Variant report

Variant	rs10991609
Chromosome Location	chr9:108062086-108062087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:108006089..108008759-chr9:108057985..108062385,6	MCF-7	breast:
2	chr9:108053113..108055212-chr9:108060978..108062866,2	MCF-7	breast:
3	chr9:108061298..108064082-chr9:108078853..108080505,2	K562	blood:
4	chr9:108044800..108047623-chr9:108061922..108064222,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070214	Chromatin interaction

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

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

rs_ID	r²[population]
rs12378850	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs327989	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs328009	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs328016	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs384825	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs388909	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs391232	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs391386	1.00[EUR][1000 genomes]
rs451915	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893690	chr9:107992706-108083485	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108049400-108074200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:108053000-108063000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:108054000-108065400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:108054000-108070000	Weak transcription	Gastric	stomach
5	chr9:108054600-108090800	Weak transcription	Psoas Muscle	Psoas
6	chr9:108055200-108065000	Weak transcription	Primary B cells from cord blood	blood
7	chr9:108055600-108151200	Weak transcription	Esophagus	oesophagus
8	chr9:108056600-108062200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:108056800-108077800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr9:108057000-108064200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr9:108057000-108066800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr9:108057400-108082600	Weak transcription	Dnd41	blood
13	chr9:108058200-108062600	Enhancers	NHDF-Ad	bronchial
14	chr9:108058200-108063000	Enhancers	Stomach Mucosa	stomach
15	chr9:108059200-108065800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr9:108059400-108062800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:108059400-108081200	Weak transcription	Fetal Kidney	kidney
18	chr9:108059800-108062200	Enhancers	Lung	lung
19	chr9:108059800-108062600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:108060000-108075000	Weak transcription	Ovary	ovary
21	chr9:108060200-108077000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr9:108060400-108068200	Weak transcription	Fetal Heart	heart
23	chr9:108060600-108071000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:108060800-108062600	Enhancers	NH-A	brain
25	chr9:108061000-108062400	Enhancers	NHLF	lung
26	chr9:108061000-108062600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr9:108061000-108062600	Enhancers	HMEC	breast
28	chr9:108061000-108062600	Enhancers	HSMMtube	muscle
29	chr9:108061000-108062600	Enhancers	K562	blood
30	chr9:108061000-108062800	Enhancers	HSMM	muscle
31	chr9:108061000-108069600	Weak transcription	Fetal Brain Male	brain
32	chr9:108061200-108062200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:108061200-108062200	Genic enhancers	Monocytes-CD14+_RO01746	blood
34	chr9:108061200-108062200	Enhancers	NHEK	skin
35	chr9:108061200-108062400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:108061200-108062600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:108061200-108062600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:108061200-108062600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr9:108061200-108062600	Genic enhancers	Fetal Intestine Large	intestine
40	chr9:108061200-108062800	Genic enhancers	Fetal Intestine Small	intestine
41	chr9:108061200-108062800	Enhancers	Small Intestine	intestine
42	chr9:108061200-108063000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:108061200-108063400	Genic enhancers	Brain Hippocampus Middle	brain
44	chr9:108061200-108066400	Strong transcription	Primary T cells from cord blood	blood
45	chr9:108061400-108062200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:108061400-108062200	Genic enhancers	H9 Cell Line	embryonic stem cell
47	chr9:108061400-108062200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:108061400-108062200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr9:108061400-108062200	Flanking Active TSS	A549	lung
50	chr9:108061400-108062400	Genic enhancers	HUES6 Cell Line	embryonic stem cell

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