Variant report

Variant	rs7068430
Chromosome Location	chr10:52274535-52274536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52273248..52274821-chr10:52291297..52292939,2	MCF-7	breast:
2	chr10:52272246..52274913-chr10:52277739..52279580,2	MCF-7	breast:
3	chr10:52272048..52276086-chr10:52381938..52384651,3	MCF-7	breast:
4	chr10:52271127..52273442-chr10:52273762..52275494,2	MCF-7	breast:
5	chr10:52271610..52273554-chr10:52274092..52276247,2	MCF-7	breast:
6	chr10:52260554..52263861-chr10:52272806..52275340,3	K562	blood:
7	chr10:52272629..52275165-chr10:52281578..52283752,2	K562	blood:

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10490963	0.89[CEU][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[ASN][1000 genomes]
rs10490964	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11005626	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11005959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12257419	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12262259	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1369860	0.89[CEU][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs17438825	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17440448	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17518471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17519121	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17721658	0.89[CEU][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.80[TSI][hapmap];0.91[ASN][1000 genomes]
rs17721694	0.86[CEU][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs17721713	1.00[ASW][hapmap];0.89[CEU][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.83[TSI][hapmap];0.91[ASN][1000 genomes]
rs17778152	0.91[ASN][1000 genomes]
rs1916568	0.89[CEU][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs1916569	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1916571	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060560	0.96[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2064759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2117961	0.82[ASN][1000 genomes]
rs2117962	0.91[ASN][1000 genomes]
rs2255387	0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs2255720	0.90[ASN][1000 genomes]
rs2255849	0.96[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2255853	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2255859	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs2574955	0.96[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2574956	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2574981	0.90[ASN][1000 genomes]
rs2688875	0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2688877	0.84[ASN][1000 genomes]
rs2688879	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2842102	0.90[ASN][1000 genomes]
rs2842105	0.90[ASN][1000 genomes]
rs2842106	0.90[ASN][1000 genomes]
rs2842107	0.96[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2842109	0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs34672995	0.89[CEU][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34928652	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3802537	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4935152	0.91[ASN][1000 genomes]
rs4935673	0.91[ASN][1000 genomes]
rs4935703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4935713	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4935729	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4935731	0.84[AMR][1000 genomes]
rs4935732	0.84[AMR][1000 genomes]
rs55773344	0.91[ASN][1000 genomes]
rs55861418	0.89[ASN][1000 genomes]
rs56078228	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56080689	0.91[ASN][1000 genomes]
rs56133398	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56225400	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56268559	0.91[ASN][1000 genomes]
rs56277433	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56403030	0.84[AMR][1000 genomes]
rs61559519	0.91[ASN][1000 genomes]
rs61741330	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61856761	0.91[ASN][1000 genomes]
rs61856763	0.91[ASN][1000 genomes]
rs61856778	0.91[ASN][1000 genomes]
rs61856782	0.91[ASN][1000 genomes]
rs61856787	0.93[ASN][1000 genomes]
rs61856788	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61856793	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61856794	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61856795	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61856828	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61856832	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61858062	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61858064	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858068	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61858069	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61858108	0.82[AMR][1000 genomes]
rs61858206	0.91[ASN][1000 genomes]
rs61858207	0.91[ASN][1000 genomes]
rs7067626	0.89[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7069115	0.91[ASN][1000 genomes]
rs7082805	0.91[ASN][1000 genomes]
rs7092753	0.96[ASN][1000 genomes]
rs7099450	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs72801752	0.86[ASN][1000 genomes]
rs72801754	0.91[ASN][1000 genomes]
rs72801768	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72801775	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72801776	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72801781	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7392702	0.91[ASN][1000 genomes]
rs7475420	0.85[ASN][1000 genomes]
rs7921632	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs884880	1.00[ASW][hapmap];0.89[CEU][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv895391	chr10:52260398-52291608	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv895392	chr10:52263910-52291608	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv467193	chr10:52265265-52289664	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv550855	chr10:52265265-52289664	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52262200-52287200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:52266800-52282400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:52267000-52282400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr10:52267600-52277800	Enhancers	Brain Anterior Caudate	brain
5	chr10:52268200-52282400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:52268200-52282600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr10:52268400-52282200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:52268800-52278800	Weak transcription	Primary B cells from cord blood	blood
9	chr10:52270000-52282400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr10:52270000-52282800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr10:52270200-52282600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:52271200-52274600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:52271200-52274600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:52271200-52283000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr10:52271600-52276800	Weak transcription	Fetal Lung	lung
16	chr10:52271600-52277400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:52271600-52300600	Weak transcription	Aorta	Aorta
18	chr10:52271800-52274800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:52271800-52280800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr10:52272200-52281000	Weak transcription	Fetal Intestine Large	intestine
21	chr10:52272400-52275600	Weak transcription	Fetal Heart	heart
22	chr10:52272400-52280000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:52272400-52280400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr10:52272400-52284600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr10:52272600-52302800	Weak transcription	Fetal Stomach	stomach
26	chr10:52272800-52274600	Weak transcription	Liver	Liver
27	chr10:52272800-52274600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:52272800-52274600	Weak transcription	Right Atrium	heart
29	chr10:52272800-52275000	Weak transcription	Psoas Muscle	Psoas
30	chr10:52272800-52275200	Weak transcription	Esophagus	oesophagus
31	chr10:52272800-52275800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:52272800-52276000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:52272800-52279000	Weak transcription	Fetal Intestine Small	intestine
34	chr10:52272800-52281200	Weak transcription	Ovary	ovary
35	chr10:52272800-52281400	Weak transcription	Placenta	Placenta
36	chr10:52272800-52281600	Weak transcription	HepG2	liver
37	chr10:52272800-52288200	Weak transcription	HSMMtube	muscle
38	chr10:52273000-52275000	Enhancers	HMEC	breast
39	chr10:52273000-52275200	Enhancers	NHEK	skin
40	chr10:52273000-52275800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr10:52273200-52274600	Weak transcription	Pancreas	Pancrea
42	chr10:52273200-52274800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:52273200-52275200	Weak transcription	Gastric	stomach
44	chr10:52273200-52278200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr10:52273200-52278600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr10:52273200-52279000	Weak transcription	Lung	lung
47	chr10:52273200-52281000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr10:52273200-52281600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:52273200-52282600	Weak transcription	Right Ventricle	heart
50	chr10:52273200-52285800	Weak transcription	K562	blood

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