Variant report

Variant	rs12669769
Chromosome Location	chr7:11041141-11041142
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	chr7:11034938..11037740-chr7:11039775..11043561,3	K562	blood:
2	chr7:11035549..11039203-chr7:11040306..11043561,4	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10257220	0.95[ASN][1000 genomes]
rs10487898	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12666576	0.94[ASN][1000 genomes]
rs12669865	1.00[JPT][hapmap];0.85[AFR][1000 genomes]
rs12670220	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12671481	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12671644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12672069	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12672128	0.95[ASN][1000 genomes]
rs12674325	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16876772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16876779	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17149825	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17149830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17149834	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17149838	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17163803	0.90[ASN][1000 genomes]
rs17163854	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17163857	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17163872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17163880	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17163892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17163894	0.90[CHB][hapmap];0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17163895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17163897	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17163898	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17163903	0.95[ASN][1000 genomes]
rs17163914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17163915	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17163919	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17163921	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2301960	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2301961	1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2301962	0.95[ASN][1000 genomes]
rs28670953	0.97[ASN][1000 genomes]
rs3779409	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3779410	0.95[ASN][1000 genomes]
rs3801434	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3801439	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3801440	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3801443	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3801445	0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3801456	1.00[JPT][hapmap]
rs3815234	0.95[ASN][1000 genomes]
rs4348382	0.95[ASN][1000 genomes]
rs4398795	0.95[ASN][1000 genomes]
rs4521663	1.00[ASN][1000 genomes]
rs60680874	0.95[ASN][1000 genomes]
rs61011519	0.95[ASN][1000 genomes]
rs6950505	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6951535	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6956108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6970876	0.95[ASN][1000 genomes]
rs73678561	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11014600-11045400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr7:11014600-11092000	Weak transcription	Colonic Mucosa	Colon
3	chr7:11014800-11054200	Weak transcription	NHLF	lung
4	chr7:11014800-11075200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:11014800-11117400	Weak transcription	HSMMtube	muscle
6	chr7:11015000-11064000	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:11015200-11108200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:11016800-11057200	Weak transcription	Fetal Brain Male	brain
9	chr7:11017200-11076000	Weak transcription	HUVEC	blood vessel
10	chr7:11018600-11063800	Weak transcription	Brain Angular Gyrus	brain
11	chr7:11022800-11044800	Weak transcription	Hela-S3	cervix
12	chr7:11022800-11071000	Weak transcription	Right Ventricle	heart
13	chr7:11023000-11053600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:11023200-11076200	Weak transcription	NH-A	brain
15	chr7:11023600-11053600	Weak transcription	Fetal Kidney	kidney
16	chr7:11031600-11103800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:11033200-11053600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:11033400-11053600	Weak transcription	HSMM	muscle
19	chr7:11033800-11045600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:11033800-11053600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:11034200-11041400	Weak transcription	Fetal Lung	lung
22	chr7:11034400-11053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:11034800-11064200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:11035000-11047000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:11035200-11053600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:11035400-11046000	Weak transcription	Fetal Brain Female	brain
27	chr7:11035400-11054200	Weak transcription	Pancreas	Pancrea
28	chr7:11035400-11064000	Weak transcription	Brain Germinal Matrix	brain
29	chr7:11035600-11043400	Weak transcription	Fetal Thymus	thymus
30	chr7:11035600-11048000	Weak transcription	Gastric	stomach
31	chr7:11035800-11041600	Weak transcription	Fetal Stomach	stomach
32	chr7:11035800-11041800	Weak transcription	Fetal Intestine Small	intestine
33	chr7:11035800-11046000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:11035800-11046000	Weak transcription	Aorta	Aorta
35	chr7:11035800-11046000	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:11035800-11047800	Weak transcription	Ovary	ovary
37	chr7:11035800-11053400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:11035800-11053400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:11035800-11053600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:11035800-11054000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:11035800-11054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:11035800-11057200	Weak transcription	Spleen	Spleen
43	chr7:11035800-11063000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:11035800-11063800	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:11035800-11076000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:11035800-11092600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:11035800-11113000	Weak transcription	Esophagus	oesophagus
48	chr7:11035800-11113200	Weak transcription	Lung	lung
49	chr7:11035800-11123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:11036000-11044800	Weak transcription	A549	lung

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