Variant report

Variant	rs908437
Chromosome Location	chr2:183887978-183887979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:183887932-183889765	K562	blood:	n/a	n/a
2	STAT3	chr2:183887932-183888397	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:183856507..183858799-chr2:183887931..183890919,2	K562	blood:
2	chr2:183886816..183889401-chr2:183988651..183990376,2	K562	blood:
3	chr2:183886254..183889249-chr2:183902321..183904164,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202141	TF binding region
ENSG00000163002	Chromatin interaction
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10185562	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10185998	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1400128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2063873	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2368350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60969946	0.84[AFR][1000 genomes]
rs963107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183846000-183902000	Weak transcription	Lung	lung
3	chr2:183854000-183898800	Weak transcription	Fetal Brain Male	brain
4	chr2:183859600-183899400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:183862400-183894400	Weak transcription	Placenta	Placenta
6	chr2:183866800-183889000	Weak transcription	Fetal Lung	lung
7	chr2:183866800-183889200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:183867800-183889200	Weak transcription	Liver	Liver
9	chr2:183875000-183890000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:183875200-183888600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:183875200-183891000	Weak transcription	Pancreas	Pancrea
12	chr2:183875200-183896200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:183875200-183896600	Weak transcription	Hela-S3	cervix
14	chr2:183875400-183897000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:183875400-183899600	Weak transcription	HSMMtube	muscle
16	chr2:183878400-183888600	Weak transcription	Adipose Nuclei	Adipose
17	chr2:183878600-183889600	Weak transcription	Ovary	ovary
18	chr2:183878800-183889600	Weak transcription	Gastric	stomach
19	chr2:183878800-183902000	Weak transcription	Esophagus	oesophagus
20	chr2:183879200-183900200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:183879400-183889200	Weak transcription	NHLF	lung
22	chr2:183879600-183890800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:183879600-183897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:183879800-183888400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:183879800-183888400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:183879800-183889600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:183880200-183900800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:183881000-183888800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:183881400-183894200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:183881600-183888400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:183881600-183889400	Weak transcription	Aorta	Aorta
32	chr2:183881800-183897800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:183882400-183888400	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:183882400-183889600	Weak transcription	Right Ventricle	heart
35	chr2:183882400-183891000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:183882400-183894400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:183882600-183889600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:183882600-183896400	Weak transcription	Fetal Brain Female	brain
39	chr2:183882800-183890800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:183882800-183893200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:183883400-183889000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:183883400-183896400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:183884000-183889000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:183884200-183888800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:183885200-183888400	Weak transcription	Right Atrium	heart
46	chr2:183885400-183888200	Strong transcription	NHDF-Ad	bronchial
47	chr2:183885400-183888800	Strong transcription	K562	blood
48	chr2:183885800-183888000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:183885800-183888600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:183885800-183888600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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