Variant report

Variant	rs60191671
Chromosome Location	chr4:95412197-95412198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95410422..95412856-chr4:95417463..95420295,3	K562	blood:
2	chr4:95410894..95412741-chr4:95425809..95427344,2	K562	blood:
3	chr4:95406401..95409166-chr4:95410541..95413681,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10003483	0.82[EUR][1000 genomes]
rs10033876	0.87[EUR][1000 genomes]
rs10440326	0.93[EUR][1000 genomes]
rs10516951	1.00[ASN][1000 genomes]
rs28445841	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28491414	0.93[EUR][1000 genomes]
rs62319387	0.98[EUR][1000 genomes]
rs62319388	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319389	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319391	0.98[ASN][1000 genomes]
rs62321991	0.93[EUR][1000 genomes]
rs6843496	0.82[EUR][1000 genomes]
rs9996560	0.91[EUR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:95396600-95419000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:95398400-95428400	Weak transcription	Small Intestine	intestine
7	chr4:95400400-95415200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:95400800-95440000	Weak transcription	Lung	lung
9	chr4:95401800-95420800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:95402000-95416800	Weak transcription	Pancreas	Pancrea
11	chr4:95402200-95412200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:95402200-95412200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:95403000-95416600	Weak transcription	Left Ventricle	heart
14	chr4:95403800-95417800	Weak transcription	HepG2	liver
15	chr4:95404000-95415000	Weak transcription	Fetal Intestine Small	intestine
16	chr4:95404400-95412200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:95405000-95429000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:95406000-95419800	Weak transcription	GM12878-XiMat	blood
19	chr4:95407200-95428000	Weak transcription	Placenta	Placenta
20	chr4:95408000-95412200	Weak transcription	Right Ventricle	heart
21	chr4:95408000-95412600	Weak transcription	Stomach Mucosa	stomach
22	chr4:95408000-95428000	Weak transcription	K562	blood
23	chr4:95408200-95422000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:95409000-95412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:95409000-95422000	Weak transcription	Ovary	ovary
26	chr4:95409400-95412200	Enhancers	HUVEC	blood vessel
27	chr4:95409400-95419000	Weak transcription	Aorta	Aorta
28	chr4:95409800-95412200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:95409800-95412200	Enhancers	Osteobl	bone
30	chr4:95410000-95412200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:95410000-95412400	Enhancers	NHLF	lung
32	chr4:95410000-95412600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:95410000-95412600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:95410200-95412600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:95410200-95415000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:95410200-95415000	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:95410200-95416000	Weak transcription	Fetal Intestine Large	intestine
38	chr4:95410200-95422000	Weak transcription	Right Atrium	heart
39	chr4:95410400-95415200	Weak transcription	Psoas Muscle	Psoas
40	chr4:95410600-95412200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:95410600-95412200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:95410600-95412400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:95410600-95412400	Weak transcription	HSMMtube	muscle
44	chr4:95410600-95412600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:95410600-95413600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:95410600-95413600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:95410600-95415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:95411000-95412200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:95411000-95427800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:95411200-95412200	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links