Variant report

Variant	rs2347600
Chromosome Location	chr4:111010051-111010052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111008440..111011561-chr4:111115460..111119101,3	K562	blood:
2	chr4:111008615..111010206-chr4:111112826..111114472,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10005776	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10024683	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1003908	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11731407	0.95[EUR][1000 genomes]
rs2005701	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2040710	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2347601	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2347602	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28694077	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28706838	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712862	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28784911	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34392886	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698807	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6858635	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6858695	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2453248	chr4:111010052-111010052	Enhancers Weak transcription	Chromatin interactive region	n/a	n/a	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
2	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:111004600-111026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
5	chr4:111006000-111010200	Enhancers	Small Intestine	intestine
6	chr4:111006000-111011400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:111006000-111013200	Enhancers	Dnd41	blood
8	chr4:111006000-111014000	Enhancers	HMEC	breast
9	chr4:111006200-111012200	Enhancers	NHEK	skin
10	chr4:111006200-111012400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:111006200-111012400	Enhancers	Osteobl	bone
12	chr4:111006200-111012600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:111006400-111010600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:111006400-111013000	Weak transcription	Fetal Kidney	kidney
15	chr4:111006600-111012200	Enhancers	NHDF-Ad	bronchial
16	chr4:111006600-111026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:111006800-111012600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:111006800-111014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:111006800-111025800	Weak transcription	Liver	Liver
20	chr4:111007000-111010200	Enhancers	Brain Germinal Matrix	brain
21	chr4:111007000-111011600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:111007400-111010400	Enhancers	NH-A	brain
23	chr4:111007800-111011000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:111008000-111010200	Enhancers	Brain Angular Gyrus	brain
25	chr4:111008000-111011000	Enhancers	HSMMtube	muscle
26	chr4:111008200-111010800	Enhancers	HSMM	muscle
27	chr4:111008400-111010200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:111008400-111011000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:111008400-111011200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr4:111008400-111012200	Weak transcription	Stomach Mucosa	stomach
31	chr4:111008400-111026000	Weak transcription	Fetal Brain Female	brain
32	chr4:111008600-111011600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:111009000-111010600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:111009000-111011400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:111009000-111011400	Weak transcription	Hela-S3	cervix
36	chr4:111009000-111011800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:111009200-111011000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:111009200-111011000	Enhancers	Primary hematopoietic stem cells	blood
39	chr4:111009200-111011000	Enhancers	Fetal Thymus	thymus
40	chr4:111009200-111011400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr4:111009200-111011800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:111009200-111011800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:111009200-111012400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:111009400-111010600	Enhancers	K562	blood
45	chr4:111009400-111011400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:111009400-111012200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:111009400-111013600	Weak transcription	Brain Anterior Caudate	brain
48	chr4:111009600-111010800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr4:111009600-111011000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr4:111009600-111011000	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links