047-56032097	Hepatocyte	liver:	n/a
26	chr7:56032049-56032099	NH-A	brain:	n/a
27	chr7:56032049-56032099	HRCEpiC	kidney:	n/a
28	chr7:56032049-56032099	CMK	blood:	n/a
29	chr7:56032049-56032099	GM12878	blood:	n/a
30	chr7:56032047-56032097	SK-N-SH	brain:	n/a
31	chr7:56032049-56032099	SK-N-SH	brain:	n/a
32	chr7:56032047-56032097	HCT-116	colon:	n/a
33	chr7:56032049-56032099	AG09319	gingival:	n/a
34	chr7:56032047-56032097	Caco-2	colon:	n/a
35	chr7:56032049-56032099	HCPEpiC	choroid plexus:	n/a
36	chr7:56032049-56032099	Caco-2	colon:	n/a
37	chr7:56032047-56032097	HPAEpiC	pulmonary alveolar:	n/a
38	chr7:56032047-56032097	IMR90	lung:	fetal
39	chr7:56032047-56032097	HCM	heart:	n/a
40	chr7:56032049-56032099	NHDF-neo	bronchial:	n/a
41	chr7:56032049-56032099	GM12891	blood:	n/a
42	chr7:56032049-56032099	AG10803	skin:	n/a
43	chr7:56032049-56032099	HNPCEpiC	eye:	n/a
44	chr7:56032047-56032097	SKMC	muscle:	n/a
45	chr7:56032047-56032097	GM12891	blood:	n/a
46	chr7:56032049-56032099	Hepatocyte	liver:	n/a
47	chr7:56032049-56032099	PrEC	prostate:	n/a
48	chr7:56032047-56032097	GM06990	blood:	n/a
49	chr7:56032049-56032099	ovcar-3	ovarian:	n/a
50	chr7:56032047-56032097	U87	brain:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:56031242..56032808-chr7:56131882..56133699,2	K562	blood:
2	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
3	chr7:56031349..56032951-chr7:56117963..56119524,2	K562	blood:
4	chr12:49658780..49659339-chr7:56031978..56032804,2	Hela-S3	cervix:
5	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
6	chr15:101834891..101835522-chr7:56032002..56032746,2	Hela-S3	cervix:
7	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
8	chr7:56031349..56034408-chr7:56116793..56119463,3	K562	blood:
9	chr7:56031002..56032516-chr7:56130202..56131906,2	K562	blood:
10	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:
11	chr7:56031249..56033824-chr7:56141998..56144238,2	MCF-7	breast:
12	chr7:56031887..56033611-chr7:56046548..56048449,2	K562	blood:
13	chr7:56031975..56033890-chr7:56117908..56119685,2	MCF-7	breast:

No data

Variant related genes	Relation type
GBAS	TF binding region
GBAS	CpG island
ENSG00000146733	Chromatin interaction
ENSG00000146729	Chromatin interaction
ENSG00000239789	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000131876	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000146731	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv3415140	chr7:56031258-56033556	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56020400-56032600	Weak transcription	Fetal Lung	lung
2	chr7:56025400-56032200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:56030800-56032200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:56031200-56032200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr7:56031200-56032200	Flanking Active TSS	Dnd41	blood
6	chr7:56031400-56032200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr7:56031400-56033800	Active TSS	Fetal Kidney	kidney
8	chr7:56031600-56032200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:56031600-56033000	Active TSS	HSMM	muscle
10	chr7:56031600-56033200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:56031600-56033600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:56031600-56033800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:56031800-56032200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:56031800-56032200	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:56031800-56032200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr7:56031800-56032200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:56031800-56032200	Flanking Active TSS	K562	blood
18	chr7:56031800-56032600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:56031800-56032600	Active TSS	Brain Germinal Matrix	brain
20	chr7:56031800-56032800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:56031800-56033000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:56031800-56033000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:56031800-56033000	Active TSS	Esophagus	oesophagus
24	chr7:56031800-56033000	Active TSS	Gastric	stomach
25	chr7:56031800-56033000	Active TSS	Lung	lung
26	chr7:56031800-56033000	Active TSS	Pancreas	Pancrea
27	chr7:56031800-56033000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr7:56031800-56033000	Active TSS	Stomach Mucosa	stomach
29	chr7:56031800-56033000	Active TSS	NHDF-Ad	bronchial
30	chr7:56031800-56033000	Active TSS	NHEK	skin
31	chr7:56031800-56033200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:56031800-56033200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:56031800-56033200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:56031800-56033200	Active TSS	Aorta	Aorta
35	chr7:56031800-56033200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:56031800-56033200	Active TSS	Brain Substantia Nigra	brain
37	chr7:56031800-56033200	Active TSS	Ovary	ovary
38	chr7:56031800-56033400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:56031800-56033400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:56031800-56033400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr7:56031800-56033400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:56031800-56033400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr7:56031800-56033400	Active TSS	Fetal Intestine Large	intestine
44	chr7:56031800-56033400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr7:56031800-56033600	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr7:56031800-56033600	Active TSS	Brain Anterior Caudate	brain
47	chr7:56031800-56033600	Active TSS	Colon Smooth Muscle	Colon
48	chr7:56031800-56033600	Active TSS	A549	lung
49	chr7:56031800-56033600	Active TSS	Hela-S3	cervix
50	chr7:56031800-56033800	Active TSS	HUES48 Cell Line	embryonic stem cell

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