Variant report

Variant	rs7661515
Chromosome Location	chr4:48517352-48517353
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48510100..48513571-chr4:48516214..48518861,3	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10018344	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10029732	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10029785	0.81[JPT][hapmap]
rs10030853	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10031777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10049761	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[YRI][hapmap];0.81[EUR][1000 genomes]
rs10938534	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10938537	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11728565	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11734019	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11737677	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11933919	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11945562	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12503599	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12506098	0.86[EUR][1000 genomes]
rs12645501	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12645951	0.81[JPT][hapmap]
rs13108474	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13113370	0.81[EUR][1000 genomes]
rs13119041	0.89[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap]
rs13119504	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13127730	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13138269	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13151534	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1507862	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1507865	0.90[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1712768	0.86[EUR][1000 genomes]
rs1712772	0.81[EUR][1000 genomes]
rs17575720	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17656010	0.88[ASN][1000 genomes]
rs17656040	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17656076	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17656094	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1876469	0.89[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2089503	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2102397	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.89[TSI][hapmap]
rs2292231	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2354312	0.83[EUR][1000 genomes]
rs2354348	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28470767	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2940324	0.80[EUR][1000 genomes]
rs2945330	0.84[EUR][1000 genomes]
rs3107022	0.85[EUR][1000 genomes]
rs34558821	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34635008	0.87[EUR][1000 genomes]
rs392187	0.81[JPT][hapmap]
rs404445	0.81[JPT][hapmap]
rs411261	0.81[JPT][hapmap]
rs4536901	0.90[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4695391	0.90[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs59686413	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62311296	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6447640	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6447645	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6447647	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6447651	0.81[EUR][1000 genomes]
rs6811148	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6816010	0.81[JPT][hapmap]
rs6818954	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6819159	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6829716	0.90[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6830848	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6836632	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6843340	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6848073	0.82[JPT][hapmap]
rs6855022	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6856448	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7438704	0.85[JPT][hapmap]
rs7654770	0.90[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7667288	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7670939	0.81[EUR][1000 genomes]
rs7678379	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7679210	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7683398	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7693461	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7697851	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs776584	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs776590	0.87[EUR][1000 genomes]
rs776591	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs776601	0.86[EUR][1000 genomes]
rs796555	0.90[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs937888	0.90[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs937889	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs952289	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9884546	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs992423	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7661515	SLC10A4	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48493600-48523000	Weak transcription	Right Ventricle	heart
2	chr4:48495400-48523000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:48496200-48540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:48497000-48521600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:48498200-48539600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr4:48498200-48540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:48499200-48540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:48499400-48527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:48499600-48581400	Strong transcription	Dnd41	blood
13	chr4:48499800-48540000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr4:48500200-48517400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr4:48500400-48540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:48501000-48538800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:48501600-48523000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:48503400-48520400	Weak transcription	NHLF	lung
21	chr4:48504400-48575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:48504600-48534400	Strong transcription	Liver	Liver
23	chr4:48505200-48575400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:48505400-48538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:48505400-48540000	Strong transcription	HSMM	muscle
26	chr4:48506000-48538800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr4:48506400-48518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:48506800-48517600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:48507200-48517400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:48507200-48517400	Strong transcription	Fetal Intestine Large	intestine
31	chr4:48507200-48564000	Strong transcription	Fetal Thymus	thymus
32	chr4:48507400-48517400	Strong transcription	GM12878-XiMat	blood
33	chr4:48507400-48536200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:48507600-48517400	Strong transcription	HUVEC	blood vessel
35	chr4:48507600-48517600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:48507600-48517600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:48507600-48517600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:48507600-48519200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr4:48507600-48568600	Strong transcription	Primary T cells from cord blood	blood
40	chr4:48507800-48539400	Strong transcription	Primary B cells from cord blood	blood
41	chr4:48508800-48538800	Strong transcription	Primary hematopoietic stem cells	blood
42	chr4:48509000-48518200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:48509000-48519000	Strong transcription	Colonic Mucosa	Colon
44	chr4:48509200-48517400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:48509200-48517600	Strong transcription	Adipose Nuclei	Adipose
46	chr4:48509400-48518200	Strong transcription	Fetal Muscle Leg	muscle
47	chr4:48509400-48540000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:48510400-48517800	Strong transcription	Placenta	Placenta
49	chr4:48510600-48525000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:48510600-48538800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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