Variant report

Variant	rs10229313
Chromosome Location	chr7:140467430-140467431
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	chr7:140466871..140469366-chr7:140475800..140478111,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10225852	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227524	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227617	1.00[AMR][1000 genomes]
rs10233173	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236260	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241940	0.88[YRI][hapmap]
rs10245178	0.88[YRI][hapmap]
rs10247601	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10247753	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs10251357	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252634	0.85[AFR][1000 genomes]
rs10254605	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255257	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255271	0.88[YRI][hapmap]
rs10255476	0.82[AFR][1000 genomes]
rs10268332	0.89[YRI][hapmap]
rs10271135	0.87[YRI][hapmap]
rs10279071	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs10280112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10280479	0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10441168	1.00[AMR][1000 genomes]
rs11974522	0.82[AFR][1000 genomes]
rs11979399	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11979913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446531	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28456012	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28481617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28505512	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28541336	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28612236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28627200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718470	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71645987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv869260	chr7:140404835-140542905	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1033652	chr7:140454068-140469620	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140398200-140473800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:140398200-140492600	Weak transcription	Colonic Mucosa	Colon
3	chr7:140398600-140491800	Weak transcription	Fetal Brain Male	brain
4	chr7:140399400-140468200	Weak transcription	Right Ventricle	heart
5	chr7:140400000-140474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:140404800-140489000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
8	chr7:140405200-140470800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:140405600-140472200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:140406600-140472800	Weak transcription	Hela-S3	cervix
11	chr7:140407200-140468400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:140415200-140472000	Weak transcription	Lung	lung
14	chr7:140415200-140506600	Weak transcription	Gastric	stomach
15	chr7:140421800-140474000	Weak transcription	Brain Angular Gyrus	brain
16	chr7:140424200-140468200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:140424400-140476600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:140425400-140468400	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:140426200-140473000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:140428200-140489400	Weak transcription	Small Intestine	intestine
21	chr7:140428600-140476600	Weak transcription	NHDF-Ad	bronchial
22	chr7:140431200-140474200	Weak transcription	Esophagus	oesophagus
23	chr7:140436800-140468200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:140438400-140482400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:140439600-140474800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:140440000-140468400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:140440000-140469600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:140440000-140472000	Weak transcription	Brain Anterior Caudate	brain
29	chr7:140440400-140476400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:140440600-140492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:140441400-140504000	Weak transcription	NHLF	lung
32	chr7:140444200-140485600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:140446000-140472800	Weak transcription	Fetal Heart	heart
34	chr7:140446200-140474800	Weak transcription	HSMM	muscle
35	chr7:140448000-140473400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:140449200-140474600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:140449400-140468800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:140450400-140468800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:140452400-140506200	Weak transcription	Pancreas	Pancrea
40	chr7:140453800-140468600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:140454000-140472800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:140454000-140476000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:140454200-140474400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:140454400-140469600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:140454400-140473000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:140454800-140468600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:140455200-140473200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:140455800-140475000	Weak transcription	GM12878-XiMat	blood
49	chr7:140456000-140471600	Weak transcription	Placenta	Placenta
50	chr7:140458200-140478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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