Variant report

Variant	rs13408748
Chromosome Location	chr2:187377602-187377603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187372828..187374469-chr2:187377188..187379476,2	K562	blood:
2	chr2:187375862..187378404-chr2:187453883..187456147,4	MCF-7	breast:
3	chr2:187374448..187380167-chr2:187454386..187459436,9	MCF-7	breast:
4	chr2:187369033..187372134-chr2:187377383..187380441,5	K562	blood:
5	chr2:187377349..187379042-chr2:187478698..187480439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction
ENSG00000065548	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10176849	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196330	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10199530	1.00[AMR][1000 genomes]
rs10209888	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13400461	1.00[AMR][1000 genomes]
rs13401340	1.00[AMR][1000 genomes]
rs13405248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411841	1.00[AMR][1000 genomes]
rs13431396	1.00[AMR][1000 genomes]
rs1375322	1.00[AMR][1000 genomes]
rs16827824	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28537983	1.00[AMR][1000 genomes]
rs56182722	1.00[AMR][1000 genomes]
rs56384819	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58626242	1.00[AMR][1000 genomes]
rs59403412	1.00[AMR][1000 genomes]
rs73979166	1.00[AMR][1000 genomes]
rs73979176	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979178	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979180	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979339	1.00[AMR][1000 genomes]
rs73979353	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187357000-187379000	Strong transcription	Fetal Thymus	thymus
2	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:187357600-187386200	Strong transcription	Dnd41	blood
5	chr2:187358200-187379000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:187358600-187379000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
8	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:187359800-187379000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:187359800-187379200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:187359800-187379400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:187359800-187379800	Strong transcription	HSMM	muscle
13	chr2:187359800-187380400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:187359800-187381400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:187360000-187378600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:187360000-187378800	Strong transcription	Liver	Liver
18	chr2:187360000-187379200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:187360200-187378600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:187360200-187379000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:187360200-187379200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:187360800-187379400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:187361200-187385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:187361400-187389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:187361800-187377800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:187362200-187378400	Strong transcription	K562	blood
28	chr2:187363000-187385600	Weak transcription	Aorta	Aorta
29	chr2:187363000-187387800	Weak transcription	Pancreas	Pancrea
30	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
32	chr2:187363600-187378600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:187364800-187379000	Strong transcription	Placenta	Placenta
34	chr2:187367200-187385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:187367200-187396800	Weak transcription	Gastric	stomach
36	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:187368600-187379000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:187368800-187378800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:187369200-187383400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:187370200-187378600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:187370800-187377800	Weak transcription	Brain Angular Gyrus	brain
42	chr2:187370800-187385600	Weak transcription	Fetal Stomach	stomach
43	chr2:187370800-187385600	Weak transcription	Spleen	Spleen
44	chr2:187370800-187385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:187370800-187385800	Weak transcription	Lung	lung
46	chr2:187370800-187386800	Weak transcription	Stomach Mucosa	stomach
47	chr2:187371000-187385800	Weak transcription	Thymus	Thymus
48	chr2:187371000-187389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
50	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion

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