Variant report

Variant	rs536766031
Chromosome Location	chr7:6143881-6143882
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6143752-6144835	MCF-7	breast:	n/a	n/a
2	TCF12	chr7:6143754-6144646	A549	lung:	n/a	chr7:6144164-6144174
3	POLR2A	chr7:6143833-6144845	PANC-1	pancreas:	n/a	n/a
4	MYBL2	chr7:6143846-6144646	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:6143842-6144746	GM12878	blood:	n/a	n/a
6	REST	chr7:6143858-6144483	A549	lung:	n/a	n/a
7	EP300	chr7:6143875-6144519	A549	lung:	n/a	n/a
8	POLR2A	chr7:6143843-6144791	GM12878	blood:	n/a	n/a
9	FOXM1	chr7:6143808-6144606	GM12878	blood:	n/a	n/a
10	TAF1	chr7:6143828-6144431	A549	lung:	n/a	n/a
11	SIN3AK20	chr7:6143861-6145718	PANC-1	pancreas:	n/a	n/a
12	MYBL2	chr7:6143850-6144654	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:6143864-6144942	ProgFib	skin:	n/a	n/a
14	TEAD4	chr7:6143876-6144545	K562	blood:	n/a	n/a
15	YY1	chr7:6143859-6144854	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:6143805-6144804	Hela-S3	cervix:	n/a	n/a
17	SIN3AK20	chr7:6143727-6144794	MCF-7	breast:	n/a	n/a
18	TAF1	chr7:6143860-6144749	H1-hESC	embryonic stem cell:	n/a	n/a
19	STAT5A	chr7:6143861-6144468	GM12878	blood:	n/a	n/a
20	CBX3	chr7:6143832-6144479	K562	blood:	n/a	n/a
21	MTA3	chr7:6143851-6144507	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:6143832-6144843	GM12892	blood:	n/a	n/a
23	MXI1	chr7:6143879-6147084	SK-N-SH	brain:	n/a	chr7:6144955-6144970
24	MXI1	chr7:6143740-6146419	IMR90	lung:	n/a	chr7:6144955-6144970
25	POLR2A	chr7:6143823-6144738	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr7:6143824-6144777	MCF-7	breast:	n/a	n/a
27	POLR2A	chr7:6143870-6144646	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr7:6143850-6144808	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr7:6143528-6144780	GM19193	blood:	n/a	n/a
30	POLR2A	chr7:6142977-6144904	K562	blood:	n/a	n/a
31	NFYA	chr7:6143535-6144578	Hela-S3	cervix:	n/a	chr7:6144315-6144333 chr7:6144317-6144327 chr7:6144315-6144330 chr7:6144314-6144326 chr7:6144315-6144330 chr7:6144315-6144329
32	POLR2A	chr7:6143802-6144698	PFSK-1	brain:	n/a	n/a
33	GATA3	chr7:6143871-6144593	A549	lung:	n/a	n/a
34	HA-E2F1	chr7:6143475-6144507	MCF-7	breast:	n/a	chr7:6144317-6144326
35	SP1	chr7:6143855-6144602	A549	lung:	n/a	chr7:6144316-6144337 chr7:6144404-6144414
36	HCFC1	chr7:6143424-6144749	Hela-S3	cervix:	n/a	n/a
37	MYC	chr7:6143879-6144608	A549	lung:	n/a	n/a
38	CTCF	chr7:6143873-6144937	SK-N-SH	brain:	n/a	chr7:6144331-6144344
39	POLR2A	chr7:6143859-6144646	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr7:6143548-6144926	MCF-7	breast:	n/a	n/a
41	POLR2A	chr7:6143832-6144535	GM12892	blood:	n/a	n/a
42	POLR2A	chr7:6143579-6144716	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr7:6143652-6144846	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr7:6143870-6144468	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr7:6141885-6144613	SK-N-MC	brain:	n/a	n/a
46	NR2F2	chr7:6143846-6144529	K562	blood:	n/a	n/a
47	TBP	chr7:6143858-6144632	K562	blood:	n/a	n/a
48	TAF1	chr7:6143879-6144691	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:6143864-6144487	HUVEC	blood vessel:	n/a	n/a
50	GABPA	chr7:6143868-6144639	MCF-7	breast:	n/a	chr7:6144236-6144245

No data

(count:31 , 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	chr7:6096763..6100631-chr7:6141376..6146373,15	MCF-7	breast:
19	chr3:73160101..73161088-chr7:6143657..6144592,2	Hela-S3	cervix:
20	chr7:6065831..6068709-chr7:6141820..6144838,4	MCF-7	breast:
21	chr7:6143403..6145262-chr7:6310829..6313708,2	MCF-7	breast:
22	chr7:6143877..6144677-chr9:134000320..134001058,2	Hela-S3	cervix:
23	chr7:6143696..6144293-chr7:73153152..73153874,2	Hela-S3	cervix:
24	chr13:103248649..103249379-chr7:6143733..6144282,2	NB4	blood:
25	chr7:6094497..6101614-chr7:6140891..6145784,14	K562	blood:
26	chr7:6142905..6144683-chr7:6522279..6524664,2	MCF-7	breast:
27	chr19:17516059..17516719-chr7:6143769..6144365,2	NB4	blood:
28	chr7:6118878..6122850-chr7:6140823..6146720,14	MCF-7	breast:
29	chr7:6054346..6056159-chr7:6142852..6144380,2	K562	blood:
30	chr7:6094946..6099638-chr7:6140891..6146239,12	K562	blood:
31	chr1:117601936..117602864-chr7:6143842..6144663,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
USP42	TF binding region
ENSG00000126883	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000130303	Chromatin interaction
ENSG00000122512	Chromatin interaction
ENSG00000236137	Chromatin interaction
ENSG00000252929	Chromatin interaction
ENSG00000107614	Chromatin interaction
ENSG00000106077	Chromatin interaction
ENSG00000231704	Chromatin interaction
ENSG00000086232	Chromatin interaction
ENSG00000264605	Chromatin interaction
ENSG00000106305	Chromatin interaction
ENSG00000131187	Chromatin interaction
ENSG00000141971	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000207217	Chromatin interaction
ENSG00000082258	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000198055	Chromatin interaction
ENSG00000134697	Chromatin interaction
ENSG00000269781	Chromatin interaction
ENSG00000008256	Chromatin interaction
ENSG00000224043	Chromatin interaction
ENSG00000134900	Chromatin interaction
ENSG00000269640	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	chr7:6139200-6144000	Weak transcription	Spleen	Spleen
2	chr7:6142800-6144400	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr7:6143200-6144000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr7:6143200-6144400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:6143200-6144400	Active TSS	A549	lung
6	chr7:6143200-6145200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:6143200-6145600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:6143200-6146200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:6143200-6146200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:6143200-6146200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:6143200-6146400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:6143400-6144000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr7:6143400-6144000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:6143400-6144000	Flanking Active TSS	Fetal Thymus	thymus
15	chr7:6143400-6144000	Active TSS	Right Atrium	heart
16	chr7:6143400-6144000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr7:6143400-6144000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:6143400-6144200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:6143400-6144200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr7:6143400-6144200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr7:6143400-6144200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:6143400-6144200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr7:6143400-6144400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:6143400-6144400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:6143400-6144400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:6143400-6144400	Active TSS	Brain Hippocampus Middle	brain
27	chr7:6143400-6144400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:6143400-6144400	Active TSS	Brain Substantia Nigra	brain
29	chr7:6143400-6144400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:6143400-6144400	Active TSS	Fetal Kidney	kidney
31	chr7:6143400-6144400	Active TSS	NHDF-Ad	bronchial
32	chr7:6143400-6145400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:6143400-6145400	Active TSS	Brain Angular Gyrus	brain
34	chr7:6143400-6145800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:6143400-6146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:6143400-6146000	Active TSS	Muscle Satellite Cultured Cells	--
37	chr7:6143400-6146000	Active TSS	Brain Anterior Caudate	brain
38	chr7:6143400-6146000	Active TSS	Rectal Smooth Muscle	rectum
39	chr7:6143400-6146200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:6143400-6146400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:6143400-6146400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:6143400-6146400	Active TSS	HSMM	muscle
43	chr7:6143400-6146800	Active TSS	HSMMtube	muscle
44	chr7:6143600-6144200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr7:6143600-6144200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:6143600-6144400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:6143600-6144400	Active TSS	Brain Cingulate Gyrus	brain
48	chr7:6143600-6144400	Active TSS	Placenta Amnion	Placenta Amnion
49	chr7:6143600-6144400	Active TSS	GM12878-XiMat	blood
50	chr7:6143600-6144400	Active TSS	K562	blood

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