Variant report

Variant	rs7678847
Chromosome Location	chr4:106987426-106987427
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	chr4:106969485..106971896-chr4:106985535..106988027,2	K562	blood:

Extended variants
information (count: 228 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:226)

rs_ID	r²[population]
rs10000428	0.95[CEU][hapmap]
rs10002288	0.98[ASN][1000 genomes]
rs10003024	0.95[CEU][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap]
rs10004611	0.95[CEU][hapmap]
rs10008428	0.95[CEU][hapmap]
rs10008773	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10025052	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10030019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10084928	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10516532	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10516533	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11097912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11097914	0.99[ASN][1000 genomes]
rs11097916	0.99[ASN][1000 genomes]
rs11097917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11097919	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11097924	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs11097925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11732251	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs11732791	0.91[CEU][hapmap];0.82[TSI][hapmap]
rs11931386	0.91[CEU][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap]
rs11932523	0.95[CEU][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs11942153	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12499891	0.99[ASN][1000 genomes]
rs12500775	0.91[ASN][1000 genomes]
rs12502764	0.94[ASN][1000 genomes]
rs12503753	0.96[ASN][1000 genomes]
rs12504704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12504721	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12505689	0.95[ASN][1000 genomes]
rs12506062	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12506658	0.99[ASN][1000 genomes]
rs12507429	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12507867	0.95[ASN][1000 genomes]
rs12507874	0.89[ASN][1000 genomes]
rs12508432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12508552	0.99[ASN][1000 genomes]
rs12509366	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12509640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12509865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12510058	0.94[ASN][1000 genomes]
rs12510966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12511305	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12512683	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12512877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12512903	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12512966	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12513317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12639678	0.95[ASN][1000 genomes]
rs12639869	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12641015	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12641037	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12642059	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12642227	0.99[ASN][1000 genomes]
rs12642691	0.96[CEU][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap]
rs12642900	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12643397	0.99[ASN][1000 genomes]
rs12644259	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12645255	0.91[ASN][1000 genomes]
rs12645271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12645698	0.90[ASN][1000 genomes]
rs12645743	0.89[ASN][1000 genomes]
rs12646263	0.96[ASN][1000 genomes]
rs12646485	0.99[ASN][1000 genomes]
rs12647078	0.99[ASN][1000 genomes]
rs12649709	0.94[ASN][1000 genomes]
rs12651360	0.94[ASN][1000 genomes]
rs13101612	0.96[CEU][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap]
rs13113845	0.95[CEU][hapmap]
rs13114479	0.95[CEU][hapmap];0.85[MKK][hapmap];0.84[TSI][hapmap]
rs13121614	0.96[CEU][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap]
rs13138528	0.96[CEU][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap]
rs17036613	0.92[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs17259572	0.98[ASN][1000 genomes]
rs17273093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17273445	0.99[ASN][1000 genomes]
rs17274017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17274248	0.94[ASN][1000 genomes]
rs17333287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17333732	0.94[ASN][1000 genomes]
rs17333879	0.91[ASN][1000 genomes]
rs17333899	0.91[ASN][1000 genomes]
rs1988695	0.94[ASN][1000 genomes]
rs2290607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs28391259	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28394440	0.83[EUR][1000 genomes]
rs28507027	0.99[ASN][1000 genomes]
rs28765420	0.96[ASN][1000 genomes]
rs28787305	0.99[ASN][1000 genomes]
rs28814088	0.93[ASN][1000 genomes]
rs28822186	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28845843	0.83[EUR][1000 genomes]
rs28866820	0.99[ASN][1000 genomes]
rs28868894	0.99[ASN][1000 genomes]
rs28875879	0.99[ASN][1000 genomes]
rs28897193	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34193646	0.94[ASN][1000 genomes]
rs34899289	0.94[ASN][1000 genomes]
rs34961213	0.94[ASN][1000 genomes]
rs35518913	0.99[ASN][1000 genomes]
rs3775090	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4306956	0.82[EUR][1000 genomes]
rs4323181	0.99[ASN][1000 genomes]
rs4337798	0.99[ASN][1000 genomes]
rs4337799	0.99[ASN][1000 genomes]
rs4339284	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4355394	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4364267	0.91[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4374692	0.91[CEU][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap]
rs4382109	0.96[CEU][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap]
rs4422480	0.99[ASN][1000 genomes]
rs4429790	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4458525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4466113	0.99[ASN][1000 genomes]
rs4470632	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4481295	0.89[ASN][1000 genomes]
rs4508971	0.96[CEU][hapmap];0.88[MKK][hapmap];0.84[TSI][hapmap]
rs4521418	0.98[ASN][1000 genomes]
rs4569824	0.96[CEU][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap]
rs4577583	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs4600995	0.96[CEU][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap]
rs55633564	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55634475	0.99[ASN][1000 genomes]
rs55710349	0.94[ASN][1000 genomes]
rs55833794	0.99[ASN][1000 genomes]
rs56009469	0.94[ASN][1000 genomes]
rs56135499	0.99[ASN][1000 genomes]
rs56222430	0.90[ASN][1000 genomes]
rs56231393	0.94[ASN][1000 genomes]
rs56260521	0.99[ASN][1000 genomes]
rs56329826	0.99[ASN][1000 genomes]
rs56333662	0.94[ASN][1000 genomes]
rs56341229	0.99[ASN][1000 genomes]
rs56775039	0.94[ASN][1000 genomes]
rs56833325	0.89[ASN][1000 genomes]
rs57246774	0.99[ASN][1000 genomes]
rs59784613	0.99[ASN][1000 genomes]
rs60538413	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61544154	0.94[ASN][1000 genomes]
rs62321365	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533237	0.83[EUR][1000 genomes]
rs6533240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6533243	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6533245	0.94[ASN][1000 genomes]
rs6533246	0.91[ASN][1000 genomes]
rs6810877	0.96[ASN][1000 genomes]
rs6815014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6816614	0.99[ASN][1000 genomes]
rs6816698	0.91[ASN][1000 genomes]
rs6818197	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6818626	0.99[ASN][1000 genomes]
rs6819081	0.96[CEU][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap]
rs6822692	0.99[ASN][1000 genomes]
rs6823347	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6824682	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6828362	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6829795	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6831665	0.91[ASN][1000 genomes]
rs6835216	0.83[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs6836198	0.96[CEU][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap]
rs6838283	0.91[ASN][1000 genomes]
rs6842919	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6843331	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6843870	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6844324	0.99[ASN][1000 genomes]
rs6846579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6852388	0.83[EUR][1000 genomes]
rs72489522	0.99[ASN][1000 genomes]
rs72677306	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72876575	0.94[ASN][1000 genomes]
rs72876590	0.94[ASN][1000 genomes]
rs72876592	0.94[ASN][1000 genomes]
rs72876594	0.94[ASN][1000 genomes]
rs72878537	0.91[ASN][1000 genomes]
rs72893620	0.94[ASN][1000 genomes]
rs7340989	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7438546	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs7655054	0.99[ASN][1000 genomes]
rs7657962	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7657975	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7658011	0.98[ASN][1000 genomes]
rs7658701	0.99[ASN][1000 genomes]
rs7661499	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7661565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7662219	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7662291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7662395	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7662592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7662806	0.99[ASN][1000 genomes]
rs7662836	0.99[ASN][1000 genomes]
rs7663321	0.95[CEU][hapmap];0.85[YRI][hapmap]
rs7664032	0.99[ASN][1000 genomes]
rs7664188	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7665946	0.94[ASN][1000 genomes]
rs7667719	0.94[ASN][1000 genomes]
rs7668276	0.96[CEU][hapmap]
rs7668477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7669087	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7669212	0.94[ASN][1000 genomes]
rs7671145	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7673101	0.96[CEU][hapmap]
rs7673949	0.94[ASN][1000 genomes]
rs7674381	0.88[ASN][1000 genomes]
rs7674466	0.93[ASN][1000 genomes]
rs7674931	0.94[ASN][1000 genomes]
rs7675728	0.95[ASN][1000 genomes]
rs7677248	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7678229	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs7681257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7682646	0.96[CEU][hapmap]
rs7687657	0.88[AFR][1000 genomes]
rs7688008	0.84[ASN][1000 genomes]
rs7688411	0.94[ASN][1000 genomes]
rs7689298	0.83[EUR][1000 genomes]
rs7692069	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7692652	0.96[CEU][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap]
rs7693333	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs7693448	0.91[CEU][hapmap];0.83[MKK][hapmap];0.80[TSI][hapmap]
rs7697996	0.94[ASN][1000 genomes]
rs7698386	0.98[ASN][1000 genomes]
rs7699768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9684658	0.94[ASN][1000 genomes]
rs9685018	0.96[ASN][1000 genomes]
rs9685464	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9991091	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9996093	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414280	chr4:106987397-107017178	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv3419151	chr4:106987397-107020894	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7678847	AIMP1	cis	lymphoblastoid	seeQTL
rs7678847	TBCK	cis	lymphoblastoid	seeQTL
rs7678847	TBCK	cis	parietal	SCAN
rs7678847	SCYE1	Cis_1M	lymphoblastoid	RTeQTL
rs7678847	ELOVL6	cis	cerebellum	SCAN
rs7678847	MGC16169	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106967800-106994600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:106972400-106997000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:106983800-106994800	Weak transcription	Fetal Kidney	kidney
4	chr4:106983800-106995000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:106984000-106995000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:106984000-107010200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:106984600-106998200	Weak transcription	Fetal Heart	heart
8	chr4:106985000-107011400	Weak transcription	HepG2	liver
9	chr4:106986800-107002400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:106987000-106995800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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