Variant report

Variant	rs1968563
Chromosome Location	chr2:187407876-187407877
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187406067..187412442-chr2:187438004..187442761,8	MCF-7	breast:
2	chr2:187392659..187395517-chr2:187406680..187408986,2	MCF-7	breast:
3	chr2:187405383..187412410-chr2:187452886..187457882,13	MCF-7	breast:
4	chr2:187406917..187410917-chr2:187453199..187456715,8	MCF-7	breast:
5	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
6	chr2:187406244..187408980-chr2:187422400..187424184,2	MCF-7	breast:
7	chr2:187402678..187405489-chr2:187406962..187408853,3	K562	blood:
8	chr2:187407559..187410721-chr2:187423895..187426771,4	MCF-7	breast:
9	chr2:187402678..187406003-chr2:187406962..187409944,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10931250	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10931251	0.95[AFR][1000 genomes]
rs11888813	1.00[AFR][1000 genomes]
rs1376780	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1376782	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1448425	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1451876	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1530312	1.00[AFR][1000 genomes]
rs1597186	1.00[AFR][1000 genomes]
rs2119862	1.00[AFR][1000 genomes]
rs4667105	0.95[AFR][1000 genomes]
rs6434186	0.95[AFR][1000 genomes]
rs6735503	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs6739787	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7584678	0.95[AFR][1000 genomes]
rs921503	1.00[YRI][hapmap];0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:187399400-187408200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:187405200-187411800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:187405600-187408200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:187406000-187408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:187406000-187410000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:187406400-187408200	Weak transcription	HSMM	muscle
9	chr2:187406400-187408400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:187406400-187408600	Enhancers	HepG2	liver
11	chr2:187406400-187408600	Enhancers	HUVEC	blood vessel
12	chr2:187406600-187408400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:187406600-187408600	Enhancers	NHEK	skin
14	chr2:187406600-187412000	Enhancers	HMEC	breast
15	chr2:187406800-187408200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:187406800-187408400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:187406800-187408600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:187406800-187409200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:187407000-187408200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:187407000-187408200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:187407000-187408200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:187407000-187408200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:187407000-187408200	Weak transcription	HSMMtube	muscle
24	chr2:187407000-187408200	Weak transcription	NH-A	brain
25	chr2:187407000-187408200	Weak transcription	NHDF-Ad	bronchial
26	chr2:187407000-187408200	Weak transcription	Osteobl	bone
27	chr2:187407000-187408400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:187407000-187408400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:187407000-187408400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:187407000-187408400	Enhancers	Placenta	Placenta
31	chr2:187407000-187408600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:187407000-187408800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:187407000-187408800	Weak transcription	Fetal Lung	lung
34	chr2:187407000-187410000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:187407200-187408200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:187407200-187408200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:187407200-187408200	Weak transcription	A549	lung
38	chr2:187407200-187408200	Weak transcription	Hela-S3	cervix
39	chr2:187407200-187408600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:187407800-187408000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:187407800-187408800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:187407800-187410800	Enhancers	Stomach Mucosa	stomach
43	chr2:187407800-187411000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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