Variant report

Variant	rs9375564
Chromosome Location	chr6:128717972-128717973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10428737	0.91[AFR][1000 genomes]
rs12110431	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17055854	0.90[AFR][1000 genomes]
rs1891146	0.89[AFR][1000 genomes]
rs1891147	0.89[AFR][1000 genomes]
rs1891148	0.89[AFR][1000 genomes]
rs58395468	0.91[AFR][1000 genomes]
rs66843622	0.90[AFR][1000 genomes]
rs722796	0.94[AFR][1000 genomes]
rs72974039	0.99[EUR][1000 genomes]
rs72974041	0.98[EUR][1000 genomes]
rs7743537	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7748155	0.85[EUR][1000 genomes]
rs7774606	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs946424	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128679600-128732000	Weak transcription	Left Ventricle	heart
2	chr6:128688800-128738800	Weak transcription	Psoas Muscle	Psoas
3	chr6:128691600-128730400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:128697800-128733400	Weak transcription	HSMM	muscle
5	chr6:128698800-128724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:128698800-128743200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:128699600-128720400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:128699600-128724000	Weak transcription	NHEK	skin
9	chr6:128701800-128725400	Weak transcription	Ovary	ovary
10	chr6:128703200-128743000	Weak transcription	Pancreas	Pancrea
11	chr6:128706800-128731800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:128707800-128720800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:128710200-128729800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:128710200-128739800	Weak transcription	Fetal Intestine Large	intestine
15	chr6:128711200-128726800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:128711600-128721800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:128711800-128719800	Weak transcription	HSMMtube	muscle
18	chr6:128711800-128722000	Weak transcription	Osteobl	bone
19	chr6:128712000-128731800	Weak transcription	HUVEC	blood vessel
20	chr6:128712000-128733800	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:128712800-128733600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:128714000-128727600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:128714800-128728000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:128715000-128718400	Strong transcription	HepG2	liver
25	chr6:128715200-128721800	Weak transcription	NHDF-Ad	bronchial
26	chr6:128715200-128725000	Weak transcription	HMEC	breast
27	chr6:128715600-128723800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:128715600-128726800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:128715600-128733600	Weak transcription	Brain Anterior Caudate	brain
30	chr6:128715600-128743000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:128715800-128721400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:128715800-128725400	Weak transcription	Fetal Lung	lung
33	chr6:128715800-128736200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:128716200-128720200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:128716400-128718600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:128716400-128719400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:128716600-128736000	Weak transcription	Brain Substantia Nigra	brain
38	chr6:128716600-128739400	Weak transcription	Aorta	Aorta
39	chr6:128716800-128719200	Weak transcription	Colonic Mucosa	Colon
40	chr6:128716800-128727600	Weak transcription	Liver	Liver
41	chr6:128716800-128738400	Weak transcription	Fetal Heart	heart
42	chr6:128717000-128727600	Weak transcription	Fetal Kidney	kidney
43	chr6:128717200-128719000	Weak transcription	Stomach Mucosa	stomach
44	chr6:128717200-128720200	Weak transcription	Fetal Stomach	stomach
45	chr6:128717200-128720600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:128717200-128721400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:128717200-128739600	Weak transcription	NH-A	brain
48	chr6:128717400-128720000	Weak transcription	Thymus	Thymus
49	chr6:128717800-128718400	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr6:128717800-128718800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links