Variant report

Variant	rs7745998
Chromosome Location	chr6:144647762-144647763
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	chr6:144647226..144649891-chr6:144650190..144651852,2	MCF-7	breast:
2	chr6:144646379..144648634-chr6:144659334..144661793,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11962764	0.91[JPT][hapmap]
rs12660531	1.00[GIH][hapmap]
rs12662696	0.93[JPT][hapmap]
rs12662872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12662914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12663605	1.00[GIH][hapmap]
rs12664304	0.93[JPT][hapmap]
rs1474630	0.93[JPT][hapmap]
rs17073571	0.86[JPT][hapmap]
rs17073578	0.93[JPT][hapmap]
rs17073580	0.86[JPT][hapmap]
rs17073596	0.93[JPT][hapmap]
rs17073598	1.00[GIH][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs17073602	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs17073610	0.93[JPT][hapmap]
rs17073623	0.93[JPT][hapmap]
rs17073629	0.80[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17073631	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17073678	0.93[JPT][hapmap]
rs2473151	0.83[CHD][hapmap]
rs35325795	0.84[AMR][1000 genomes]
rs59718967	0.98[ASN][1000 genomes]
rs59803839	0.87[ASN][1000 genomes]
rs60661533	0.90[ASN][1000 genomes]
rs60857439	0.92[ASN][1000 genomes]
rs6903169	0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6911171	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6914753	0.90[AMR][1000 genomes]
rs6915621	0.90[AMR][1000 genomes]
rs6916795	1.00[ASW][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];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6917261	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs6919115	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6922109	0.84[AMR][1000 genomes]
rs6922608	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs6924797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6927798	0.93[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6941296	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73588920	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73589002	0.98[ASN][1000 genomes]
rs73591113	0.98[ASN][1000 genomes]
rs73780508	0.81[ASN][1000 genomes]
rs7741466	0.80[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7751351	0.87[AMR][1000 genomes]
rs7768531	0.93[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9321968	0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9321969	0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9496925	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9496928	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9496930	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9496932	0.84[AMR][1000 genomes]
rs9496935	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs9496938	0.84[AMR][1000 genomes]
rs9496944	1.00[MEX][hapmap];0.95[AMR][1000 genomes]
rs9496948	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144616400-144648000	Weak transcription	NHEK	skin
2	chr6:144624400-144648000	Weak transcription	HMEC	breast
3	chr6:144630200-144648400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:144630600-144648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:144635000-144651000	Weak transcription	Small Intestine	intestine
6	chr6:144635600-144650800	Weak transcription	Aorta	Aorta
7	chr6:144636000-144656200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:144636600-144648000	Weak transcription	Brain Anterior Caudate	brain
9	chr6:144636600-144654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:144636800-144650800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:144636800-144654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:144636800-144656400	Weak transcription	Brain Substantia Nigra	brain
13	chr6:144637000-144651800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:144637200-144647800	Weak transcription	Left Ventricle	heart
15	chr6:144637200-144647800	Weak transcription	Right Atrium	heart
16	chr6:144637200-144648000	Weak transcription	Psoas Muscle	Psoas
17	chr6:144637400-144647800	Weak transcription	Fetal Stomach	stomach
18	chr6:144637400-144648400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:144637600-144647800	Weak transcription	Right Ventricle	heart
20	chr6:144639600-144660200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:144641200-144648000	Weak transcription	Lung	lung
22	chr6:144642200-144654800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:144642200-144655200	Weak transcription	Thymus	Thymus
24	chr6:144642200-144659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:144642600-144648000	Weak transcription	Fetal Lung	lung
26	chr6:144642600-144649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:144643200-144651600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:144643600-144648000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:144643600-144648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:144643600-144648000	Weak transcription	Gastric	stomach
31	chr6:144643600-144648000	Weak transcription	NHLF	lung
32	chr6:144643600-144648200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:144643600-144651200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:144643600-144652600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:144643600-144656400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:144643800-144647800	Weak transcription	Ovary	ovary
37	chr6:144643800-144648000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:144643800-144648000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:144643800-144652000	Weak transcription	HSMM	muscle
40	chr6:144643800-144663000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:144644000-144648400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:144644400-144647800	Weak transcription	HSMMtube	muscle
43	chr6:144644400-144648200	Weak transcription	Osteobl	bone
44	chr6:144644400-144652600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:144644400-144652600	Weak transcription	NHDF-Ad	bronchial
46	chr6:144645200-144648000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:144645200-144648000	Weak transcription	Fetal Kidney	kidney
48	chr6:144645400-144649200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:144645600-144649400	Genic enhancers	HepG2	liver
50	chr6:144646200-144651400	Enhancers	HUES48 Cell Line	embryonic stem cell

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