Variant report

Variant	rs11970026
Chromosome Location	chr6:121622715-121622716
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	chr6:121618290..121620090-chr6:121621929..121623645,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10499105	0.92[AFR][1000 genomes]
rs11964400	0.86[AFR][1000 genomes]
rs11968501	0.92[AFR][1000 genomes]
rs12526903	0.88[AFR][1000 genomes]
rs12527618	0.87[AFR][1000 genomes]
rs12529694	0.85[AFR][1000 genomes]
rs17083387	0.94[AFR][1000 genomes]
rs34349558	0.86[AFR][1000 genomes]
rs4466276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4483022	0.87[AFR][1000 genomes]
rs4543411	0.81[AFR][1000 genomes]
rs4585603	0.87[AFR][1000 genomes]
rs4946551	0.81[AFR][1000 genomes]
rs55642029	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59480217	0.90[AFR][1000 genomes]
rs6569194	0.94[AFR][1000 genomes]
rs6912500	0.81[AFR][1000 genomes]
rs6916773	0.86[AFR][1000 genomes]
rs6933489	0.92[AFR][1000 genomes]
rs6941332	0.94[AFR][1000 genomes]
rs73526655	0.86[AFR][1000 genomes]
rs73526665	0.88[AFR][1000 genomes]
rs7762181	0.81[AFR][1000 genomes]
rs9375017	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1017944	chr6:121600538-121644362	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121585600-121625000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:121586400-121655000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:121588400-121655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:121588800-121642000	Weak transcription	Left Ventricle	heart
5	chr6:121589000-121632800	Weak transcription	Fetal Lung	lung
6	chr6:121589000-121635200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:121589000-121637600	Weak transcription	Ovary	ovary
8	chr6:121589000-121654200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:121589200-121630000	Weak transcription	Fetal Intestine Large	intestine
10	chr6:121589200-121631800	Weak transcription	Fetal Intestine Small	intestine
11	chr6:121589200-121655000	Weak transcription	Fetal Stomach	stomach
12	chr6:121590200-121630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:121594200-121654800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:121601600-121635200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:121602600-121637800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:121603000-121632600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:121604000-121645200	Weak transcription	Fetal Kidney	kidney
18	chr6:121604400-121642000	Weak transcription	Primary B cells from cord blood	blood
19	chr6:121604800-121653000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:121606600-121655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:121611000-121623200	Weak transcription	Fetal Brain Male	brain
22	chr6:121611000-121630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:121611000-121640400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:121611200-121655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:121612600-121637600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:121612800-121624000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:121613200-121637600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:121613400-121631000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:121613400-121640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:121614000-121630600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:121614200-121631600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:121614200-121633200	Weak transcription	Dnd41	blood
33	chr6:121614200-121640400	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:121615600-121655000	Weak transcription	Pancreas	Pancrea
35	chr6:121616000-121630000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:121616200-121655000	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:121617200-121651600	Weak transcription	GM12878-XiMat	blood
38	chr6:121617800-121628600	Weak transcription	Primary T cells from cord blood	blood
39	chr6:121619000-121640400	Weak transcription	Brain Anterior Caudate	brain
40	chr6:121619200-121630800	Weak transcription	Osteobl	bone
41	chr6:121620200-121640400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:121622200-121654600	Weak transcription	Fetal Thymus	thymus
43	chr6:121622400-121622800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:121622400-121623600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:121622600-121655000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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