Variant report

Variant	rs4314381
Chromosome Location	chr5:75704257-75704258
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	chr5:75697502..75699104-chr5:75703353..75706054,2	K562	blood:

Variant related genes	Relation type
ENSG00000145703	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10942768	0.83[EUR][1000 genomes]
rs10942770	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13157262	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183341	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34483409	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4382145	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496694	0.81[EUR][1000 genomes]
rs6874833	0.83[EUR][1000 genomes]
rs6888419	0.82[EUR][1000 genomes]
rs6888428	0.82[EUR][1000 genomes]
rs9293683	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293684	0.89[AMR][1000 genomes];0.94[EUR][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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75700200-75704600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr5:75700600-75707400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:75700800-75707200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:75701000-75706200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:75701000-75721600	Weak transcription	Fetal Stomach	stomach
6	chr5:75701200-75704400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr5:75701200-75704400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:75701200-75706800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:75701400-75705400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:75701600-75707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:75701600-75707200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:75701600-75713000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:75701800-75704400	Enhancers	Stomach Mucosa	stomach
14	chr5:75701800-75705800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:75701800-75706600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:75701800-75707000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:75702000-75704800	Enhancers	Placenta	Placenta
18	chr5:75702000-75706400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr5:75702000-75707800	Enhancers	HepG2	liver
20	chr5:75702200-75704400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:75702200-75705400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:75702200-75707800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr5:75702400-75705400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr5:75702600-75704400	Enhancers	Liver	Liver
25	chr5:75702600-75706200	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:75702600-75707200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:75702800-75704400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr5:75702800-75704400	Enhancers	Pancreas	Pancrea
29	chr5:75703000-75731800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:75703200-75704400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:75703200-75704400	Weak transcription	Adipose Nuclei	Adipose
32	chr5:75703200-75706800	Weak transcription	Gastric	stomach
33	chr5:75703200-75717800	Weak transcription	Small Intestine	intestine
34	chr5:75703400-75704400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:75703400-75705600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:75703400-75715600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:75703400-75718000	Weak transcription	Primary T cells from cord blood	blood
38	chr5:75703600-75704400	Enhancers	GM12878-XiMat	blood
39	chr5:75703600-75705600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:75703600-75747000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:75703800-75709000	Weak transcription	Primary B cells from cord blood	blood
42	chr5:75703800-75709400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:75704200-75704600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:75704200-75704600	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr5:75704200-75705000	Enhancers	Sigmoid Colon	Sigmoid Colon

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