Variant report

Variant	rs10982498
Chromosome Location	chr9:117786508-117786509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117158967..117160760-chr9:117784217..117787013,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10122770	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs10817703	0.82[CEU][hapmap];1.00[GIH][hapmap];0.91[EUR][1000 genomes]
rs10817704	0.82[CEU][hapmap];1.00[GIH][hapmap];0.87[EUR][1000 genomes]
rs10982495	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10982499	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10982505	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12156603	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12156617	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1330362	0.81[EUR][1000 genomes]
rs7035652	0.81[EUR][1000 genomes]
rs73551038	0.81[EUR][1000 genomes]
rs73551065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553151	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117773400-117803200	Weak transcription	Esophagus	oesophagus
2	chr9:117773600-117787200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:117776800-117791600	Weak transcription	Fetal Lung	lung
4	chr9:117779800-117787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:117781000-117788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:117781800-117791600	Weak transcription	Aorta	Aorta
7	chr9:117781800-117797400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:117781800-117798200	Weak transcription	Fetal Intestine Large	intestine
9	chr9:117781800-117798400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:117781800-117808600	Weak transcription	Fetal Intestine Small	intestine
11	chr9:117782000-117788200	Weak transcription	Spleen	Spleen
12	chr9:117782000-117789600	Weak transcription	Gastric	stomach
13	chr9:117782200-117786600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
15	chr9:117783000-117787200	Strong transcription	Colon Smooth Muscle	Colon
16	chr9:117783000-117787400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr9:117783200-117786800	Strong transcription	Fetal Muscle Leg	muscle
18	chr9:117783200-117789000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:117783200-117790000	Strong transcription	Fetal Stomach	stomach
20	chr9:117783200-117792400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:117783200-117796800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:117784200-117786800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr9:117784200-117787400	Genic enhancers	NHDF-Ad	bronchial
24	chr9:117784400-117786600	Genic enhancers	NHLF	lung
25	chr9:117784400-117788200	Genic enhancers	Osteobl	bone
26	chr9:117784400-117789000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:117784400-117790200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:117784400-117791600	Weak transcription	Fetal Kidney	kidney
29	chr9:117784600-117788000	Genic enhancers	NH-A	brain
30	chr9:117784600-117788200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:117784600-117788400	Enhancers	HMEC	breast
32	chr9:117784800-117786600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:117785000-117786800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:117785200-117787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:117785400-117787000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:117785400-117787200	Weak transcription	HSMMtube	muscle
37	chr9:117785600-117786600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:117785600-117787400	Genic enhancers	NHEK	skin
39	chr9:117785600-117787600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr9:117785600-117788200	Weak transcription	Lung	lung
41	chr9:117785800-117788200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:117786000-117786600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:117786000-117786600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:117786000-117788600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr9:117786200-117791400	Weak transcription	HSMM	muscle
46	chr9:117786200-117794800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:117786400-117786600	Strong transcription	Rectal Smooth Muscle	rectum
48	chr9:117786400-117789400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:117786400-117794800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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