Variant report

Variant	rs5744625
Chromosome Location	chr5:74862342-74862343
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	chr5:74805960..74807609-chr5:74862131..74863821,2	K562	blood:

Variant related genes	Relation type
ENSG00000113163	Chromatin interaction
ENSG00000122008	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10515197	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12659791	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17562686	1.00[YRI][hapmap]
rs3733907	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3756558	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55727654	0.83[EUR][1000 genomes]
rs55926501	0.83[EUR][1000 genomes]
rs5744662	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744707	1.00[YRI][hapmap]
rs5744724	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv882205	chr5:74811497-74862921	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
2	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
3	chr5:74822800-74896000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:74826000-74862400	Weak transcription	Fetal Heart	heart
5	chr5:74831000-74862400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:74831200-74877200	Weak transcription	Fetal Kidney	kidney
7	chr5:74833200-74862600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
9	chr5:74834600-74862400	Weak transcription	Small Intestine	intestine
10	chr5:74837600-74874400	Weak transcription	Fetal Brain Male	brain
11	chr5:74839400-74897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:74840400-74862400	Weak transcription	Ovary	ovary
13	chr5:74841200-74899400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:74846200-74865400	Weak transcription	Colonic Mucosa	Colon
15	chr5:74849200-74862400	Weak transcription	HSMMtube	muscle
16	chr5:74850000-74862400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:74850000-74878000	Weak transcription	HepG2	liver
18	chr5:74850200-74862400	Weak transcription	NHDF-Ad	bronchial
19	chr5:74850200-74896200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:74850800-74865200	Weak transcription	Fetal Thymus	thymus
21	chr5:74851000-74862400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr5:74851200-74872600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:74853400-74867200	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:74853600-74862400	Weak transcription	HSMM	muscle
25	chr5:74853600-74865400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:74853800-74869400	Weak transcription	Liver	Liver
27	chr5:74854000-74863600	Weak transcription	Dnd41	blood
28	chr5:74854000-74865400	Weak transcription	Fetal Intestine Large	intestine
29	chr5:74854000-74883400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:74854600-74862600	Weak transcription	Fetal Lung	lung
31	chr5:74855600-74865400	Weak transcription	Aorta	Aorta
32	chr5:74855600-74872600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:74859400-74862400	Weak transcription	Adipose Nuclei	Adipose
34	chr5:74859600-74871000	Weak transcription	Brain Angular Gyrus	brain
35	chr5:74860400-74862400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:74860400-74863600	Weak transcription	Primary T cells from cord blood	blood
37	chr5:74860800-74862600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:74860800-74870400	Weak transcription	Brain Anterior Caudate	brain
39	chr5:74861000-74862400	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:74861000-74864000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr5:74861000-74871000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:74861200-74862400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:74861200-74862400	Enhancers	K562	blood
44	chr5:74861200-74862400	Enhancers	Osteobl	bone
45	chr5:74861200-74862600	Strong transcription	Primary B cells from cord blood	blood
46	chr5:74861200-74864400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr5:74861400-74862400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:74861400-74862400	Strong transcription	Fetal Intestine Small	intestine
49	chr5:74861400-74862400	ZNF genes & repeats	Fetal Stomach	stomach
50	chr5:74861400-74862400	Enhancers	HUVEC	blood vessel

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