Variant report

Variant	rs594594
Chromosome Location	chr10:38307723-38307724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38300184..38303990-chr10:38304744..38308090,4	K562	blood:

Variant related genes	Relation type
ENSG00000189180	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1007133	0.93[ASN][1000 genomes]
rs10764149	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10827831	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap]
rs10827844	0.93[ASN][1000 genomes]
rs11011384	0.83[ASN][1000 genomes]
rs11011401	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs11011405	0.93[ASN][1000 genomes]
rs11011426	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs11011431	1.00[ASN][1000 genomes]
rs1148287	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11594000	1.00[ASN][1000 genomes]
rs11598044	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1208555	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208556	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208560	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208573	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208587	0.89[CEU][hapmap];0.89[CHB][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208591	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208601	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1208633	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1208645	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs1208658	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208695	0.83[EUR][1000 genomes]
rs1212108	0.84[EUR][1000 genomes]
rs1212617	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12357256	0.88[ASN][1000 genomes]
rs12571785	0.93[ASN][1000 genomes]
rs12768276	1.00[ASN][1000 genomes]
rs1322319	0.83[ASN][1000 genomes]
rs1735621	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1735629	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1735641	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1779068	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1779075	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2092993	0.93[ASN][1000 genomes]
rs2092995	1.00[ASN][1000 genomes]
rs2103936	1.00[ASN][1000 genomes]
rs2142346	0.95[ASN][1000 genomes]
rs2144845	0.91[ASN][1000 genomes]
rs2144848	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2245081	1.00[ASN][1000 genomes]
rs2295872	0.83[ASN][1000 genomes]
rs2472149	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2474548	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2474549	1.00[ASN][1000 genomes]
rs2474606	1.00[CHB][hapmap]
rs2505220	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2505233	1.00[ASW][hapmap];0.94[CEU][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2505255	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2738185	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2738186	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs2738187	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2738190	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs2738191	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs2738193	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2738207	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs2738208	1.00[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2738209	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs2738210	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2738219	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2738222	0.93[ASN][1000 genomes]
rs2749559	0.93[ASN][1000 genomes]
rs2749563	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2749569	0.89[ASN][1000 genomes]
rs2749575	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs2749577	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs2749586	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2749587	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs2749588	0.88[CEU][hapmap];0.89[CHB][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2749589	0.89[CEU][hapmap];0.89[CHB][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2749593	1.00[ASN][1000 genomes]
rs2753878	0.93[ASN][1000 genomes]
rs2753879	0.93[ASN][1000 genomes]
rs2753880	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2753882	0.93[ASN][1000 genomes]
rs2799495	0.93[ASN][1000 genomes]
rs2799496	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs2799499	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs2799501	0.90[ASN][1000 genomes]
rs2799505	0.93[ASN][1000 genomes]
rs2799506	0.93[ASN][1000 genomes]
rs2799507	0.93[ASN][1000 genomes]
rs2799509	0.93[ASN][1000 genomes]
rs3824585	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap]
rs596118	1.00[ASN][1000 genomes]
rs598857	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs615718	1.00[ASN][1000 genomes]
rs615974	0.83[ASN][1000 genomes]
rs61857002	0.93[ASN][1000 genomes]
rs61858886	0.88[ASN][1000 genomes]
rs624359	1.00[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs628330	1.00[ASN][1000 genomes]
rs633029	1.00[ASN][1000 genomes]
rs633400	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs637255	0.94[CEU][hapmap];0.88[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs647617	0.97[ASN][1000 genomes]
rs650873	1.00[ASN][1000 genomes]
rs656126	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs658161	0.93[EUR][1000 genomes]
rs662928	0.88[CEU][hapmap];0.89[CHB][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs675628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688608	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9417267	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9417268	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9417282	0.82[ASN][1000 genomes]
rs9417283	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9418297	0.83[ASN][1000 genomes]
rs9418298	0.83[ASN][1000 genomes]
rs9418299	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[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	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers 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	26 gene(s)	inside rSNPs	diseases
7	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38300400-38319600	Weak transcription	Gastric	stomach
2	chr10:38300600-38318000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:38300600-38331600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:38300600-38336000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:38300600-38339400	Weak transcription	Psoas Muscle	Psoas
6	chr10:38300800-38308600	Weak transcription	HSMM	muscle
7	chr10:38300800-38322000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr10:38300800-38339200	Weak transcription	HSMMtube	muscle
9	chr10:38301200-38308400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:38301200-38308600	Weak transcription	Fetal Heart	heart
11	chr10:38301200-38311200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr10:38301200-38320400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr10:38301200-38325000	Weak transcription	NHLF	lung
14	chr10:38301400-38307800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:38301400-38308600	Strong transcription	Fetal Muscle Leg	muscle
16	chr10:38301400-38310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:38301400-38314200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr10:38301400-38316600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:38301400-38318800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:38301600-38308400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr10:38301600-38312800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr10:38301600-38320000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr10:38301800-38326600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:38301800-38344400	Weak transcription	Hela-S3	cervix
25	chr10:38302000-38308000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:38302000-38313000	Strong transcription	Brain Germinal Matrix	brain
27	chr10:38302200-38308600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr10:38302400-38311000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr10:38302400-38312200	Strong transcription	Fetal Thymus	thymus
30	chr10:38302400-38327400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:38302600-38314400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr10:38302800-38307800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr10:38302800-38310000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr10:38302800-38311000	Strong transcription	Adipose Nuclei	Adipose
35	chr10:38302800-38311000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr10:38302800-38316800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:38302800-38327200	Strong transcription	Fetal Intestine Large	intestine
38	chr10:38302800-38327400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:38303000-38313000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr10:38303000-38313200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr10:38303000-38316600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr10:38303200-38312800	Strong transcription	Placenta	Placenta
43	chr10:38303200-38313200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr10:38303200-38320200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:38303200-38326400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:38303200-38327800	Strong transcription	Primary B cells from cord blood	blood
47	chr10:38303400-38308400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:38303400-38310000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr10:38303400-38316800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:38303600-38307800	Strong transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links