Variant report

Variant	rs73685154
Chromosome Location	chr7:21530780-21530781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10046561	1.00[EUR][1000 genomes]
rs10216269	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10228982	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10232146	1.00[EUR][1000 genomes]
rs10233925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234687	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10238881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10250403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10250517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252594	1.00[EUR][1000 genomes]
rs10254442	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10254858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255890	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10259756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10265366	1.00[EUR][1000 genomes]
rs10268107	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10271650	0.80[AFR][1000 genomes]
rs10274755	1.00[AFR][1000 genomes]
rs10275955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279096	1.00[EUR][1000 genomes]
rs10282629	1.00[EUR][1000 genomes]
rs12674126	1.00[AMR][1000 genomes]
rs2158415	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2285941	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28419471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28439880	1.00[EUR][1000 genomes]
rs28490171	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28528275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28580454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28646037	1.00[EUR][1000 genomes]
rs28657649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661383	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55645999	1.00[EUR][1000 genomes]
rs55840028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55879742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55908918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57142662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57213984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58025439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58223300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61043546	0.92[AFR][1000 genomes]
rs6946711	0.91[AFR][1000 genomes]
rs6947378	0.91[AFR][1000 genomes]
rs6953601	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6972886	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6973902	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682368	1.00[EUR][1000 genomes]
rs73682608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685129	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73685130	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685131	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685135	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685144	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685156	0.80[AFR][1000 genomes]
rs7792713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
2	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
3	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
4	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
5	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
6	chr7:21498200-21532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:21498600-21543600	Weak transcription	Pancreas	Pancrea
8	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:21501400-21531000	Weak transcription	Fetal Intestine Large	intestine
10	chr7:21503200-21532400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:21503200-21532400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:21504000-21532800	Weak transcription	Lung	lung
13	chr7:21505600-21536600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:21510800-21531800	Weak transcription	Fetal Intestine Small	intestine
15	chr7:21511600-21531800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:21514000-21536400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
18	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:21517400-21532200	Weak transcription	A549	lung
20	chr7:21518000-21532400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:21518200-21532200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:21518200-21536400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:21518200-21536400	Weak transcription	Fetal Kidney	kidney
24	chr7:21518800-21532000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:21520800-21532000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:21520800-21552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:21521000-21532000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:21521000-21532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:21521200-21552600	Weak transcription	Brain Angular Gyrus	brain
30	chr7:21522000-21533800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:21522400-21532200	Weak transcription	Adipose Nuclei	Adipose
32	chr7:21522800-21532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:21522800-21533000	Weak transcription	Liver	Liver
34	chr7:21523400-21531000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:21524600-21532000	Weak transcription	Fetal Lung	lung
36	chr7:21526800-21536400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:21527000-21536200	Weak transcription	Psoas Muscle	Psoas
38	chr7:21528600-21531400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:21529400-21531400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr7:21529600-21530800	ZNF genes & repeats	GM12878-XiMat	blood
41	chr7:21529600-21531200	Strong transcription	Fetal Thymus	thymus
42	chr7:21529800-21530800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:21529800-21531400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:21529800-21531400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:21529800-21531800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:21529800-21532200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:21529800-21534000	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr7:21529800-21539200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:21530000-21530800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr7:21530000-21534400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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