Variant report

Variant	rs3217978
Chromosome Location	chr9:22007330-22007331
allele	G/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	chr9:22007121-22007365	Hela-S3	cervix:	n/a	n/a
2	TAF1	chr9:22007137-22007411	Hela-S3	cervix:	n/a	n/a
3	GTF3C2	chr9:22007022-22007379	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:22006854-22007573	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr9:22007275-22007459	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:22005608..22009530-chr9:22211237..22215024,4	MCF-7	breast:
2	chr9:21800247..21802715-chr9:22007122..22010872,3	MCF-7	breast:
3	chr9:22007147..22011040-chr9:22011810..22014340,4	MCF-7	breast:

Variant related genes	Relation type
UBA52P6	TF binding region
CDKN2B	TF binding region
ENSG00000264545	Chromatin interaction
ENSG00000236921	Chromatin interaction
ENSG00000099810	Chromatin interaction
ENSG00000215221	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1855185	1.00[AFR][1000 genomes]
rs72655407	1.00[AFR][1000 genomes]
rs73440448	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1821117	chr9:21933029-22012229	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv892746	chr9:21953137-22028801	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv892748	chr9:22005647-22011642	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv613760	chr9:22006269-22009960	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv973479	chr9:22006327-22010710	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21995800-22008400	Weak transcription	Aorta	Aorta
2	chr9:21996400-22007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:22005000-22008400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr9:22005600-22009400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:22005800-22007400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:22005800-22009800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:22006200-22008000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:22006200-22008600	Weak transcription	Gastric	stomach
9	chr9:22006200-22008600	Weak transcription	Lung	lung
10	chr9:22006200-22008800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:22006200-22009600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:22006400-22007400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:22006400-22007400	Active TSS	Esophagus	oesophagus
14	chr9:22006400-22007600	Weak transcription	HSMM	muscle
15	chr9:22006400-22008000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:22006400-22008000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:22006400-22008200	Active TSS	Adipose Nuclei	Adipose
18	chr9:22006400-22008400	Weak transcription	Right Ventricle	heart
19	chr9:22006400-22008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:22006400-22008600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:22006400-22008600	Weak transcription	Pancreas	Pancrea
22	chr9:22006400-22009400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr9:22006400-22009400	Active TSS	HMEC	breast
24	chr9:22006400-22010000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr9:22006400-22010000	Active TSS	HSMMtube	muscle
26	chr9:22006600-22007400	Weak transcription	Osteobl	bone
27	chr9:22006600-22009400	Active TSS	Duodenum Mucosa	Duodenum
28	chr9:22006600-22009400	Active TSS	Hela-S3	cervix
29	chr9:22006600-22009400	Active TSS	NHEK	skin
30	chr9:22006600-22009600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:22006600-22009600	Active TSS	NHLF	lung
32	chr9:22006600-22010000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:22006800-22007400	Weak transcription	NHDF-Ad	bronchial
34	chr9:22006800-22010000	Active TSS	NH-A	brain
35	chr9:22007000-22007400	Enhancers	Dnd41	blood
36	chr9:22007200-22007400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:22007200-22009400	Active TSS	Rectal Mucosa Donor 29	rectum

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