Variant report

Variant	rs10982521
Chromosome Location	chr9:117853103-117853104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10982540	0.87[EUR][1000 genomes]
rs10982541	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs10982617	1.00[CHD][hapmap]
rs12380758	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591420	0.87[CEU][hapmap]
rs3181354	1.00[JPT][hapmap]
rs55739619	0.87[EUR][1000 genomes]
rs56120022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726658	1.00[JPT][hapmap]
rs72760426	0.87[EUR][1000 genomes]
rs72760428	0.91[EUR][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	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893768	chr9:117853103-117903975	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117815400-117859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:117822400-117854400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:117827200-117855200	Strong transcription	NH-A	brain
4	chr9:117841200-117860600	Weak transcription	Fetal Kidney	kidney
5	chr9:117842800-117855200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:117847200-117856000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:117849000-117856400	Weak transcription	Brain Substantia Nigra	brain
8	chr9:117849400-117853200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:117849400-117855400	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:117849400-117855600	Weak transcription	Fetal Lung	lung
11	chr9:117849400-117856200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:117849400-117856800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:117849400-117876200	Weak transcription	Aorta	Aorta
14	chr9:117849400-117877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:117849600-117856400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:117849600-117857000	Weak transcription	Spleen	Spleen
17	chr9:117849600-117864600	Weak transcription	HMEC	breast
18	chr9:117849800-117854600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:117849800-117860400	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:117849800-117860600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:117850400-117853400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:117850800-117857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:117851200-117867200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:117851400-117853400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:117851600-117853400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:117851600-117853400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:117851600-117854400	Strong transcription	Osteobl	bone
28	chr9:117851600-117854600	Strong transcription	NHEK	skin
29	chr9:117851600-117855600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:117851800-117854000	Strong transcription	NHDF-Ad	bronchial
31	chr9:117851800-117855200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:117852000-117853200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr9:117852000-117853400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:117852000-117853400	Strong transcription	NHLF	lung
35	chr9:117852200-117853200	Strong transcription	Colon Smooth Muscle	Colon
36	chr9:117852200-117853200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:117852400-117853200	Genic enhancers	Rectal Smooth Muscle	rectum
38	chr9:117852400-117853400	Strong transcription	Fetal Stomach	stomach
39	chr9:117852400-117855400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:117852400-117857000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:117852600-117853400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:117852600-117853400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr9:117852800-117853400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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