Variant report

Variant	rs6714330
Chromosome Location	chr2:99414792-99414793
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99412895..99415398-chr2:99415733..99417676,2	MCF-7	breast:
2	chr2:99402708..99406014-chr2:99411806..99414792,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10174531	0.92[ASN][1000 genomes]
rs10175560	0.89[AMR][1000 genomes]
rs10182043	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202643	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123754	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900176	0.89[AMR][1000 genomes]
rs12712034	0.82[AMR][1000 genomes]
rs12712037	0.87[AMR][1000 genomes]
rs12990579	0.87[AMR][1000 genomes]
rs2276604	0.81[EUR][1000 genomes]
rs2280142	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542837	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753465	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753879	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755640	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73962464	0.91[ASN][1000 genomes]
rs7560696	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7565614	0.89[AMR][1000 genomes]
rs7565736	0.89[AMR][1000 genomes]
rs885115	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99404400-99417200	Weak transcription	Stomach Mucosa	stomach
2	chr2:99406000-99421800	Weak transcription	Spleen	Spleen
3	chr2:99407600-99415800	Weak transcription	Left Ventricle	heart
4	chr2:99407600-99423800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:99409000-99415600	Weak transcription	Colonic Mucosa	Colon
6	chr2:99409200-99425800	Weak transcription	Small Intestine	intestine
7	chr2:99409600-99426400	Weak transcription	Esophagus	oesophagus
8	chr2:99410600-99421600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:99411000-99415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:99411200-99415200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:99411200-99415400	Weak transcription	Brain Angular Gyrus	brain
12	chr2:99411200-99415600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:99411200-99421200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:99411200-99421200	Weak transcription	Right Atrium	heart
15	chr2:99411200-99422200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:99411400-99415400	Weak transcription	HMEC	breast
17	chr2:99412800-99421800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:99413000-99415600	Enhancers	HepG2	liver
19	chr2:99413000-99417400	Weak transcription	Right Ventricle	heart
20	chr2:99413200-99416600	Weak transcription	Liver	Liver
21	chr2:99413600-99415000	Weak transcription	HUVEC	blood vessel
22	chr2:99413800-99415600	Weak transcription	Pancreas	Pancrea
23	chr2:99413800-99416200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:99413800-99417200	Weak transcription	Thymus	Thymus
25	chr2:99413800-99422000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:99413800-99423800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:99414000-99415200	Weak transcription	Lung	lung
28	chr2:99414000-99415400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:99414000-99415600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:99414000-99415600	Weak transcription	Gastric	stomach
31	chr2:99414000-99418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:99414000-99418400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:99414000-99426600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:99414200-99415200	Weak transcription	Fetal Thymus	thymus
35	chr2:99414200-99415600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:99414200-99422200	Weak transcription	Fetal Intestine Large	intestine
37	chr2:99414600-99415000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:99414600-99415600	Weak transcription	Brain Anterior Caudate	brain
39	chr2:99414600-99422000	Weak transcription	Fetal Brain Male	brain

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