Variant report

Variant	rs138538616
Chromosome Location	chr7:56032580-56032581
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	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	ESR1	chr7:56032477-56032844	T-47D	breast:	n/a	n/a
6	MAZ	chr7:56031746-56033253	GM12878	blood:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
7	HCFC1	chr7:56031785-56033057	K562	blood:	n/a	n/a
8	POLR2A	chr7:56031931-56032969	GM12892	blood:	n/a	n/a
9	POLR2A	chr7:56032026-56032845	HUVEC	blood vessel:	n/a	n/a
10	YY1	chr7:56032011-56032866	ECC-1	luminal epithelium:	n/a	chr7:56032298-56032310
11	MAX	chr7:56031940-56032946	Hela-S3	cervix:	n/a	chr7:56032448-56032458
12	POLR2A	chr7:56031658-56033114	PBDE	blood:	n/a	n/a
13	CREB1	chr7:56031905-56033024	HepG2	liver:	n/a	n/a
14	YY1	chr7:56031966-56032622	GM12878	blood:	n/a	chr7:56032298-56032310
15	GTF2F1	chr7:56031968-56033055	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr7:56032019-56032862	GM12892	blood:	n/a	chr7:56032298-56032310
17	POLR2A	chr7:56032571-56032896	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:56031988-56033066	HUVEC	blood vessel:	n/a	n/a
19	EP300	chr7:56031972-56032754	HepG2	liver:	n/a	chr7:56032431-56032440
20	POLR2A	chr7:56031927-56032900	HCT-116	colon:	n/a	n/a
21	POLR2A	chr7:56031978-56032878	GM12878	blood:	n/a	n/a
22	ZBTB7A	chr7:56032019-56032806	HepG2	liver:	n/a	n/a
23	YY1	chr7:56032112-56032707	K562	blood:	n/a	chr7:56032298-56032310
24	MYC	chr7:56032000-56033286	K562	blood:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
25	POLR2A	chr7:56032204-56032921	HepG2	liver:	n/a	n/a
26	MAX	chr7:56031630-56032856	GM12878	blood:	n/a	chr7:56032448-56032458
27	MAX	chr7:56031928-56033200	NB4	blood:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
28	POLR2A	chr7:56032015-56032907	A549	lung:	n/a	n/a
29	JUND	chr7:56031932-56032942	H1-hESC	embryonic stem cell:	n/a	n/a
30	RELA	chr7:56031962-56032984	GM18951	blood:	n/a	n/a
31	TCF12	chr7:56032007-56032957	ECC-1	luminal epithelium:	n/a	n/a
32	FOSL2	chr7:56032543-56032892	HepG2	liver:	n/a	n/a
33	RXRA	chr7:56032523-56032777	HepG2	liver:	n/a	chr7:56032584-56032600
34	POLR2A	chr7:56031876-56032955	K562	blood:	n/a	n/a
35	POLR2A	chr7:56031893-56032983	GM12892	blood:	n/a	n/a
36	CHD2	chr7:56031939-56033186	K562	blood:	n/a	n/a
37	RELA	chr7:56031955-56032897	GM15510	blood:	n/a	n/a
38	POLR2A	chr7:56032008-56032920	GM18526	blood:	n/a	n/a
39	HA-E2F1	chr7:56031806-56033064	MCF-7	breast:	n/a	chr7:56032135-56032146 chr7:56032117-56032124 chr7:56032462-56032472 chr7:56032117-56032124 chr7:56032117-56032124
40	TAF1	chr7:56031888-56032999	H1-hESC	embryonic stem cell:	n/a	n/a
41	HEY1	chr7:56032062-56032926	K562	blood:	n/a	chr7:56032668-56032683 chr7:56032670-56032685 chr7:56032120-56032135
42	MAZ	chr7:56032002-56032918	HepG2	liver:	n/a	chr7:56032448-56032458
43	PML	chr7:56032054-56032969	GM12878	blood:	n/a	n/a
44	MAZ	chr7:56031694-56033237	K562	blood:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
45	HEY1	chr7:56032219-56032879	HepG2	liver:	n/a	chr7:56032668-56032683 chr7:56032670-56032685
46	YY1	chr7:56031829-56033234	SK-N-SH	brain:	n/a	chr7:56032298-56032310
47	POLR2A	chr7:56031849-56033124	K562	blood:	n/a	n/a
48	POLR2A	chr7:56031971-56033258	HUVEC	blood vessel:	n/a	n/a
49	TAF1	chr7:56032004-56032859	HepG2	liver:	n/a	n/a
50	RCOR1	chr7:56031948-56032938	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56031242..56032808-chr7:56131882..56133699,2	K562	blood:
2	chr1:198125421..198126357-chr7:56032266..56032946,2	Hela-S3	cervix:
3	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
4	chr7:56031349..56032951-chr7:56117963..56119524,2	K562	blood:
5	chr12:49658780..49659339-chr7:56031978..56032804,2	Hela-S3	cervix:
6	chr12:7052919..7053771-chr7:56032188..56032739,2	Hela-S3	cervix:
7	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
8	chr15:101834891..101835522-chr7:56032002..56032746,2	Hela-S3	cervix:
9	chr17:8076487..8077320-chr7:56032246..56032797,2	Hela-S3	cervix:
10	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
11	chr7:55638686..55640788-chr7:56032408..56034180,2	K562	blood:
12	chr17:74733067..74733875-chr7:56032322..56032938,2	Hela-S3	cervix:
13	chr16:2204698..2205552-chr7:56032394..56032937,2	Hela-S3	cervix:
14	chr7:56031349..56034408-chr7:56116793..56119463,3	K562	blood:
15	chr5:43514694..43515572-chr7:56032328..56033081,2	Hela-S3	cervix:
16	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:
17	chr7:56031249..56033824-chr7:56141998..56144238,2	MCF-7	breast:
18	chr7:56031887..56033611-chr7:56046548..56048449,2	K562	blood:
19	chr7:56031975..56033890-chr7:56117908..56119685,2	MCF-7	breast:

Variant related genes	Relation type
GBAS	TF binding region
ENSG00000200463	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000154978	Chromatin interaction
ENSG00000146733	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000151414	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000146729	Chromatin interaction
ENSG00000161547	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000131876	Chromatin interaction
ENSG00000092931	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000272173	Chromatin interaction
ENSG00000239789	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:125 , 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	chr7:56031400-56033800	Active TSS	Fetal Kidney	kidney
3	chr7:56031600-56033000	Active TSS	HSMM	muscle
4	chr7:56031600-56033200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:56031600-56033600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:56031600-56033800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:56031800-56032600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:56031800-56032600	Active TSS	Brain Germinal Matrix	brain
9	chr7:56031800-56032800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:56031800-56033000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:56031800-56033000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:56031800-56033000	Active TSS	Esophagus	oesophagus
13	chr7:56031800-56033000	Active TSS	Gastric	stomach
14	chr7:56031800-56033000	Active TSS	Lung	lung
15	chr7:56031800-56033000	Active TSS	Pancreas	Pancrea
16	chr7:56031800-56033000	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr7:56031800-56033000	Active TSS	Stomach Mucosa	stomach
18	chr7:56031800-56033000	Active TSS	NHDF-Ad	bronchial
19	chr7:56031800-56033000	Active TSS	NHEK	skin
20	chr7:56031800-56033200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:56031800-56033200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:56031800-56033200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:56031800-56033200	Active TSS	Aorta	Aorta
24	chr7:56031800-56033200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:56031800-56033200	Active TSS	Brain Substantia Nigra	brain
26	chr7:56031800-56033200	Active TSS	Ovary	ovary
27	chr7:56031800-56033400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:56031800-56033400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:56031800-56033400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr7:56031800-56033400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:56031800-56033400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr7:56031800-56033400	Active TSS	Fetal Intestine Large	intestine
33	chr7:56031800-56033400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr7:56031800-56033600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr7:56031800-56033600	Active TSS	Brain Anterior Caudate	brain
36	chr7:56031800-56033600	Active TSS	Colon Smooth Muscle	Colon
37	chr7:56031800-56033600	Active TSS	A549	lung
38	chr7:56031800-56033600	Active TSS	Hela-S3	cervix
39	chr7:56031800-56033800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr7:56031800-56033800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr7:56031800-56033800	Active TSS	HSMMtube	muscle
42	chr7:56031800-56033800	Active TSS	NHLF	lung
43	chr7:56031800-56034400	Active TSS	Left Ventricle	heart
44	chr7:56031800-56034600	Active TSS	Right Ventricle	heart
45	chr7:56032000-56032600	Active TSS	Primary B cells from cord blood	blood
46	chr7:56032000-56032800	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr7:56032000-56032800	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr7:56032000-56032800	Active TSS	Primary B cells from peripheral blood	blood
49	chr7:56032000-56032800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr7:56032000-56032800	Active TSS	Primary T helper cells fromperipheralblood	blood

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