Variant report

Variant	rs300938
Chromosome Location	chr4:144172791-144172792
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144168813..144170939-chr4:144171270..144172929,2	K562	blood:
2	chr4:144171110..144173902-chr4:144193418..144195757,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:190)

rs_ID	r²[population]
rs10000911	0.95[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10001113	0.93[ASN][1000 genomes]
rs10002867	0.93[ASN][1000 genomes]
rs10002888	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10003529	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10004364	0.84[ASN][1000 genomes]
rs10004598	0.85[ASN][1000 genomes]
rs10009906	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010367	0.93[ASN][1000 genomes]
rs10011709	0.90[ASN][1000 genomes]
rs10012434	0.90[ASN][1000 genomes]
rs10012713	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs10015190	0.90[ASN][1000 genomes]
rs10015279	0.81[ASN][1000 genomes]
rs10015751	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10019249	0.90[ASN][1000 genomes]
rs10026015	0.93[ASN][1000 genomes]
rs10028434	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10029373	0.93[ASN][1000 genomes]
rs10029419	0.87[EUR][1000 genomes]
rs10031363	0.91[ASN][1000 genomes]
rs10033104	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034769	0.85[ASN][1000 genomes]
rs10155434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039762	0.93[ASN][1000 genomes]
rs1039763	0.93[ASN][1000 genomes]
rs10434185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519678	0.92[ASN][1000 genomes]
rs10857405	0.85[ASN][1000 genomes]
rs11100770	0.85[ASN][1000 genomes]
rs11100771	0.85[ASN][1000 genomes]
rs11100772	0.82[ASN][1000 genomes]
rs11100778	0.89[ASN][1000 genomes]
rs11100779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11100780	0.94[CHD][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs11100781	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100782	0.92[ASN][1000 genomes]
rs11100783	0.93[ASN][1000 genomes]
rs11724872	0.94[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11725565	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11727441	0.93[ASN][1000 genomes]
rs11728962	0.87[ASN][1000 genomes]
rs11732484	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737209	0.93[ASN][1000 genomes]
rs11933603	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11940580	0.93[ASN][1000 genomes]
rs11947142	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12499485	0.92[ASN][1000 genomes]
rs12501994	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12505142	0.92[ASN][1000 genomes]
rs12506120	0.86[ASN][1000 genomes]
rs12640698	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12649219	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13102238	0.84[ASN][1000 genomes]
rs13106497	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs13113047	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114280	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13116414	0.92[ASN][1000 genomes]
rs13116507	0.86[ASN][1000 genomes]
rs13118943	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13119330	0.92[ASN][1000 genomes]
rs13128884	0.93[ASN][1000 genomes]
rs13137565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13138084	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13139457	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs13140643	0.85[ASN][1000 genomes]
rs13151561	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440410	0.92[ASN][1000 genomes]
rs1440411	0.93[ASN][1000 genomes]
rs1440412	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1440414	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440416	0.93[ASN][1000 genomes]
rs1440418	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440419	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470130	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1605581	0.93[ASN][1000 genomes]
rs2010767	0.92[ASN][1000 genomes]
rs2119269	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2165301	0.92[ASN][1000 genomes]
rs2165302	0.93[ASN][1000 genomes]
rs2323076	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2323077	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28470858	0.92[ASN][1000 genomes]
rs28592151	0.90[ASN][1000 genomes]
rs28649839	0.93[ASN][1000 genomes]
rs300894	0.81[CEU][hapmap]
rs300921	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300924	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300925	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300927	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs300929	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs300934	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300939	0.93[ASN][1000 genomes]
rs300940	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300941	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300943	0.81[CEU][hapmap];0.81[CHD][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs300947	0.81[EUR][1000 genomes]
rs300951	0.85[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs300953	0.81[EUR][1000 genomes]
rs34168479	0.93[ASN][1000 genomes]
rs34342939	0.92[ASN][1000 genomes]
rs34664017	0.90[ASN][1000 genomes]
rs3910622	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4131029	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4132266	0.94[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4234886	0.94[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4234887	0.92[ASN][1000 genomes]
rs4285045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4290853	0.92[ASN][1000 genomes]
rs4318600	0.85[ASN][1000 genomes]
rs4323054	0.85[ASN][1000 genomes]
rs4323055	0.85[ASN][1000 genomes]
rs4333135	0.86[ASN][1000 genomes]
rs4336176	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4407450	0.92[ASN][1000 genomes]
rs4413361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4502634	0.85[ASN][1000 genomes]
rs4511955	0.88[ASN][1000 genomes]
rs4513514	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4561881	0.86[ASN][1000 genomes]
rs4566607	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4574353	0.92[ASN][1000 genomes]
rs4579067	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4582112	0.93[ASN][1000 genomes]
rs4626148	0.85[ASN][1000 genomes]
rs4637346	0.93[ASN][1000 genomes]
rs4690715	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4690771	0.85[ASN][1000 genomes]
rs4690775	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4690777	0.92[ASN][1000 genomes]
rs4690778	0.88[ASN][1000 genomes]
rs4690779	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4690780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4690781	0.92[ASN][1000 genomes]
rs4690783	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs534750	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57168887	0.92[ASN][1000 genomes]
rs587254	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592349	0.81[EUR][1000 genomes]
rs632359	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537150	0.85[ASN][1000 genomes]
rs6537151	0.85[ASN][1000 genomes]
rs6812522	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6816223	0.87[ASN][1000 genomes]
rs6818149	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs6820340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6820538	0.93[ASN][1000 genomes]
rs6822299	0.92[ASN][1000 genomes]
rs6826771	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827229	0.93[ASN][1000 genomes]
rs6828369	0.92[ASN][1000 genomes]
rs6829621	0.85[ASN][1000 genomes]
rs6832943	0.92[ASN][1000 genomes]
rs6833582	0.92[ASN][1000 genomes]
rs6837133	0.81[ASN][1000 genomes]
rs6839312	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845478	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845907	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848475	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854861	0.85[ASN][1000 genomes]
rs6856785	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719159	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72719160	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72719163	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72719173	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719179	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72719180	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7435424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436840	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs763918	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7656276	0.90[ASN][1000 genomes]
rs7670439	0.90[ASN][1000 genomes]
rs7673827	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675127	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7680365	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7685075	0.85[ASN][1000 genomes]
rs7685461	0.85[ASN][1000 genomes]
rs7687417	0.90[ASN][1000 genomes]
rs7692813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7693583	0.85[ASN][1000 genomes]
rs7693817	0.85[ASN][1000 genomes]
rs9308169	0.92[ASN][1000 genomes]
rs9631769	0.85[ASN][1000 genomes]
rs9685571	0.86[ASN][1000 genomes]
rs9790396	0.85[ASN][1000 genomes]
rs9790822	0.85[ASN][1000 genomes]
rs985619	0.92[ASN][1000 genomes]
rs9992676	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs300938	SLC10A7	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144171600-144172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:144171600-144173600	Enhancers	Fetal Stomach	stomach
3	chr4:144171800-144172800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:144171800-144172800	Enhancers	Colon Smooth Muscle	Colon
5	chr4:144171800-144172800	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:144171800-144173000	Enhancers	NHLF	lung
7	chr4:144171800-144174400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:144171800-144174600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:144171800-144174800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:144172000-144172800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr4:144172000-144173600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:144172000-144173800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:144172000-144174800	Enhancers	HMEC	breast
14	chr4:144172200-144174800	Enhancers	NHEK	skin
15	chr4:144172400-144173000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:144172600-144172800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:144172600-144172800	Enhancers	Right Atrium	heart
18	chr4:144172600-144173600	Enhancers	Hela-S3	cervix
19	chr4:144172600-144174600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:144172600-144174800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:144172600-144176200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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