Variant report

Variant	rs2053127
Chromosome Location	chr8:103674843-103674844
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103672477..103675226-chr8:103793415..103795051,2	MCF-7	breast:
2	chr8:103674710..103676295-chr8:103820852..103822638,2	MCF-7	breast:
3	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
4	chr8:103611593..103614378-chr8:103673976..103676752,2	MCF-7	breast:
5	chr8:103672001..103675090-chr8:103685328..103688454,3	K562	blood:
6	chr8:103673572..103675121-chr8:103706478..103708359,2	K562	blood:

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	0.81[EUR][1000 genomes]
rs2436934	0.92[EUR][1000 genomes]
rs2436935	0.92[EUR][1000 genomes]
rs2436939	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2436941	0.92[EUR][1000 genomes]
rs2511715	0.92[EUR][1000 genomes]
rs2511716	0.92[EUR][1000 genomes]
rs2511717	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2511720	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2511721	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2511725	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2511726	0.92[EUR][1000 genomes]
rs2511727	0.92[EUR][1000 genomes]
rs2511728	0.92[EUR][1000 genomes]
rs2511729	0.92[EUR][1000 genomes]
rs6984818	1.00[JPT][hapmap]
rs919949	1.00[CEU][hapmap];0.84[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103670600-103675200	Weak transcription	Gastric	stomach
2	chr8:103670800-103675000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:103670800-103675000	Weak transcription	Fetal Intestine Large	intestine
4	chr8:103670800-103675000	Weak transcription	NH-A	brain
5	chr8:103670800-103675200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:103670800-103678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:103671000-103675000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:103671000-103675000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:103671000-103675200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:103671000-103675200	Weak transcription	Esophagus	oesophagus
11	chr8:103671000-103675200	Weak transcription	Right Ventricle	heart
12	chr8:103671000-103675200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:103671000-103675400	Weak transcription	Colonic Mucosa	Colon
14	chr8:103671000-103675600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:103671000-103678600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:103671200-103678400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:103673400-103675600	Enhancers	Spleen	Spleen
18	chr8:103673400-103675600	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:103673600-103675600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:103673600-103675600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:103673600-103675600	Enhancers	Fetal Thymus	thymus
22	chr8:103673600-103675600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:103673800-103675600	Enhancers	Right Atrium	heart
24	chr8:103674200-103675600	Enhancers	Brain Hippocampus Middle	brain
25	chr8:103674200-103675600	Enhancers	Colon Smooth Muscle	Colon
26	chr8:103674200-103675600	Enhancers	Placenta	Placenta
27	chr8:103674400-103675000	Enhancers	Rectal Smooth Muscle	rectum
28	chr8:103674400-103675200	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr8:103674400-103675200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr8:103674400-103675400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr8:103674400-103675400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:103674400-103675400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:103674400-103675400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr8:103674400-103675400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:103674400-103675400	Enhancers	Fetal Muscle Trunk	muscle
36	chr8:103674400-103675400	Enhancers	Thymus	Thymus
37	chr8:103674400-103675400	Enhancers	Hela-S3	cervix
38	chr8:103674400-103675600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:103674400-103675600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:103674400-103675600	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:103674400-103675600	Enhancers	Fetal Intestine Small	intestine
42	chr8:103674400-103675600	Enhancers	Fetal Lung	lung
43	chr8:103674400-103675600	Enhancers	Fetal Stomach	stomach
44	chr8:103674400-103675600	Enhancers	Lung	lung
45	chr8:103674400-103675600	Enhancers	Small Intestine	intestine
46	chr8:103674400-103675600	Enhancers	Stomach Mucosa	stomach
47	chr8:103674400-103675600	Enhancers	NHDF-Ad	bronchial
48	chr8:103674600-103675000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:103674600-103675000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:103674600-103675000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links