Variant report

Variant	rs10982443
Chromosome Location	chr9:117658790-117658791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10118244	0.87[EUR][1000 genomes]
rs10124990	0.87[EUR][1000 genomes]
rs10817681	0.96[EUR][1000 genomes]
rs10982448	0.96[EUR][1000 genomes]
rs1108983	1.00[EUR][1000 genomes]
rs3181192	0.87[EUR][1000 genomes]
rs3181346	0.87[EUR][1000 genomes]
rs3181349	0.96[EUR][1000 genomes]
rs3181350	0.96[EUR][1000 genomes]
rs3181353	0.96[EUR][1000 genomes]
rs3181359	0.96[EUR][1000 genomes]
rs61024439	0.96[EUR][1000 genomes]
rs7028089	0.96[EUR][1000 genomes]
rs73659305	1.00[AFR][1000 genomes]
rs7854103	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831695	chr9:117567626-117726247	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv893767	chr9:117627569-117689838	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117652600-117660000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:117652600-117662000	Weak transcription	Gastric	stomach
3	chr9:117654400-117659000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr9:117654400-117661000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr9:117655200-117660600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:117655200-117661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr9:117655400-117660200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:117655400-117660200	Enhancers	NHLF	lung
9	chr9:117655400-117661400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr9:117655600-117664800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr9:117655800-117659200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:117655800-117660200	Enhancers	Osteobl	bone
13	chr9:117656000-117660200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr9:117656200-117660800	Enhancers	Primary B cells from cord blood	blood
15	chr9:117656200-117663400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr9:117656400-117660600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr9:117656400-117663600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr9:117656600-117660800	Enhancers	Primary T cells from cord blood	blood
19	chr9:117657000-117659400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:117657200-117660000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr9:117657200-117662800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr9:117657200-117663600	Weak transcription	HSMMtube	muscle
23	chr9:117657400-117660000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:117657600-117661200	Weak transcription	Esophagus	oesophagus
25	chr9:117657600-117661800	Weak transcription	Stomach Mucosa	stomach
26	chr9:117657800-117658800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:117657800-117659000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr9:117657800-117659200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr9:117657800-117659200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr9:117657800-117659600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr9:117657800-117659800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:117657800-117659800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:117657800-117659800	Weak transcription	Fetal Thymus	thymus
34	chr9:117657800-117659800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:117657800-117660800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr9:117657800-117661000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:117657800-117661800	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:117657800-117661800	Weak transcription	Right Ventricle	heart
39	chr9:117657800-117663200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:117657800-117664600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:117657800-117665400	Enhancers	HUVEC	blood vessel
42	chr9:117657800-117669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:117658000-117659800	Weak transcription	Thymus	Thymus
44	chr9:117658000-117662200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:117658000-117663200	Weak transcription	HMEC	breast
46	chr9:117658000-117663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:117658200-117658800	Weak transcription	Fetal Intestine Large	intestine
48	chr9:117658200-117659600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:117658200-117659600	Weak transcription	NH-A	brain
50	chr9:117658200-117660000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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