Variant report

Variant	rs10195345
Chromosome Location	chr2:190405008-190405009
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190403306..190405315-chr2:190406794..190408650,2	MCF-7	breast:
2	chr2:190351477..190353454-chr2:190404862..190406371,2	MCF-7	breast:
3	chr2:190401662..190406331-chr2:190407018..190410749,6	K562	blood:
4	chr2:190306234..190308352-chr2:190404768..190407547,3	MCF-7	breast:
5	chr2:190404115..190405924-chr2:190407998..190410767,2	MCF-7	breast:
6	chr2:190398000..190401261-chr2:190402799..190406846,4	K562	blood:
7	chr2:190401662..190405486-chr2:190407018..190410540,7	K562	blood:
8	chr2:190386851..190389164-chr2:190404426..190407067,2	K562	blood:
9	chr2:190403642..190408765-chr2:190418705..190422272,7	MCF-7	breast:
10	chr2:190365552..190368406-chr2:190403748..190406239,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233996	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10173590	0.85[AFR][1000 genomes]
rs10188755	0.85[AFR][1000 genomes]
rs13387511	1.00[YRI][hapmap]
rs13388478	0.84[AFR][1000 genomes]
rs13398454	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13399776	0.84[AFR][1000 genomes]
rs13411677	0.92[AFR][1000 genomes]
rs13419514	1.00[AFR][1000 genomes]
rs13419629	0.92[AFR][1000 genomes]
rs13420166	0.92[AFR][1000 genomes]
rs13420264	0.92[AFR][1000 genomes]
rs13431938	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs13432175	0.85[AFR][1000 genomes]
rs28435467	0.92[AFR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190392400-190406400	Weak transcription	Small Intestine	intestine
2	chr2:190398400-190405800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:190399400-190410200	Weak transcription	Aorta	Aorta
4	chr2:190399800-190405600	Weak transcription	HMEC	breast
5	chr2:190400200-190406000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:190400400-190406000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:190400400-190407200	Weak transcription	A549	lung
8	chr2:190400400-190410000	Weak transcription	Fetal Lung	lung
9	chr2:190400600-190406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:190400800-190405200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:190400800-190406000	Weak transcription	Psoas Muscle	Psoas
12	chr2:190400800-190408400	Weak transcription	Adipose Nuclei	Adipose
13	chr2:190401000-190406200	Weak transcription	Gastric	stomach
14	chr2:190401000-190406400	Weak transcription	Pancreas	Pancrea
15	chr2:190401000-190409400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:190402000-190406200	Weak transcription	K562	blood
17	chr2:190403600-190405200	Weak transcription	Fetal Intestine Small	intestine
18	chr2:190403600-190405800	Weak transcription	HepG2	liver
19	chr2:190404800-190405200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:190404800-190408800	Enhancers	Stomach Mucosa	stomach
21	chr2:190405000-190405200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:190405000-190405200	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:190405000-190405400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:190405000-190405600	Enhancers	Placenta	Placenta
25	chr2:190405000-190405800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:190405000-190405800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:190405000-190406200	Enhancers	NHEK	skin
28	chr2:190405000-190406400	Weak transcription	Ovary	ovary
29	chr2:190405000-190407000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:190405000-190408200	Enhancers	Fetal Intestine Large	intestine

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