Variant report

Variant	rs370090761
Chromosome Location	chr7:5938067-5938068
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:5938050-5938731	ProgFib	skin:	n/a	n/a
2	POU2F2	chr7:5937999-5938776	GM12878	blood:	n/a	n/a
3	HEY1	chr7:5938034-5938669	HepG2	liver:	n/a	n/a
4	SP1	chr7:5938008-5938781	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:5937695-5938725	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr7:5937997-5938973	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:5938064-5938438	GM19193	blood:	n/a	n/a
8	NR2F2	chr7:5937921-5938518	K562	blood:	n/a	n/a
9	POLR2A	chr7:5937334-5938785	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr7:5937902-5938598	SK-N-SH	brain:	n/a	n/a
11	GABPA	chr7:5938036-5938395	A549	lung:	n/a	n/a
12	SP1	chr7:5938041-5938539	A549	lung:	n/a	n/a
13	POLR2A	chr7:5938062-5938324	U87	brain:	n/a	n/a
14	POLR2A	chr7:5938067-5938450	MCF10A-Er-Src	breast:	n/a	n/a
15	SPI1	chr7:5937954-5938572	GM12878	blood:	n/a	n/a
16	HEY1	chr7:5938017-5938736	K562	blood:	n/a	n/a
17	IRF4	chr7:5938013-5938558	GM12878	blood:	n/a	n/a
18	ELF1	chr7:5938033-5938427	GM12878	blood:	n/a	chr7:5938326-5938335
19	CBX3	chr7:5937356-5938688	K562	blood:	n/a	n/a
20	POLR2A	chr7:5937822-5938933	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:5938024-5938646	A549	lung:	n/a	n/a
22	GABPA	chr7:5938058-5938412	MCF-7	breast:	n/a	n/a
23	POLR2A	chr7:5937523-5939199	GM12892	blood:	n/a	n/a
24	POU2F2	chr7:5937711-5939434	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:5937897-5939429	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:5937943-5938886	K562	blood:	n/a	n/a
27	GABPA	chr7:5937849-5938752	HepG2	liver:	n/a	n/a
28	SIN3AK20	chr7:5937943-5938709	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr7:5938066-5938432	GM12892	blood:	n/a	n/a
30	POLR2A	chr7:5937912-5938767	A549	lung:	n/a	n/a
31	TRIM28	chr7:5937945-5938516	K562	blood:	n/a	n/a
32	GABPA	chr7:5937957-5938784	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:5938046-5938327	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr7:5938044-5938569	HepG2	liver:	n/a	n/a
35	POLR2A	chr7:5937898-5938614	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:5938050-5938393	K562	blood:	n/a	n/a
37	POLR2A	chr7:5937846-5938955	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:5937975-5938742	MCF-7	breast:	n/a	n/a
39	POLR2A	chr7:5937820-5938765	SK-N-MC	brain:	n/a	n/a
40	HCFC1	chr7:5937950-5938447	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr7:5938023-5938602	U87	brain:	n/a	n/a
42	GABPA	chr7:5937777-5939112	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:5937919-5939157	GM12892	blood:	n/a	n/a
44	HEY1	chr7:5938023-5938916	K562	blood:	n/a	n/a
45	POLR2A	chr7:5937949-5938817	HUVEC	blood vessel:	n/a	n/a
46	HEY1	chr7:5937948-5938933	HepG2	liver:	n/a	n/a
47	POLR2A	chr7:5938001-5938611	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr7:5938063-5938454	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr7:5937742-5939032	GM12878	blood:	n/a	n/a
50	TAF1	chr7:5937967-5938913	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
CCZ1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
8	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv887420	chr7:5801820-5963545	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	nsv830892	chr7:5842044-5995489	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv433017	chr7:5853557-6045391	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1024675	chr7:5868561-5965441	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1017061	chr7:5885326-6026706	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1031583	chr7:5889011-5970922	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv830894	chr7:5889658-6072215	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv1026461	chr7:5891977-5970922	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv981428	chr7:5899882-5954957	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv1834433	chr7:5930582-5953089	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
24	nsv970995	chr7:5933809-5941534	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
25	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
26	esv274969	chr7:5936888-5965441	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5935200-5951600	Weak transcription	HMEC	breast
2	chr7:5937000-5938200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:5937000-5938200	Active TSS	GM12878-XiMat	blood
4	chr7:5937200-5938200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:5937400-5938200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:5937400-5938200	Active TSS	Brain Anterior Caudate	brain
7	chr7:5937400-5938200	Active TSS	Brain Cingulate Gyrus	brain
8	chr7:5937400-5938200	Enhancers	Brain Substantia Nigra	brain
9	chr7:5937400-5938400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:5937400-5938400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:5937400-5938400	Active TSS	Adipose Nuclei	Adipose
12	chr7:5937400-5938400	Active TSS	Brain Hippocampus Middle	brain
13	chr7:5937400-5938400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr7:5937400-5938400	Active TSS	Duodenum Mucosa	Duodenum
15	chr7:5937400-5938400	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr7:5937400-5938400	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr7:5937400-5938400	Active TSS	Hela-S3	cervix
18	chr7:5937400-5938400	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr7:5937400-5939600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:5937600-5938400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:5937600-5938400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:5937600-5938400	Active TSS	Psoas Muscle	Psoas
23	chr7:5937600-5938400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:5937600-5938400	Active TSS	Right Atrium	heart
25	chr7:5937600-5938400	Active TSS	HepG2	liver
26	chr7:5937600-5939400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:5937600-5939800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:5937600-5948600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:5937800-5938200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:5937800-5938200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:5937800-5938200	Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr7:5937800-5938200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:5937800-5938200	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr7:5937800-5938200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr7:5937800-5938200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:5937800-5938200	Active TSS	Colonic Mucosa	Colon
37	chr7:5937800-5938200	Active TSS	Colon Smooth Muscle	Colon
38	chr7:5937800-5938200	Active TSS	Fetal Intestine Large	intestine
39	chr7:5937800-5938200	Active TSS	Fetal Kidney	kidney
40	chr7:5937800-5938200	Active TSS	Fetal Lung	lung
41	chr7:5937800-5938200	Active TSS	A549	lung
42	chr7:5937800-5938200	Active TSS	NHDF-Ad	bronchial
43	chr7:5937800-5938400	Active TSS	H1 Cell Line	embryonic stem cell
44	chr7:5937800-5938400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:5937800-5938400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr7:5937800-5938400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:5937800-5938400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:5937800-5938400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:5937800-5938400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr7:5937800-5938400	Active TSS	Primary monocytes fromperipheralblood	blood

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