Variant report

Variant	rs4712938
Chromosome Location	chr6:25449269-25449270
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	chr6:25448709..25450289-chr6:25450958..25453403,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1028885	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41271807	0.87[ASN][1000 genomes]
rs57541514	0.94[ASN][1000 genomes]
rs58657257	0.90[ASN][1000 genomes]
rs59284567	0.92[ASN][1000 genomes]
rs6900224	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs969645	0.90[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	nsv883487	chr6:25280119-25508868	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830612	chr6:25342408-25509758	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1850810	chr6:25405576-25462543	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25411000-25451800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:25418800-25462600	Weak transcription	Ovary	ovary
3	chr6:25433400-25472600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:25434200-25450200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:25436200-25481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:25438200-25472600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:25442000-25455600	Weak transcription	Aorta	Aorta
8	chr6:25442400-25449600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:25443200-25472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:25446400-25450000	Weak transcription	Fetal Brain Male	brain
11	chr6:25446600-25449400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:25446600-25460000	Weak transcription	Fetal Lung	lung
13	chr6:25446800-25449600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:25446800-25450200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:25446800-25450800	Enhancers	HMEC	breast
16	chr6:25446800-25451000	Enhancers	NHEK	skin
17	chr6:25446800-25451400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:25446800-25454200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:25446800-25454200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:25446800-25493600	Weak transcription	Left Ventricle	heart
21	chr6:25446800-25504400	Weak transcription	Primary B cells from cord blood	blood
22	chr6:25447000-25449600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr6:25447000-25450600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:25447000-25450800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:25447000-25450800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:25447000-25451600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:25447400-25452200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:25447400-25473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:25447600-25449600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:25447800-25449400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:25447800-25449400	Strong transcription	Fetal Intestine Small	intestine
32	chr6:25447800-25449800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:25447800-25449800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:25447800-25449800	Genic enhancers	Fetal Thymus	thymus
35	chr6:25447800-25450800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:25447800-25453800	Weak transcription	Primary T cells from cord blood	blood
37	chr6:25448000-25449400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:25448000-25449800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:25448000-25450200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:25448000-25450200	Weak transcription	Stomach Mucosa	stomach
41	chr6:25448000-25450800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr6:25448000-25451600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:25448200-25449400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:25448200-25449400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:25448200-25449400	Weak transcription	GM12878-XiMat	blood
46	chr6:25448200-25450000	Weak transcription	Adipose Nuclei	Adipose
47	chr6:25448200-25450000	Weak transcription	Placenta	Placenta
48	chr6:25448200-25450800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:25448200-25451600	Weak transcription	Right Atrium	heart
50	chr6:25448200-25472600	Weak transcription	Pancreas	Pancrea

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