Variant report

Variant	rs10984311
Chromosome Location	chr9:100672143-100672144
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100670192..100672522-chr9:100853837..100856499,2	K562	blood:
2	chr9:100671518..100673484-chr9:100683338..100685757,2	MCF-7	breast:
3	chr9:100647081..100648971-chr9:100671195..100672929,2	K562	blood:
4	chr9:100667967..100674161-chr9:100680279..100686236,11	K562	blood:
5	chr9:100668512..100673720-chr9:100674176..100679549,8	K562	blood:

Variant related genes	Relation type
ENSG00000136932	Chromatin interaction
ENSG00000106785	Chromatin interaction
ENSG00000201830	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1007506	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10115216	0.88[CHB][hapmap]
rs10512255	0.88[CHB][hapmap]
rs10739526	0.88[CHB][hapmap]
rs10818284	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10984079	0.86[ASN][1000 genomes]
rs10984134	0.86[ASN][1000 genomes]
rs10984156	0.86[ASN][1000 genomes]
rs10984195	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10984218	0.90[ASN][1000 genomes]
rs10984222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10984253	0.88[CHB][hapmap]
rs10984393	0.95[ASN][1000 genomes]
rs10984421	0.84[ASN][1000 genomes]
rs10984422	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10984424	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10984481	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10984510	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12004762	0.88[CHB][hapmap]
rs12006522	0.88[CHB][hapmap]
rs12342417	0.88[CHB][hapmap]
rs1561957	0.88[CHB][hapmap]
rs1561961	0.88[CHB][hapmap]
rs2120262	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs2282190	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs28417086	0.90[ASN][1000 genomes]
rs28697997	0.90[ASN][1000 genomes]
rs3021525	0.88[ASN][1000 genomes]
rs3758250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3808893	0.88[CHB][hapmap]
rs3808895	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3824495	0.88[CHB][hapmap]
rs4743149	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7031386	0.88[CHB][hapmap]
rs7034336	0.82[CHB][hapmap]
rs7036589	0.88[CHB][hapmap]
rs7037324	0.88[CHB][hapmap]
rs7038998	0.86[CHB][hapmap]
rs7048255	1.00[CHB][hapmap]
rs72753537	0.86[ASN][1000 genomes]
rs9299258	0.88[CHB][hapmap]

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	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1048135	chr9:100666931-100717030	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv525113	chr9:100669799-100686815	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100656800-100672400	Weak transcription	Stomach Mucosa	stomach
2	chr9:100658600-100672200	Weak transcription	Esophagus	oesophagus
3	chr9:100658800-100681800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:100662800-100684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:100663000-100672200	Weak transcription	Colonic Mucosa	Colon
6	chr9:100663200-100672200	Weak transcription	HSMM	muscle
7	chr9:100663400-100672600	Weak transcription	A549	lung
8	chr9:100664000-100673200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:100664400-100672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:100665400-100679000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:100665600-100678200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:100666600-100675400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:100666600-100676000	Strong transcription	Fetal Intestine Large	intestine
14	chr9:100666800-100675800	Strong transcription	Fetal Stomach	stomach
15	chr9:100667000-100675800	Strong transcription	Fetal Intestine Small	intestine
16	chr9:100667200-100679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:100667200-100684200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:100667400-100672200	Weak transcription	Fetal Lung	lung
19	chr9:100667800-100672200	Weak transcription	Psoas Muscle	Psoas
20	chr9:100667800-100674000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:100668000-100672400	Weak transcription	Fetal Kidney	kidney
22	chr9:100669000-100674600	Weak transcription	HUVEC	blood vessel
23	chr9:100669400-100672800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:100669400-100673000	Strong transcription	Hela-S3	cervix
25	chr9:100669400-100673800	Strong transcription	Aorta	Aorta
26	chr9:100669400-100675800	Strong transcription	Brain Germinal Matrix	brain
27	chr9:100669400-100675800	Strong transcription	Fetal Muscle Leg	muscle
28	chr9:100669600-100673600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr9:100669600-100678600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr9:100669600-100678800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr9:100669800-100674800	Genic enhancers	Primary T cells from cord blood	blood
32	chr9:100669800-100675400	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr9:100669800-100676400	Strong transcription	K562	blood
34	chr9:100669800-100678400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:100670000-100673800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr9:100670000-100676200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr9:100670000-100678600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr9:100670000-100684200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr9:100670200-100672200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr9:100670200-100673200	Strong transcription	NHLF	lung
41	chr9:100670200-100675400	Strong transcription	Brain Substantia Nigra	brain
42	chr9:100670200-100675800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr9:100670200-100678600	Strong transcription	Liver	Liver
44	chr9:100670200-100678600	Strong transcription	Placenta	Placenta
45	chr9:100670200-100678600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr9:100670400-100672400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr9:100670400-100673800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:100670400-100675600	Strong transcription	Brain Hippocampus Middle	brain
49	chr9:100670400-100677000	Strong transcription	GM12878-XiMat	blood
50	chr9:100670400-100678400	Strong transcription	Dnd41	blood

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