Variant report

Variant	rs7714310
Chromosome Location	chr5:52191959-52191960
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	chr5:52176416..52178314-chr5:52190502..52193136,2	K562	blood:
2	chr5:52190470..52192268-chr5:52193603..52195297,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16880415	0.93[AFR][1000 genomes]
rs16880427	0.93[AFR][1000 genomes]
rs57591764	1.00[AFR][1000 genomes]
rs59689197	1.00[AFR][1000 genomes]
rs73106343	0.93[AFR][1000 genomes]
rs73106347	0.93[AFR][1000 genomes]
rs73108322	0.86[AFR][1000 genomes]
rs73108325	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:52166800-52214800	Weak transcription	Spleen	Spleen
3	chr5:52174600-52210600	Weak transcription	Hela-S3	cervix
4	chr5:52181200-52214000	Weak transcription	Placenta	Placenta
5	chr5:52183600-52199000	Weak transcription	Colonic Mucosa	Colon
6	chr5:52188000-52192000	Enhancers	Brain Hippocampus Middle	brain
7	chr5:52188000-52193200	Enhancers	Fetal Lung	lung
8	chr5:52188000-52193600	Enhancers	NHLF	lung
9	chr5:52188200-52192000	Enhancers	Brain Cingulate Gyrus	brain
10	chr5:52188200-52193400	Enhancers	Osteobl	bone
11	chr5:52188400-52192000	Enhancers	Brain Anterior Caudate	brain
12	chr5:52188400-52192200	Enhancers	Rectal Smooth Muscle	rectum
13	chr5:52188400-52193000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:52188800-52218200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:52188800-52228200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:52189200-52193000	Weak transcription	Fetal Intestine Large	intestine
17	chr5:52189200-52193200	Enhancers	Adipose Nuclei	Adipose
18	chr5:52189200-52211000	Weak transcription	Fetal Intestine Small	intestine
19	chr5:52189400-52193200	Enhancers	HSMM	muscle
20	chr5:52189800-52210800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:52190000-52192200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:52190000-52197600	Weak transcription	Psoas Muscle	Psoas
23	chr5:52190200-52192600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:52190200-52193600	Enhancers	NHDF-Ad	bronchial
25	chr5:52190400-52192200	Enhancers	Small Intestine	intestine
26	chr5:52190400-52192400	Enhancers	Primary T cells from cord blood	blood
27	chr5:52190400-52193200	Enhancers	Fetal Thymus	thymus
28	chr5:52190600-52192800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:52191000-52192000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:52191000-52192000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:52191000-52192200	Enhancers	Fetal Muscle Leg	muscle
32	chr5:52191000-52192200	Enhancers	Right Atrium	heart
33	chr5:52191000-52193000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:52191400-52192000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:52191400-52192000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr5:52191400-52200200	Strong transcription	Liver	Liver
37	chr5:52191600-52192000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr5:52191600-52192000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:52191600-52192000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:52191600-52192000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr5:52191600-52192200	Genic enhancers	Aorta	Aorta
42	chr5:52191600-52192200	Enhancers	Right Ventricle	heart
43	chr5:52191600-52192200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:52191600-52192400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:52191600-52193200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:52191600-52218400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:52191800-52192000	Enhancers	Esophagus	oesophagus
48	chr5:52191800-52192000	Enhancers	Gastric	stomach
49	chr5:52191800-52192000	Enhancers	Lung	lung
50	chr5:52191800-52192000	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links