Variant report

Variant	rs13394932
Chromosome Location	chr2:209134865-209134866
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209129669..209131681-chr2:209132251..209135245,2	K562	blood:
2	chr2:209118313..209121811-chr2:209130870..209135068,6	MCF-7	breast:
3	chr2:209129671..209132812-chr2:209132994..209136144,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231908	Chromatin interaction
ENSG00000138413	Chromatin interaction
ENSG00000115020	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12185547	0.86[AFR][1000 genomes]
rs12465862	0.86[AFR][1000 genomes]
rs12478198	0.86[AFR][1000 genomes]
rs1446320	0.86[AFR][1000 genomes]
rs1446321	0.86[AFR][1000 genomes]
rs1838794	0.86[AFR][1000 genomes]
rs1838795	0.86[AFR][1000 genomes]
rs1838796	0.86[AFR][1000 genomes]
rs2028146	0.86[AFR][1000 genomes]
rs2043720	0.86[AFR][1000 genomes]
rs2044457	0.86[AFR][1000 genomes]
rs2363463	0.86[AFR][1000 genomes]
rs2885785	0.86[AFR][1000 genomes]
rs4673386	0.86[AFR][1000 genomes]
rs4673388	0.82[AFR][1000 genomes]
rs4675745	0.86[AFR][1000 genomes]
rs6705163	0.86[AFR][1000 genomes]
rs6754478	0.86[AFR][1000 genomes]
rs7564882	0.86[AFR][1000 genomes]
rs7576852	0.86[AFR][1000 genomes]
rs7605498	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209131800-209143200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:209132200-209138200	Weak transcription	HSMMtube	muscle
3	chr2:209132200-209144800	Weak transcription	Aorta	Aorta
4	chr2:209132600-209137400	Weak transcription	NHDF-Ad	bronchial
5	chr2:209132600-209137800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:209132600-209138200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:209132800-209136200	Weak transcription	Brain Anterior Caudate	brain
8	chr2:209132800-209136200	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:209132800-209136200	Weak transcription	Placenta	Placenta
10	chr2:209132800-209136200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:209132800-209137000	Weak transcription	HSMM	muscle
12	chr2:209132800-209137800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:209132800-209137800	Weak transcription	A549	lung
14	chr2:209132800-209138200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:209132800-209138200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:209132800-209138200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:209132800-209138200	Weak transcription	NHLF	lung
18	chr2:209132800-209138600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:209132800-209138600	Weak transcription	Fetal Brain Male	brain
20	chr2:209132800-209140800	Weak transcription	Fetal Kidney	kidney
21	chr2:209132800-209141000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:209132800-209141200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:209132800-209142200	Weak transcription	Colonic Mucosa	Colon
24	chr2:209132800-209145000	Weak transcription	Gastric	stomach
25	chr2:209132800-209145600	Weak transcription	Stomach Mucosa	stomach
26	chr2:209132800-209147600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:209133000-209136000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:209133000-209136200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:209133000-209136200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:209133000-209136200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:209133000-209136200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:209133000-209136200	Weak transcription	HUVEC	blood vessel
33	chr2:209133000-209137800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:209133000-209138800	Weak transcription	Hela-S3	cervix
35	chr2:209133000-209138800	Weak transcription	NHEK	skin
36	chr2:209133000-209141400	Weak transcription	Fetal Heart	heart
37	chr2:209133200-209136000	Weak transcription	NH-A	brain
38	chr2:209133200-209136200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:209133200-209136200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:209133200-209136200	Weak transcription	Osteobl	bone
41	chr2:209133200-209138000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:209133200-209138000	Weak transcription	Fetal Brain Female	brain
43	chr2:209133200-209138000	Weak transcription	HMEC	breast
44	chr2:209133200-209138200	Weak transcription	Fetal Lung	lung
45	chr2:209133200-209140800	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:209133200-209141000	Weak transcription	Brain Substantia Nigra	brain
47	chr2:209133400-209136200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:209133400-209137800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:209133600-209136200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:209133600-209137800	Weak transcription	Rectal Smooth Muscle	rectum

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