Variant report

Variant	rs2511729
Chromosome Location	chr8:103673588-103673589
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103672477..103675226-chr8:103793415..103795051,2	MCF-7	breast:
2	chr8:103672071..103674387-chr8:103675400..103678194,2	K562	blood:
3	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
4	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
5	chr8:103672172..103673821-chr8:103821018..103822916,2	K562	blood:
6	chr8:103672001..103675090-chr8:103685328..103688454,3	K562	blood:
7	chr8:103673572..103675121-chr8:103706478..103708359,2	K562	blood:
8	chr8:103672018..103673821-chr8:103819669..103822518,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1991933	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053127	0.92[EUR][1000 genomes]
rs2436934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436939	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436941	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511715	1.00[EUR][1000 genomes]
rs2511716	1.00[EUR][1000 genomes]
rs2511717	1.00[EUR][1000 genomes]
rs2511720	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2511721	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511723	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511725	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511726	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511727	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511728	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919949	0.92[EUR][1000 genomes];1.00[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	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103669400-103674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:103669800-103674400	Enhancers	Primary T cells from cord blood	blood
3	chr8:103670000-103674400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:103670000-103674400	Weak transcription	Psoas Muscle	Psoas
5	chr8:103670000-103674600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr8:103670200-103674400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:103670600-103674400	Weak transcription	Liver	Liver
8	chr8:103670600-103674400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:103670600-103674600	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:103670600-103674600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:103670600-103674600	Weak transcription	Brain Angular Gyrus	brain
12	chr8:103670600-103675200	Weak transcription	Gastric	stomach
13	chr8:103670800-103674400	Weak transcription	Stomach Mucosa	stomach
14	chr8:103670800-103674600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:103670800-103674600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:103670800-103674600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:103670800-103674800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:103670800-103675000	Weak transcription	Brain Substantia Nigra	brain
19	chr8:103670800-103675000	Weak transcription	Fetal Intestine Large	intestine
20	chr8:103670800-103675000	Weak transcription	NH-A	brain
21	chr8:103670800-103675200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:103670800-103678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:103671000-103673600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:103671000-103673600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:103671000-103673800	Weak transcription	Right Atrium	heart
26	chr8:103671000-103674000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:103671000-103674000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:103671000-103674000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:103671000-103674200	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:103671000-103674400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:103671000-103674400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:103671000-103674400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:103671000-103674400	Weak transcription	Fetal Intestine Small	intestine
34	chr8:103671000-103674400	Weak transcription	Small Intestine	intestine
35	chr8:103671000-103674400	Weak transcription	Thymus	Thymus
36	chr8:103671000-103674400	Weak transcription	Hela-S3	cervix
37	chr8:103671000-103674400	Weak transcription	NHDF-Ad	bronchial
38	chr8:103671000-103674600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:103671000-103674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:103671000-103674600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:103671000-103674600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:103671000-103674600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:103671000-103674600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:103671000-103674600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:103671000-103674600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:103671000-103674600	Weak transcription	Left Ventricle	heart
47	chr8:103671000-103674600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr8:103671000-103674600	Weak transcription	NHLF	lung
49	chr8:103671000-103674600	Weak transcription	Osteobl	bone
50	chr8:103671000-103674800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links