Variant report

Variant	rs11964217
Chromosome Location	chr6:128805030-128805031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9491934	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128795400-128811600	Weak transcription	HSMMtube	muscle
2	chr6:128796000-128811400	Weak transcription	HSMM	muscle
3	chr6:128797200-128811600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:128797400-128808200	Weak transcription	NH-A	brain
5	chr6:128797400-128822000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:128797800-128808200	Weak transcription	NHEK	skin
7	chr6:128799800-128811000	Weak transcription	Fetal Lung	lung
8	chr6:128799800-128812600	Weak transcription	Fetal Stomach	stomach
9	chr6:128800200-128807800	Weak transcription	Primary T cells from cord blood	blood
10	chr6:128800200-128807800	Weak transcription	Left Ventricle	heart
11	chr6:128800200-128808400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:128800200-128808400	Weak transcription	Pancreas	Pancrea
13	chr6:128800200-128810600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:128800200-128811600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:128800200-128812600	Weak transcription	Colonic Mucosa	Colon
16	chr6:128800200-128812800	Weak transcription	Aorta	Aorta
17	chr6:128800400-128805400	Enhancers	Brain Anterior Caudate	brain
18	chr6:128800400-128808200	Weak transcription	Osteobl	bone
19	chr6:128800400-128811600	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:128800400-128811600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:128800400-128811600	Weak transcription	Right Ventricle	heart
22	chr6:128800600-128807600	Weak transcription	Fetal Intestine Small	intestine
23	chr6:128800800-128806600	Weak transcription	Small Intestine	intestine
24	chr6:128801400-128806600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:128801400-128808200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:128802000-128807800	Weak transcription	HMEC	breast
27	chr6:128802000-128808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:128802000-128808400	Weak transcription	Stomach Mucosa	stomach
29	chr6:128802000-128811400	Weak transcription	Right Atrium	heart
30	chr6:128802000-128812000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:128803400-128806600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:128803600-128805800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:128803600-128806800	Enhancers	Brain Substantia Nigra	brain
34	chr6:128804000-128807000	Enhancers	Brain Hippocampus Middle	brain
35	chr6:128804000-128808000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:128804000-128808200	Weak transcription	HepG2	liver
37	chr6:128804000-128811400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:128804000-128811400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:128804000-128811600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:128804200-128806400	Weak transcription	Brain Angular Gyrus	brain
41	chr6:128804200-128808200	Weak transcription	Ovary	ovary
42	chr6:128804200-128809400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:128804200-128811400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:128804200-128811400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:128804200-128811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:128804200-128811600	Weak transcription	Psoas Muscle	Psoas
47	chr6:128804200-128812200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:128804200-128812400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:128804400-128811400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:128804600-128805400	Enhancers	Brain Cingulate Gyrus	brain

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