Variant report

Variant	rs377573972
Chromosome Location	chr7:6144085-6144086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:514)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr7:6144070-6145046	Hela-S3	cervix:	n/a	chr7:6144317-6144326
2	SIX5	chr7:6144069-6144466	K562	blood:	n/a	n/a
3	POLR2A	chr7:6143752-6144835	MCF-7	breast:	n/a	n/a
4	UBTF	chr7:6143931-6144724	K562	blood:	n/a	n/a
5	SP1	chr7:6143925-6144570	HepG2	liver:	n/a	chr7:6144316-6144337 chr7:6144404-6144414
6	TCF12	chr7:6143754-6144646	A549	lung:	n/a	chr7:6144164-6144174
7	CREB1	chr7:6143915-6144751	K562	blood:	n/a	n/a
8	ZNF143	chr7:6143982-6144605	Hela-S3	cervix:	n/a	n/a
9	MYC	chr7:6143908-6144708	K562	blood:	n/a	n/a
10	STAT3	chr7:6143989-6144159	MCF10A-Er-Src	breast:	n/a	n/a
11	TAF1	chr7:6143945-6144618	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr7:6143833-6144845	PANC-1	pancreas:	n/a	n/a
13	SIX5	chr7:6144035-6144483	A549	lung:	n/a	n/a
14	GATA3	chr7:6144071-6144593	T-47D	breast:	n/a	n/a
15	MYBL2	chr7:6143846-6144646	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:6143842-6144746	GM12878	blood:	n/a	n/a
17	CTCF	chr7:6144020-6144170	AoAF	blood vessel:	n/a	n/a
18	REST	chr7:6143858-6144483	A549	lung:	n/a	n/a
19	FOSL2	chr7:6143886-6144321	A549	lung:	n/a	n/a
20	CREB1	chr7:6143929-6144742	K562	blood:	n/a	n/a
21	CTCF	chr7:6144060-6144210	Hela-S3	cervix:	n/a	n/a
22	ELF1	chr7:6143906-6144721	K562	blood:	n/a	n/a
23	POLR2A	chr7:6143996-6144800	GM15510	blood:	n/a	n/a
24	SRF	chr7:6143924-6144650	ECC-1	luminal epithelium:	n/a	n/a
25	CHD2	chr7:6144033-6144561	HepG2	liver:	n/a	n/a
26	JUN	chr7:6144047-6144388	H1-hESC	embryonic stem cell:	n/a	chr7:6144319-6144328
27	POLR2A	chr7:6143891-6144494	GM12878	blood:	n/a	n/a
28	CTCF	chr7:6143980-6144130	HMF	breast:	n/a	n/a
29	POU2F2	chr7:6143952-6144486	GM12891	blood:	n/a	n/a
30	ELF1	chr7:6143937-6144744	GM12878	blood:	n/a	n/a
31	CTCF	chr7:6144020-6144170	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr7:6143960-6144110	HA-sp	spinal cord:	n/a	n/a
33	EP300	chr7:6144081-6144467	GM12878	blood:	n/a	n/a
34	MYC	chr7:6144057-6144607	MCF-7	breast:	n/a	n/a
35	EP300	chr7:6143875-6144519	A549	lung:	n/a	n/a
36	RAD21	chr7:6144051-6144671	Hela-S3	cervix:	n/a	n/a
37	REST	chr7:6144045-6144345	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr7:6143843-6144791	GM12878	blood:	n/a	n/a
39	MAX	chr7:6143927-6144714	A549	lung:	n/a	n/a
40	FOXM1	chr7:6143808-6144606	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:6143888-6144451	HepG2	liver:	n/a	n/a
42	MAX	chr7:6143992-6144751	K562	blood:	n/a	n/a
43	BRCA1	chr7:6144073-6144492	HepG2	liver:	n/a	n/a
44	CTCF	chr7:6143980-6144130	GM12874	blood:	n/a	n/a
45	ELF1	chr7:6143939-6144667	HCT-116	colon:	n/a	n/a
46	MAZ	chr7:6144030-6144763	Hela-S3	cervix:	n/a	n/a
47	SIN3A	chr7:6144018-6145631	H1-hESC	embryonic stem cell:	n/a	chr7:6145066-6145079
48	GTF2B	chr7:6144081-6144449	K562	blood:	n/a	n/a
49	E2F4	chr7:6144023-6144538	MCF10A-Er-Src	breast:	n/a	chr7:6144317-6144326
50	MBD4	chr7:6143889-6144524	HepG2	liver:	n/a	n/a

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6046967..6050535-chr7:6141219..6149580,10	K562	blood:
2	chr7:6119410..6124898-chr7:6141396..6145150,7	MCF-7	breast:
3	chr7:6064661..6068184-chr7:6142795..6145849,5	MCF-7	breast:
4	chr7:6096872..6099965-chr7:6142845..6147736,5	MCF-7	breast:
5	chr7:6118710..6122632-chr7:6142742..6146844,10	K562	blood:
6	chr7:6055602..6058271-chr7:6142750..6144893,2	MCF-7	breast:
7	chr7:6048826..6049627-chr7:6143766..6144544,2	HCT-116	colon:
8	chr7:6047404..6049912-chr7:6142714..6146343,4	MCF-7	breast:
9	chr7:6047026..6051403-chr7:6141746..6146462,7	K562	blood:
10	chr1:38061256..38061780-chr7:6143823..6144821,2	NB4	blood:
11	chr7:6100114..6101811-chr7:6141887..6144361,2	K562	blood:
12	chr10:17243122..17243935-chr7:6143879..6144532,2	HCT-116	colon:
13	chr7:6141805..6147526-chr7:6152442..6159269,12	MCF-7	breast:
14	chr17:56708604..56709142-chr7:6143631..6144302,2	Hela-S3	cervix:
15	chr7:6119521..6122293-chr7:6142698..6146719,8	K562	blood:
16	chr5:176830787..176831503-chr7:6143819..6144569,2	Hela-S3	cervix:
17	chr2:135675640..135676288-chr7:6143525..6144422,2	Hela-S3	cervix:
18	chr7:6143900..6146202-chr7:6155214..6157141,2	MCF-7	breast:
19	chr7:6096763..6100631-chr7:6141376..6146373,15	MCF-7	breast:
20	chr3:73160101..73161088-chr7:6143657..6144592,2	Hela-S3	cervix:
21	chr7:6065831..6068709-chr7:6141820..6144838,4	MCF-7	breast:
22	chr7:6143403..6145262-chr7:6310829..6313708,2	MCF-7	breast:
23	chr7:6143877..6144677-chr9:134000320..134001058,2	Hela-S3	cervix:
24	chr7:6143696..6144293-chr7:73153152..73153874,2	Hela-S3	cervix:
25	chr13:103248649..103249379-chr7:6143733..6144282,2	NB4	blood:
26	chr7:6094497..6101614-chr7:6140891..6145784,14	K562	blood:
27	chr7:6142905..6144683-chr7:6522279..6524664,2	MCF-7	breast:
28	chr11:537982..538482-chr7:6143933..6144434,2	HCT-116	colon:
29	chr19:17516059..17516719-chr7:6143769..6144365,2	NB4	blood:
30	chr7:6118878..6122850-chr7:6140823..6146720,14	MCF-7	breast:
31	chr7:6054346..6056159-chr7:6142852..6144380,2	K562	blood:
32	chr7:6094946..6099638-chr7:6140891..6146239,12	K562	blood:
33	chr1:117601936..117602864-chr7:6143842..6144663,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2AK1-1	chr7:6144054-6144254	NONHSAT118982

No data

Variant related genes	Relation type
USP42	TF binding region
ENSG00000106077	Chromatin interaction
ENSG00000231704	Chromatin interaction
ENSG00000131187	Chromatin interaction
ENSG00000269781	Chromatin interaction
ENSG00000008256	Chromatin interaction
ENSG00000134900	Chromatin interaction
ENSG00000141971	Chromatin interaction
ENSG00000134697	Chromatin interaction
ENSG00000122512	Chromatin interaction
ENSG00000207217	Chromatin interaction
ENSG00000106305	Chromatin interaction
ENSG00000198055	Chromatin interaction
ENSG00000224043	Chromatin interaction
ENSG00000264605	Chromatin interaction
ENSG00000236137	Chromatin interaction
ENSG00000086232	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000269640	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000252929	Chromatin interaction
ENSG00000107614	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000130303	Chromatin interaction
ENSG00000126883	Chromatin interaction
ENSG00000082258	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription 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 target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
12	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
14	nsv5628	chr7:6105462-6147148	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	esv13824	chr7:6123263-6144717	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	esv3419592	chr7:6142526-6147024	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	esv3421072	chr7:6143276-6146174	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	esv3332999	chr7:6143776-6146174	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6142800-6144400	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr7:6143200-6144400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:6143200-6144400	Active TSS	A549	lung
4	chr7:6143200-6145200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:6143200-6145600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:6143200-6146200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:6143200-6146200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:6143200-6146200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:6143200-6146400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:6143400-6144200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:6143400-6144200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr7:6143400-6144200	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr7:6143400-6144200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr7:6143400-6144200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr7:6143400-6144400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:6143400-6144400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:6143400-6144400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:6143400-6144400	Active TSS	Brain Hippocampus Middle	brain
19	chr7:6143400-6144400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:6143400-6144400	Active TSS	Brain Substantia Nigra	brain
21	chr7:6143400-6144400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:6143400-6144400	Active TSS	Fetal Kidney	kidney
23	chr7:6143400-6144400	Active TSS	NHDF-Ad	bronchial
24	chr7:6143400-6145400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:6143400-6145400	Active TSS	Brain Angular Gyrus	brain
26	chr7:6143400-6145800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr7:6143400-6146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:6143400-6146000	Active TSS	Muscle Satellite Cultured Cells	--
29	chr7:6143400-6146000	Active TSS	Brain Anterior Caudate	brain
30	chr7:6143400-6146000	Active TSS	Rectal Smooth Muscle	rectum
31	chr7:6143400-6146200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:6143400-6146400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:6143400-6146400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:6143400-6146400	Active TSS	HSMM	muscle
35	chr7:6143400-6146800	Active TSS	HSMMtube	muscle
36	chr7:6143600-6144200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr7:6143600-6144200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:6143600-6144400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:6143600-6144400	Active TSS	Brain Cingulate Gyrus	brain
40	chr7:6143600-6144400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr7:6143600-6144400	Active TSS	GM12878-XiMat	blood
42	chr7:6143600-6144400	Active TSS	K562	blood
43	chr7:6143600-6144400	Active TSS	NHEK	skin
44	chr7:6143600-6145200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:6143600-6145600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:6143600-6145600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:6143600-6145600	Active TSS	Gastric	stomach
48	chr7:6143600-6145800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr7:6143600-6146000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:6143600-6146000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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