Variant report

Variant	rs300925
Chromosome Location	chr4:144184193-144184194
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	chr4:144153122..144155090-chr4:144182581..144184458,2	K562	blood:

Extended variants
information (count: 201 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:198)

rs_ID	r²[population]
rs10000911	1.00[ASW][hapmap];0.90[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10001113	0.92[ASN][1000 genomes]
rs10002867	0.92[ASN][1000 genomes]
rs10002888	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10003529	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10004364	0.83[ASN][1000 genomes]
rs10004598	0.84[ASN][1000 genomes]
rs10009906	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10010367	0.92[ASN][1000 genomes]
rs10011709	0.89[ASN][1000 genomes]
rs10012434	0.89[ASN][1000 genomes]
rs10012713	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10015190	0.89[ASN][1000 genomes]
rs10015751	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10019249	0.89[ASN][1000 genomes]
rs10026015	0.92[ASN][1000 genomes]
rs10028434	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10029373	0.92[ASN][1000 genomes]
rs10029419	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10031363	0.89[ASN][1000 genomes]
rs10033104	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10034769	0.84[ASN][1000 genomes]
rs10155434	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1039762	0.92[ASN][1000 genomes]
rs1039763	0.92[ASN][1000 genomes]
rs10434185	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10519678	0.93[ASN][1000 genomes]
rs10857405	0.84[ASN][1000 genomes]
rs11100770	0.84[ASN][1000 genomes]
rs11100771	0.84[ASN][1000 genomes]
rs11100772	0.81[ASN][1000 genomes]
rs11100778	0.88[ASN][1000 genomes]
rs11100779	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11100780	0.94[CHD][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs11100781	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11100782	0.91[ASN][1000 genomes]
rs11100783	0.92[ASN][1000 genomes]
rs11724872	0.94[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs11725565	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs11727441	0.92[ASN][1000 genomes]
rs11728962	0.86[ASN][1000 genomes]
rs11732484	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11737209	0.92[ASN][1000 genomes]
rs11933603	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs11940580	0.92[ASN][1000 genomes]
rs11947142	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12499485	0.91[ASN][1000 genomes]
rs12501994	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12505142	0.93[ASN][1000 genomes]
rs12506120	0.88[ASN][1000 genomes]
rs12640698	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12643013	0.82[CHD][hapmap]
rs12649219	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13102238	0.83[ASN][1000 genomes]
rs13106497	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs13113047	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13114280	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13116414	0.91[ASN][1000 genomes]
rs13116507	0.84[ASN][1000 genomes]
rs13118943	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13119330	0.93[ASN][1000 genomes]
rs13128884	0.92[ASN][1000 genomes]
rs13137565	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13138084	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13139457	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs13140643	0.84[ASN][1000 genomes]
rs13151561	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1440410	0.91[ASN][1000 genomes]
rs1440411	0.92[ASN][1000 genomes]
rs1440412	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1440414	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1440416	0.92[ASN][1000 genomes]
rs1440418	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1440419	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470130	0.94[ASN][1000 genomes]
rs1605581	0.92[ASN][1000 genomes]
rs2010767	0.93[ASN][1000 genomes]
rs2119269	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2165301	0.91[ASN][1000 genomes]
rs2165302	0.92[ASN][1000 genomes]
rs2323076	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2323077	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28470858	0.91[ASN][1000 genomes]
rs28592151	0.89[ASN][1000 genomes]
rs28649839	0.92[ASN][1000 genomes]
rs300894	0.86[CEU][hapmap]
rs300899	0.82[EUR][1000 genomes]
rs300903	0.81[EUR][1000 genomes]
rs300913	0.82[CEU][hapmap]
rs300914	0.82[CEU][hapmap]
rs300915	0.82[CEU][hapmap]
rs300917	0.82[CEU][hapmap]
rs300921	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300924	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300927	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300929	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300934	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300938	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300939	0.92[ASN][1000 genomes]
rs300940	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300941	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300943	0.86[CEU][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs300946	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs300947	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs300951	0.90[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs300953	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34168479	0.92[ASN][1000 genomes]
rs34342939	0.91[ASN][1000 genomes]
rs34664017	0.89[ASN][1000 genomes]
rs3910622	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4131029	0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs4132266	0.94[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4234886	0.94[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4234887	0.91[ASN][1000 genomes]
rs4285045	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4290853	0.93[ASN][1000 genomes]
rs4318600	0.84[ASN][1000 genomes]
rs4323054	0.84[ASN][1000 genomes]
rs4323055	0.84[ASN][1000 genomes]
rs4333135	0.84[ASN][1000 genomes]
rs4336176	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4407450	0.91[ASN][1000 genomes]
rs4413361	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4502634	0.84[ASN][1000 genomes]
rs4511955	0.86[ASN][1000 genomes]
rs4513514	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4561881	0.84[ASN][1000 genomes]
rs4566607	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4574353	0.91[ASN][1000 genomes]
rs4579067	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4582112	0.92[ASN][1000 genomes]
rs4626148	0.84[ASN][1000 genomes]
rs4637346	0.92[ASN][1000 genomes]
rs4690715	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4690771	0.84[ASN][1000 genomes]
rs4690775	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4690777	0.91[ASN][1000 genomes]
rs4690778	0.87[ASN][1000 genomes]
rs4690779	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4690780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4690781	0.93[ASN][1000 genomes]
rs4690783	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs534750	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57168887	0.91[ASN][1000 genomes]
rs587254	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs592349	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs632359	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537150	0.84[ASN][1000 genomes]
rs6537151	0.84[ASN][1000 genomes]
rs666542	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6812522	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6816223	0.88[ASN][1000 genomes]
rs6818149	0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6820340	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs6820538	0.92[ASN][1000 genomes]
rs6822299	0.93[ASN][1000 genomes]
rs6826771	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6827229	0.92[ASN][1000 genomes]
rs6828369	0.91[ASN][1000 genomes]
rs6829621	0.84[ASN][1000 genomes]
rs6832943	0.93[ASN][1000 genomes]
rs6833582	0.93[ASN][1000 genomes]
rs6837133	0.80[ASN][1000 genomes]
rs6839312	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6845478	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6845907	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6848475	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6854861	0.84[ASN][1000 genomes]
rs6856785	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72719159	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719160	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719163	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719173	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72719179	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719180	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7435424	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7436840	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs763918	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7656276	0.89[ASN][1000 genomes]
rs7670439	0.89[ASN][1000 genomes]
rs7673827	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7675127	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7680365	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7685075	0.84[ASN][1000 genomes]
rs7685461	0.84[ASN][1000 genomes]
rs7687417	0.89[ASN][1000 genomes]
rs7692813	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7693583	0.84[ASN][1000 genomes]
rs7693817	0.84[ASN][1000 genomes]
rs9308169	0.93[ASN][1000 genomes]
rs9631769	0.84[ASN][1000 genomes]
rs9685571	0.84[ASN][1000 genomes]
rs9790396	0.84[ASN][1000 genomes]
rs9790822	0.84[ASN][1000 genomes]
rs985619	0.91[ASN][1000 genomes]
rs9992676	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9996072	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9998017	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv4531	chr4:144174573-144192930	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv880177	chr4:144174773-144214082	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs300925	SLC10A7	cis	cerebellum	SCAN
rs300925	GAB1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144182800-144184800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:144183400-144184400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr4:144183800-144184600	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:144183800-144184800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:144184000-144184400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:144184000-144184400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:144184000-144184400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:144184000-144184400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:144184000-144184600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr4:144184000-144184600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:144184000-144184800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:144184000-144184800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:144184000-144184800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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