Variant report

Variant	rs210930
Chromosome Location	chr6:11744834-11744835
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	chr6:11743683..11746205-chr6:11753336..11755527,2	K562	blood:
2	chr6:11743986..11745912-chr6:11747510..11751154,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs169791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172405	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2013368	0.94[CHB][hapmap]
rs2076184	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs210892	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs210901	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs210902	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs210906	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs210924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235398	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235399	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235400	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235401	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235402	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235403	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235405	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235407	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235409	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235413	0.94[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2235420	0.89[CHB][hapmap]
rs2254655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281126	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294417	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2294423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3734273	0.83[CHB][hapmap]
rs4713831	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6927223	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6933892	0.83[CHB][hapmap]
rs926364	0.89[CHB][hapmap]
rs932343	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs932344	0.83[CHB][hapmap]
rs9368864	0.81[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380504	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394268	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs9469986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
2	chr6:11725200-11748600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:11732400-11750400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:11732800-11750400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:11734600-11745000	Weak transcription	HSMMtube	muscle
6	chr6:11735600-11754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:11736200-11752400	Weak transcription	NHEK	skin
8	chr6:11736200-11754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:11736600-11750600	Weak transcription	Stomach Mucosa	stomach
10	chr6:11738600-11762000	Weak transcription	Gastric	stomach
11	chr6:11739000-11755000	Weak transcription	HMEC	breast
12	chr6:11739600-11751800	Weak transcription	HUVEC	blood vessel
13	chr6:11741600-11745400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr6:11742000-11755000	Weak transcription	HSMM	muscle
15	chr6:11743400-11745000	Weak transcription	Aorta	Aorta
16	chr6:11743600-11745400	Enhancers	Pancreas	Pancrea
17	chr6:11743800-11745000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:11743800-11745200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:11743800-11750200	Weak transcription	Small Intestine	intestine
20	chr6:11744200-11745600	Enhancers	Fetal Muscle Leg	muscle
21	chr6:11744400-11749000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:11744600-11745000	Enhancers	Placenta	Placenta
23	chr6:11744600-11745200	Enhancers	Fetal Thymus	thymus
24	chr6:11744600-11745200	Enhancers	Right Atrium	heart
25	chr6:11744600-11745400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr6:11744600-11745600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:11744600-11745800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:11744600-11745800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:11744600-11745800	Enhancers	Adipose Nuclei	Adipose
30	chr6:11744600-11745800	Enhancers	Fetal Intestine Large	intestine
31	chr6:11744600-11745800	Enhancers	NHDF-Ad	bronchial
32	chr6:11744800-11745000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:11744800-11745000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:11744800-11745000	Enhancers	Lung	lung
35	chr6:11744800-11745000	Enhancers	Spleen	Spleen
36	chr6:11744800-11745200	Enhancers	Fetal Intestine Small	intestine
37	chr6:11744800-11745200	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:11744800-11745400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:11744800-11745400	Enhancers	Brain Substantia Nigra	brain
40	chr6:11744800-11745400	Enhancers	Ovary	ovary
41	chr6:11744800-11745600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:11744800-11745600	Enhancers	Colon Smooth Muscle	Colon
43	chr6:11744800-11745600	Enhancers	Fetal Heart	heart
44	chr6:11744800-11745600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:11744800-11745800	Enhancers	Stomach Smooth Muscle	stomach
46	chr6:11744800-11754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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