Variant report

Variant	rs59462111
Chromosome Location	chr2:187440002-187440003
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: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	chr2:187438845..187441409-chr2:187470852..187472926,2	K562	blood:
2	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
3	chr2:187410468..187412799-chr2:187439579..187442121,2	MCF-7	breast:
4	chr2:187437479..187442784-chr2:187443924..187447436,6	MCF-7	breast:
5	chr2:187438759..187442258-chr2:187444014..187446139,4	MCF-7	breast:
6	chr2:187406067..187412442-chr2:187438004..187442761,8	MCF-7	breast:
7	chr2:187435611..187437376-chr2:187439116..187441984,2	MCF-7	breast:
8	chr2:187438412..187440075-chr2:187442178..187444992,2	K562	blood:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1448426	0.88[AFR][1000 genomes]
rs41444351	0.88[AFR][1000 genomes]
rs56831388	0.88[AFR][1000 genomes]
rs61762256	1.00[AMR][1000 genomes]
rs61763607	1.00[AMR][1000 genomes]
rs61763626	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
8	nsv1014203	chr2:187413781-187477586	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv536083	chr2:187413781-187477586	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv2756507	chr2:187416494-187470494	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv2756956	chr2:187416599-187492742	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv818105	chr2:187423298-187481835	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv2753217	chr2:187424494-187470494	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv10208	chr2:187436719-187443357	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187426600-187441200	Weak transcription	Aorta	Aorta
2	chr2:187435600-187441400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:187435600-187453800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:187435800-187440400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:187435800-187440600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:187438200-187440400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:187438600-187448600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:187439200-187442400	Enhancers	NH-A	brain
9	chr2:187439400-187440400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:187439400-187440800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:187439400-187440800	Enhancers	Fetal Intestine Small	intestine
12	chr2:187439400-187440800	Flanking Active TSS	A549	lung
13	chr2:187439400-187441400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:187439400-187441400	Enhancers	NHEK	skin
15	chr2:187439400-187441600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:187439400-187441600	Enhancers	NHDF-Ad	bronchial
17	chr2:187439400-187441800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:187439400-187442200	Enhancers	Osteobl	bone
19	chr2:187439400-187442800	Enhancers	HUVEC	blood vessel
20	chr2:187439600-187440400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:187439600-187440800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:187439600-187440800	Enhancers	Fetal Lung	lung
23	chr2:187439600-187440800	Enhancers	HepG2	liver
24	chr2:187439600-187440800	Enhancers	K562	blood
25	chr2:187439600-187441600	Enhancers	HSMM	muscle
26	chr2:187439800-187440200	Weak transcription	HMEC	breast
27	chr2:187439800-187440600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:187439800-187440600	Enhancers	Hela-S3	cervix
29	chr2:187439800-187440800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:187439800-187440800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:187439800-187440800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:187439800-187440800	Enhancers	Colon Smooth Muscle	Colon
33	chr2:187439800-187441600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:187439800-187441600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:187439800-187441600	Enhancers	Fetal Intestine Large	intestine
36	chr2:187439800-187441800	Enhancers	HSMMtube	muscle
37	chr2:187439800-187442000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:187440000-187440200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:187440000-187440400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:187440000-187440400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:187440000-187440400	Enhancers	GM12878-XiMat	blood
42	chr2:187440000-187440800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:187440000-187440800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:187440000-187440800	Enhancers	Stomach Mucosa	stomach
45	chr2:187440000-187441400	Enhancers	Fetal Stomach	stomach
46	chr2:187440000-187441800	Enhancers	Stomach Smooth Muscle	stomach

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