Variant report

Variant	rs4237940
Chromosome Location	chr12:12712694-12712695
allele	C/G
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	chr12:12710433..12719642-chr12:12755652..12767678,23	MCF-7	breast:
2	chr12:12712251..12716973-chr12:12867058..12873344,10	MCF-7	breast:
3	chr12:12603843..12606415-chr12:12711459..12714793,4	MCF-7	breast:
4	chr12:12711165..12717532-chr12:12865354..12880919,24	MCF-7	breast:
5	chr12:12710657..12713156-chr12:12750548..12752486,2	K562	blood:
6	chr12:12672853..12675163-chr12:12712393..12714277,2	K562	blood:
7	chr12:12673127..12675193-chr12:12712366..12713939,3	MCF-7	breast:
8	chr12:12636858..12639097-chr12:12712585..12714151,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111269	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000111266	Chromatin interaction
ENSG00000271370	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000255670	Chromatin interaction
ENSG00000178878	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11830917	0.86[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16908222	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4763837	0.86[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4763838	0.81[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs55946424	0.87[ASN][1000 genomes]
rs56279058	0.87[ASN][1000 genomes]
rs58443254	0.87[ASN][1000 genomes]
rs60909736	0.87[ASN][1000 genomes]
rs73063452	0.87[ASN][1000 genomes]
rs73063453	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12688200-12714400	Weak transcription	Gastric	stomach
2	chr12:12692000-12713000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:12692400-12713600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:12694200-12712800	Weak transcription	Adipose Nuclei	Adipose
5	chr12:12694400-12712800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:12694400-12712800	Weak transcription	Fetal Stomach	stomach
7	chr12:12701400-12712800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:12701400-12713400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:12701400-12713600	Weak transcription	Lung	lung
10	chr12:12701800-12713800	Weak transcription	HSMM	muscle
11	chr12:12703000-12712800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:12703800-12713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:12705600-12713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:12706600-12714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:12707000-12713600	Weak transcription	Placenta	Placenta
16	chr12:12708400-12712800	Weak transcription	Left Ventricle	heart
17	chr12:12708800-12713400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:12709000-12712800	Weak transcription	Right Atrium	heart
19	chr12:12709000-12713400	Weak transcription	Right Ventricle	heart
20	chr12:12709400-12712800	Weak transcription	Small Intestine	intestine
21	chr12:12710400-12713000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:12710400-12713000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:12710800-12712800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:12710800-12712800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:12710800-12713000	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:12711000-12713400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:12711200-12713000	Enhancers	Brain Angular Gyrus	brain
28	chr12:12711400-12713200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:12711400-12716000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr12:12711600-12712800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr12:12711600-12712800	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:12711600-12713600	Weak transcription	Pancreas	Pancrea
33	chr12:12711600-12714000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr12:12711600-12714200	Weak transcription	Esophagus	oesophagus
35	chr12:12711600-12716000	Active TSS	GM12878-XiMat	blood
36	chr12:12711600-12716200	Active TSS	Liver	Liver
37	chr12:12711600-12716200	Active TSS	Duodenum Mucosa	Duodenum
38	chr12:12711600-12716200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr12:12711800-12712800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:12711800-12712800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:12711800-12712800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:12711800-12713200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:12711800-12713600	Weak transcription	Stomach Mucosa	stomach
44	chr12:12711800-12713600	Active TSS	HepG2	liver
45	chr12:12712000-12712800	Weak transcription	Psoas Muscle	Psoas
46	chr12:12712000-12713200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr12:12712000-12714200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:12712000-12716000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:12712000-12716000	Active TSS	Fetal Intestine Large	intestine
50	chr12:12712000-12716200	Active TSS	Fetal Intestine Small	intestine

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