Variant report

Variant	rs3001003
Chromosome Location	chr6:53682419-53682420
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	chr6:53681224..53682761-chr6:53685337..53687008,2	K562	blood:
2	chr6:53678291..53681070-chr6:53681168..53683223,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs13197492	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3000998	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3001002	0.85[ASN][1000 genomes]
rs3003489	0.85[ASN][1000 genomes]
rs3003491	0.85[ASN][1000 genomes]
rs3003493	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3003496	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3003497	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236113	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4265033	0.85[ASN][1000 genomes]
rs4269375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4276503	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4342426	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4351263	0.85[ASN][1000 genomes]
rs4382260	0.85[ASN][1000 genomes]
rs4398733	0.85[ASN][1000 genomes]
rs4475321	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4484515	0.85[ASN][1000 genomes]
rs4587161	0.87[EUR][1000 genomes]
rs4591854	0.85[ASN][1000 genomes]
rs4712048	0.85[ASN][1000 genomes]
rs4712049	0.85[ASN][1000 genomes]
rs4715425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715426	0.85[ASN][1000 genomes]
rs5001609	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6458958	0.85[ASN][1000 genomes]
rs6458959	0.85[ASN][1000 genomes]
rs6458960	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458961	0.85[ASN][1000 genomes]
rs6458962	0.85[ASN][1000 genomes]
rs6458966	0.85[ASN][1000 genomes]
rs6458970	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6650996	0.85[ASN][1000 genomes]
rs6900929	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6920743	0.85[ASN][1000 genomes]
rs6934444	0.85[EUR][1000 genomes]
rs7762883	0.85[ASN][1000 genomes]
rs7763147	0.85[ASN][1000 genomes]
rs7767443	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9349686	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9357774	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9357775	0.83[EUR][1000 genomes]
rs9367542	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370236	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9382239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53661400-53688200	Weak transcription	Right Ventricle	heart
2	chr6:53668800-53683800	Weak transcription	Ovary	ovary
3	chr6:53670200-53686400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:53670800-53693200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:53671000-53683600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:53673400-53687200	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:53673600-53682800	Weak transcription	Dnd41	blood
8	chr6:53676200-53683600	Weak transcription	Left Ventricle	heart
9	chr6:53676200-53697800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:53676800-53686800	Weak transcription	Right Atrium	heart
11	chr6:53676800-53687200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:53678000-53683600	Weak transcription	HMEC	breast
13	chr6:53678400-53683600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:53678600-53692200	Weak transcription	Esophagus	oesophagus
15	chr6:53679400-53683200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:53679400-53685200	Weak transcription	Gastric	stomach
17	chr6:53680000-53683000	Enhancers	Rectal Smooth Muscle	rectum
18	chr6:53680200-53682600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:53680400-53683600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:53680400-53683600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:53680400-53683600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:53680400-53685800	Weak transcription	Brain Angular Gyrus	brain
23	chr6:53680400-53690000	Weak transcription	Fetal Intestine Small	intestine
24	chr6:53680400-53690200	Weak transcription	Fetal Thymus	thymus
25	chr6:53680400-53691800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:53680400-53692400	Weak transcription	Pancreas	Pancrea
27	chr6:53680400-53721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:53680600-53682800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:53680600-53683600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:53680600-53683600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:53680600-53684000	Weak transcription	Brain Anterior Caudate	brain
32	chr6:53680600-53684800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr6:53680600-53687000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:53680600-53689400	Weak transcription	Fetal Intestine Large	intestine
35	chr6:53680600-53694400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:53680800-53682600	Enhancers	Hela-S3	cervix
37	chr6:53680800-53687200	Weak transcription	Fetal Kidney	kidney
38	chr6:53680800-53689600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:53681000-53687200	Weak transcription	Aorta	Aorta
40	chr6:53681200-53683600	Weak transcription	Brain Substantia Nigra	brain
41	chr6:53681200-53685000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr6:53681200-53689800	Weak transcription	Osteobl	bone
43	chr6:53681400-53683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:53681400-53683600	Weak transcription	NHEK	skin
45	chr6:53681400-53683800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:53681400-53686800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:53681600-53683600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:53682000-53683400	Weak transcription	Colon Smooth Muscle	Colon
49	chr6:53682200-53687000	Weak transcription	Fetal Brain Female	brain
50	chr6:53682400-53682600	Enhancers	Rectal Mucosa Donor 31	rectum

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