Variant report

Variant	rs2103301
Chromosome Location	chr9:94561730-94561731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94560025..94562581-chr9:94709584..94711088,2	K562	blood:
2	chr9:94559930..94562957-chr9:94564256..94567376,4	K562	blood:
3	chr9:94561614..94563695-chr9:94575590..94578350,2	K562	blood:
4	chr9:94560147..94563596-chr9:94565851..94569196,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10761131	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10820904	1.00[CEU][hapmap]
rs10992115	1.00[CEU][hapmap];0.86[MEX][hapmap]
rs10992116	1.00[CEU][hapmap]
rs10992117	1.00[CEU][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs10992118	1.00[CEU][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10992119	1.00[CEU][hapmap];0.80[MEX][hapmap]
rs10992120	1.00[CEU][hapmap]
rs10992121	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs12336034	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12683746	0.90[AMR][1000 genomes]
rs16907793	1.00[CEU][hapmap];0.86[MEX][hapmap]
rs16907798	1.00[CEU][hapmap];0.90[AMR][1000 genomes]
rs28580750	0.91[EUR][1000 genomes]
rs35357880	0.90[AMR][1000 genomes]
rs3802380	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743852	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes]
rs4743854	1.00[CEU][hapmap];0.90[AMR][1000 genomes]
rs4744101	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes]
rs4744102	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744103	1.00[CEU][hapmap];0.90[AMR][1000 genomes]
rs59394284	0.87[AMR][1000 genomes]
rs73513266	0.90[AMR][1000 genomes]
rs7849482	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7855006	0.85[AMR][1000 genomes]
rs7855609	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs7858240	1.00[CEU][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs7861514	1.00[CEU][hapmap]
rs7867961	1.00[CEU][hapmap]
rs7872107	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs7872492	1.00[CEU][hapmap];0.90[AMR][1000 genomes]
rs9299398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers 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	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv523940	chr9:94546564-94573753	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv518372	chr9:94558126-94605908	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94555400-94562000	Weak transcription	Right Atrium	heart
2	chr9:94558400-94566400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:94558600-94565200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:94559000-94562000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:94560600-94561800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:94560600-94562000	Enhancers	Stomach Mucosa	stomach
7	chr9:94560600-94562200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr9:94560800-94561800	Enhancers	Pancreas	Pancrea
9	chr9:94560800-94561800	Enhancers	Spleen	Spleen
10	chr9:94560800-94568000	Enhancers	Rectal Smooth Muscle	rectum
11	chr9:94561000-94561800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:94561000-94562000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:94561000-94562000	Enhancers	Primary B cells from peripheral blood	blood
14	chr9:94561000-94562000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:94561000-94562000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr9:94561000-94562000	Enhancers	Esophagus	oesophagus
17	chr9:94561000-94562000	Enhancers	Fetal Intestine Small	intestine
18	chr9:94561000-94562000	Enhancers	Gastric	stomach
19	chr9:94561000-94562000	Flanking Active TSS	K562	blood
20	chr9:94561000-94562200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:94561000-94562200	Enhancers	Fetal Intestine Large	intestine
22	chr9:94561000-94562200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr9:94561000-94562200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr9:94561000-94563600	Enhancers	Fetal Stomach	stomach
25	chr9:94561000-94567600	Enhancers	Ovary	ovary
26	chr9:94561000-94567800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr9:94561200-94561800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:94561200-94561800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr9:94561200-94561800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr9:94561200-94562000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:94561200-94562200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:94561200-94562200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr9:94561200-94563600	Enhancers	Fetal Heart	heart
34	chr9:94561400-94561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:94561400-94561800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr9:94561400-94561800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr9:94561400-94561800	Enhancers	Colonic Mucosa	Colon
38	chr9:94561400-94561800	Enhancers	GM12878-XiMat	blood
39	chr9:94561400-94561800	Enhancers	NHEK	skin
40	chr9:94561400-94562000	Enhancers	Duodenum Mucosa	Duodenum
41	chr9:94561400-94562000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr9:94561400-94562200	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr9:94561400-94562800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr9:94561400-94564600	Weak transcription	NHDF-Ad	bronchial
45	chr9:94561400-94567400	Enhancers	Fetal Lung	lung
46	chr9:94561600-94561800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr9:94561600-94561800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr9:94561600-94562000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr9:94561600-94562200	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr9:94561600-94562200	Bivalent Enhancer	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links