Variant report

Variant	rs9491966
Chromosome Location	chr6:128810382-128810383
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	chr6:128808264..128811474-chr6:128816521..128819599,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34760929	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71568905	0.90[AFR][1000 genomes]
rs9482888	0.83[AMR][1000 genomes]
rs9491971	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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:73 , 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	chr6:128797400-128822000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:128799800-128811000	Weak transcription	Fetal Lung	lung
6	chr6:128799800-128812600	Weak transcription	Fetal Stomach	stomach
7	chr6:128800200-128810600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:128800200-128811600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:128800200-128812600	Weak transcription	Colonic Mucosa	Colon
10	chr6:128800200-128812800	Weak transcription	Aorta	Aorta
11	chr6:128800400-128811600	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:128800400-128811600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:128800400-128811600	Weak transcription	Right Ventricle	heart
14	chr6:128802000-128811400	Weak transcription	Right Atrium	heart
15	chr6:128802000-128812000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:128804000-128811400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:128804000-128811400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:128804000-128811600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:128804200-128811400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:128804200-128811400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:128804200-128811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:128804200-128811600	Weak transcription	Psoas Muscle	Psoas
23	chr6:128804200-128812200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:128804200-128812400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:128804400-128811400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:128805000-128812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:128805000-128812600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:128805200-128811600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:128805600-128811400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:128806400-128812200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:128806800-128810400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:128806800-128812600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:128807800-128812200	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:128807800-128812200	Enhancers	HMEC	breast
35	chr6:128808000-128811600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:128808000-128812600	Weak transcription	Brain Germinal Matrix	brain
37	chr6:128808200-128810600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:128808200-128812200	Enhancers	HUVEC	blood vessel
39	chr6:128808400-128811600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:128808400-128812800	Weak transcription	Thymus	Thymus
41	chr6:128808600-128811800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:128808600-128812000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:128808600-128812000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:128808600-128812200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:128808600-128812400	Weak transcription	Primary T cells from cord blood	blood
46	chr6:128808800-128811200	Weak transcription	Fetal Heart	heart
47	chr6:128808800-128811400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:128808800-128811600	Weak transcription	Ovary	ovary
49	chr6:128808800-128812200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:128808800-128812600	Weak transcription	Fetal Thymus	thymus

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