Variant report

Variant	rs4945977
Chromosome Location	chr6:114195134-114195135
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10499076	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11153452	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169507	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs352079	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4562174	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945504	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4945979	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945981	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7751759	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7763868	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9320472	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9374431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114181000-114200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:114183200-114196200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:114183600-114196400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:114183800-114196200	Weak transcription	NHLF	lung
5	chr6:114183800-114200200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:114183800-114200400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:114184000-114200200	Weak transcription	Fetal Kidney	kidney
8	chr6:114184200-114195800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:114184200-114196000	Weak transcription	HSMM	muscle
10	chr6:114184200-114196400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:114184400-114196200	Weak transcription	NH-A	brain
12	chr6:114192000-114195800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:114192000-114196200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:114193200-114195200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:114193400-114196200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:114194400-114202000	Weak transcription	Ovary	ovary
17	chr6:114194600-114196200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr6:114194600-114200400	Weak transcription	Fetal Lung	lung
19	chr6:114194600-114202000	Weak transcription	Lung	lung
20	chr6:114194800-114195200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:114194800-114196000	Weak transcription	NHDF-Ad	bronchial
22	chr6:114194800-114196400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:114194800-114199400	Weak transcription	HUVEC	blood vessel
24	chr6:114194800-114200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:114195000-114195400	Enhancers	Fetal Intestine Large	intestine
26	chr6:114195000-114195400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr6:114195000-114195400	Enhancers	Dnd41	blood
28	chr6:114195000-114195600	Weak transcription	A549	lung
29	chr6:114195000-114196000	Weak transcription	Osteobl	bone
30	chr6:114195000-114196200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:114195000-114196200	Enhancers	Duodenum Mucosa	Duodenum
32	chr6:114195000-114196200	Enhancers	Fetal Intestine Small	intestine
33	chr6:114195000-114196800	Enhancers	HepG2	liver
34	chr6:114195000-114200400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:114195000-114200400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:114195000-114200400	Weak transcription	Liver	Liver
37	chr6:114195000-114200400	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links