Variant report

Variant	rs2197008
Chromosome Location	chr9:21685404-21685405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:21588453..21590122-chr9:21684881..21686548,2	MCF-7	breast:
2	chr5:150593443..150594007-chr9:21684916..21685496,2	HCT-116	colon:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10811582	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12380505	0.86[JPT][hapmap]
rs1377195	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1377196	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1889680	0.82[JPT][hapmap]
rs2123338	0.82[JPT][hapmap]
rs4428748	0.82[ASN][1000 genomes]
rs7034820	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7041676	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015623	chr9:21579110-21694039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv892742	chr9:21589041-21707372	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892743	chr9:21675545-21772064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21678000-21688200	Enhancers	HMEC	breast
2	chr9:21678400-21687400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:21680400-21686000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:21680400-21688200	Flanking Active TSS	A549	lung
5	chr9:21680400-21688200	Enhancers	Osteobl	bone
6	chr9:21680400-21691000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:21682200-21687800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:21682200-21688000	Enhancers	NHDF-Ad	bronchial
9	chr9:21683200-21688000	Weak transcription	Small Intestine	intestine
10	chr9:21684000-21686000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:21684400-21685600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:21684400-21686000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr9:21684400-21686000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:21684600-21685800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr9:21684600-21687200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:21684600-21688400	Enhancers	NHLF	lung
17	chr9:21684800-21685800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:21684800-21686000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:21684800-21686200	Enhancers	HSMM	muscle
20	chr9:21684800-21686600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:21684800-21688200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:21685000-21685800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:21685000-21686000	Enhancers	Esophagus	oesophagus
24	chr9:21685000-21688000	Enhancers	Stomach Mucosa	stomach
25	chr9:21685000-21688200	Enhancers	NH-A	brain
26	chr9:21685200-21691000	Enhancers	Hela-S3	cervix
27	chr9:21685200-21695600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:21685400-21685600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:21685400-21685600	Flanking Active TSS	NHEK	skin
30	chr9:21685400-21685800	Flanking Active TSS	HUVEC	blood vessel
31	chr9:21685400-21688200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr9:21685400-21688400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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