Variant report

Variant	rs59403412
Chromosome Location	chr2:187435623-187435624
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187435611..187437376-chr2:187439116..187441984,2	MCF-7	breast:
2	chr2:187435550..187437375-chr2:187442844..187445371,2	K562	blood:
3	chr2:187411689..187413817-chr2:187434858..187437606,2	MCF-7	breast:
4	chr2:187433203..187436265-chr2:187453472..187457114,4	K562	blood:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10176849	1.00[AMR][1000 genomes]
rs10196330	1.00[AMR][1000 genomes]
rs10209888	1.00[AMR][1000 genomes]
rs13398338	1.00[AMR][1000 genomes]
rs13401340	1.00[AMR][1000 genomes]
rs13405248	1.00[AMR][1000 genomes]
rs13408748	1.00[AMR][1000 genomes]
rs1375322	1.00[AMR][1000 genomes]
rs16827824	1.00[AMR][1000 genomes]
rs28537983	1.00[AMR][1000 genomes]
rs56182722	1.00[AMR][1000 genomes]
rs56384819	1.00[AMR][1000 genomes]
rs58626242	1.00[AMR][1000 genomes]
rs73979166	1.00[AMR][1000 genomes]
rs73979176	1.00[AMR][1000 genomes]
rs73979178	1.00[AMR][1000 genomes]
rs73979180	1.00[AMR][1000 genomes]
rs73979339	1.00[AMR][1000 genomes]
rs73979353	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	esv1007920	chr2:187427312-187437824	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187426600-187441200	Weak transcription	Aorta	Aorta
2	chr2:187434400-187436200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:187434600-187435800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:187434600-187435800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:187434600-187435800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:187434600-187435800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:187434600-187435800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:187434600-187435800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:187434600-187435800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:187434600-187435800	Enhancers	HUVEC	blood vessel
11	chr2:187434600-187435800	Enhancers	K562	blood
12	chr2:187434600-187435800	Enhancers	NH-A	brain
13	chr2:187434600-187436000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:187434600-187436000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:187434600-187436000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:187434600-187436000	Enhancers	Osteobl	bone
17	chr2:187434600-187436200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:187434600-187436200	Flanking Active TSS	A549	lung
19	chr2:187434600-187436400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:187434600-187436400	Enhancers	Hela-S3	cervix
21	chr2:187434600-187436800	Enhancers	Stomach Mucosa	stomach
22	chr2:187434800-187435800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:187434800-187435800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:187434800-187435800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:187434800-187436000	Enhancers	Fetal Kidney	kidney
26	chr2:187434800-187436000	Enhancers	HMEC	breast
27	chr2:187434800-187438200	Enhancers	NHEK	skin
28	chr2:187435000-187436000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:187435000-187436000	Enhancers	HepG2	liver
30	chr2:187435000-187436200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:187435200-187435800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:187435200-187435800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:187435200-187439800	Weak transcription	HSMMtube	muscle
34	chr2:187435400-187438200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:187435400-187439400	Weak transcription	Fetal Intestine Small	intestine
36	chr2:187435400-187439600	Weak transcription	HSMM	muscle
37	chr2:187435600-187437600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:187435600-187439800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:187435600-187441400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:187435600-187453800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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