Variant report

Variant	rs2511721
Chromosome Location	chr8:103660364-103660365
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103576876..103579568-chr8:103660206..103661932,2	K562	blood:
2	chr8:103658481..103660482-chr8:103666853..103668422,2	K562	blood:
3	chr8:103611739..103615321-chr8:103653896..103661701,12	MCF-7	breast:
4	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
5	chr8:103660043..103660805-chr8:103823098..103823789,2	MCF-7	breast:
6	chr8:103425193..103428090-chr8:103658555..103660884,2	MCF-7	breast:
7	chr8:103612889..103613477-chr8:103659655..103660540,2	MCF-7	breast:
8	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
9	chr8:103595537..103599248-chr8:103658324..103661549,5	MCF-7	breast:
10	chr8:103603451..103607129-chr8:103658621..103661960,3	MCF-7	breast:
11	chr8:103660131..103660939-chr8:103823181..103823689,2	MCF-7	breast:
12	chr8:103423205..103425284-chr8:103659015..103660580,2	MCF-7	breast:
13	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
14	chr8:103659960..103661632-chr8:103784492..103786905,2	MCF-7	breast:
15	chr8:103639826..103643166-chr8:103658941..103661983,3	K562	blood:
16	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000104517	Chromatin interaction

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

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

rs_ID	r²[population]
rs1991933	0.88[EUR][1000 genomes]
rs2053127	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2436934	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2436935	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2436939	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2436941	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511715	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511716	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511717	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511718	0.94[MKK][hapmap]
rs2511720	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511723	0.80[EUR][1000 genomes]
rs2511725	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511726	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511727	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511728	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511729	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511730	1.00[YRI][hapmap]
rs2511752	1.00[JPT][hapmap]
rs919949	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103647000-103661600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:103647000-103662000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:103647000-103662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:103648200-103661800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:103649800-103662000	Weak transcription	Fetal Stomach	stomach
6	chr8:103654000-103662200	Weak transcription	Gastric	stomach
7	chr8:103654400-103662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:103654800-103661200	Weak transcription	HepG2	liver
9	chr8:103655200-103661800	Weak transcription	Brain Germinal Matrix	brain
10	chr8:103655800-103661000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:103656000-103662200	Weak transcription	Fetal Brain Female	brain
12	chr8:103656600-103662000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:103656800-103661800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:103656800-103663200	Weak transcription	Fetal Brain Male	brain
15	chr8:103657000-103662000	Weak transcription	Thymus	Thymus
16	chr8:103658000-103661800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:103658000-103662200	Weak transcription	Esophagus	oesophagus
18	chr8:103658000-103663200	Weak transcription	Fetal Heart	heart
19	chr8:103658200-103662000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:103658200-103662200	Weak transcription	Right Ventricle	heart
21	chr8:103658200-103662200	Weak transcription	Dnd41	blood
22	chr8:103658400-103660600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:103658400-103661800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:103658600-103660600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:103658600-103661600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:103658600-103661800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:103658600-103661800	Weak transcription	NHEK	skin
28	chr8:103658600-103662000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:103658800-103660800	Weak transcription	Hela-S3	cervix
30	chr8:103658800-103661200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:103658800-103661600	Weak transcription	Fetal Kidney	kidney
32	chr8:103658800-103661800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:103658800-103662000	Weak transcription	Small Intestine	intestine
34	chr8:103658800-103663200	Weak transcription	Stomach Mucosa	stomach
35	chr8:103658800-103663200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:103659000-103661800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:103659200-103660800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:103659200-103662800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:103659200-103663400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr8:103659400-103661400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:103659400-103662200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:103659400-103663800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:103659600-103660800	Strong transcription	Fetal Intestine Small	intestine
44	chr8:103659600-103661000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:103659600-103661200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:103659600-103662000	Weak transcription	Colonic Mucosa	Colon
47	chr8:103659600-103662000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr8:103659600-103662200	Strong transcription	Adipose Nuclei	Adipose
49	chr8:103659600-103663200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:103659600-103663400	Strong transcription	Primary monocytes fromperipheralblood	blood

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