Variant report

Variant	rs35142414
Chromosome Location	chr6:37991368-37991369
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	chr6:37990598..37992933-chr6:37993341..37995757,2	MCF-7	breast:
2	chr6:37991053..37993262-chr6:37997611..38000343,2	K562	blood:

Extended variants
information (count: 176 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10947710	0.96[EUR][1000 genomes]
rs10947717	1.00[ASN][1000 genomes]
rs11544072	1.00[ASN][1000 genomes]
rs11750950	0.93[EUR][1000 genomes]
rs11751094	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11751706	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751937	1.00[ASN][1000 genomes]
rs11752567	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11752623	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752650	1.00[ASN][1000 genomes]
rs11752692	1.00[ASN][1000 genomes]
rs11752863	0.85[EUR][1000 genomes]
rs11753054	0.96[EUR][1000 genomes]
rs11753118	1.00[ASN][1000 genomes]
rs11753122	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753267	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753388	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753391	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11753408	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11753437	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11753563	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11753759	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11754248	1.00[ASN][1000 genomes]
rs11754590	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11754816	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11754980	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755439	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11755600	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11755721	1.00[ASN][1000 genomes]
rs11755894	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756030	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756626	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757072	0.85[EUR][1000 genomes]
rs11757143	0.81[EUR][1000 genomes]
rs11757323	0.96[EUR][1000 genomes]
rs11757359	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11757654	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11757980	1.00[ASN][1000 genomes]
rs11758035	1.00[ASN][1000 genomes]
rs11758540	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759205	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759486	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11759574	1.00[ASN][1000 genomes]
rs11759721	1.00[ASN][1000 genomes]
rs11759725	0.90[EUR][1000 genomes]
rs11759816	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11760121	1.00[ASN][1000 genomes]
rs12202872	1.00[ASN][1000 genomes]
rs12661480	0.93[EUR][1000 genomes]
rs12664900	0.85[EUR][1000 genomes]
rs1923280	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28740822	0.96[EUR][1000 genomes]
rs34370874	0.96[EUR][1000 genomes]
rs35248010	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4336442	1.00[ASN][1000 genomes]
rs55707043	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55731063	1.00[ASN][1000 genomes]
rs55743233	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55786703	0.93[EUR][1000 genomes]
rs55786741	0.97[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825770	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55836194	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55837436	1.00[ASN][1000 genomes]
rs55878533	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55902626	1.00[ASN][1000 genomes]
rs55972258	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55990078	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56021282	1.00[ASN][1000 genomes]
rs56030069	1.00[ASN][1000 genomes]
rs56073681	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56106114	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159928	1.00[ASN][1000 genomes]
rs56178553	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56206533	1.00[ASN][1000 genomes]
rs56229452	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56308246	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56341927	1.00[ASN][1000 genomes]
rs56348433	0.96[EUR][1000 genomes]
rs56366053	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56390138	0.96[EUR][1000 genomes]
rs56413211	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56914148	0.85[EUR][1000 genomes]
rs57040650	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57142729	0.85[EUR][1000 genomes]
rs57160603	0.94[EUR][1000 genomes]
rs57180729	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57269218	1.00[ASN][1000 genomes]
rs57564251	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57591988	0.82[EUR][1000 genomes]
rs57995712	0.96[EUR][1000 genomes]
rs58003999	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58332635	0.85[EUR][1000 genomes]
rs58418493	1.00[ASN][1000 genomes]
rs59450336	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59578279	0.85[EUR][1000 genomes]
rs59693994	1.00[ASN][1000 genomes]
rs59769374	0.96[EUR][1000 genomes]
rs59996041	0.90[EUR][1000 genomes]
rs60109083	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849820	1.00[ASN][1000 genomes]
rs73417491	1.00[ASN][1000 genomes]
rs73417502	1.00[ASN][1000 genomes]
rs73417963	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73417971	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73417972	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73417996	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73417997	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419414	1.00[ASN][1000 genomes]
rs73419417	1.00[ASN][1000 genomes]
rs73419418	1.00[ASN][1000 genomes]
rs73419422	1.00[ASN][1000 genomes]
rs73419436	1.00[ASN][1000 genomes]
rs73419447	1.00[ASN][1000 genomes]
rs73419451	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419457	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419461	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419465	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419475	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419487	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419907	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419916	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419919	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419927	0.85[EUR][1000 genomes]
rs73419930	0.81[EUR][1000 genomes]
rs73419938	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419941	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419944	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419945	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419946	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419947	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419949	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419955	0.85[EUR][1000 genomes]
rs73419959	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419960	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419963	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419971	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73419996	0.82[EUR][1000 genomes]
rs73421427	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421433	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421436	0.85[EUR][1000 genomes]
rs73421439	0.85[EUR][1000 genomes]
rs73421444	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421455	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421464	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421467	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421473	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421477	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421479	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421483	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421810	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421817	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421819	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421822	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421825	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421831	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421842	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421855	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421866	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421874	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421889	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73421902	1.00[ASN][1000 genomes]
rs73423525	1.00[ASN][1000 genomes]
rs752110	0.90[EUR][1000 genomes]
rs9369034	1.00[ASN][1000 genomes]
rs9462403	1.00[ASN][1000 genomes]
rs9470765	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470772	0.81[EUR][1000 genomes]
rs9470779	1.00[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv34450	chr6:37963308-38007241	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2763549	chr6:37985025-38014006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37963000-37995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:37983000-37994600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:37983400-37994600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:37985000-37995600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:37985000-38002400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:37985200-37991400	Weak transcription	GM12878-XiMat	blood
8	chr6:37985200-37995000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:37985200-37995400	Weak transcription	A549	lung
10	chr6:37985200-37995600	Weak transcription	Brain Angular Gyrus	brain
11	chr6:37985200-38001400	Weak transcription	Small Intestine	intestine
12	chr6:37985400-37992200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:37987000-37993600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:37988000-38001400	Weak transcription	Stomach Mucosa	stomach
15	chr6:37988400-37995600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:37989000-37991600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:37989200-37992600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:37989400-37995000	Weak transcription	Liver	Liver
19	chr6:37989600-37994600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:37989600-37995000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:37989800-37992200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:37989800-37994400	Weak transcription	Psoas Muscle	Psoas
23	chr6:37989800-37995200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:37989800-37995400	Weak transcription	Brain Substantia Nigra	brain
25	chr6:37989800-37995400	Weak transcription	Left Ventricle	heart
26	chr6:37989800-37995600	Weak transcription	Primary T cells from cord blood	blood
27	chr6:37990400-38000400	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:37990600-38005800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:37990800-37994600	Weak transcription	Colon Smooth Muscle	Colon

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