Variant report

Variant	rs12618933
Chromosome Location	chr2:174136356-174136357
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	chr2:174135993-174136443	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
MLK7-AS1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11685378	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11692098	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11695778	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12620774	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13023958	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13031154	0.94[ASN][1000 genomes]
rs3769148	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66691946	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs752077	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
2	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
3	chr2:174122600-174136400	Weak transcription	Stomach Mucosa	stomach
4	chr2:174123800-174136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:174126000-174138000	Weak transcription	Psoas Muscle	Psoas
6	chr2:174126400-174138800	Weak transcription	Right Ventricle	heart
7	chr2:174130000-174136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:174130000-174136400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:174130000-174136600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:174130000-174137800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:174131000-174137800	Weak transcription	Brain Germinal Matrix	brain
12	chr2:174131200-174136400	Weak transcription	NHEK	skin
13	chr2:174131200-174139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:174131400-174136400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:174131400-174136600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:174131400-174136800	Weak transcription	A549	lung
17	chr2:174131600-174136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:174131600-174136400	Weak transcription	Osteobl	bone
19	chr2:174132000-174136600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:174132800-174136400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:174132800-174136400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:174132800-174136400	Weak transcription	HMEC	breast
23	chr2:174133000-174136400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:174133000-174136600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:174133000-174137600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:174133200-174136400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:174133200-174137800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:174133400-174136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:174133600-174138800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:174136000-174136600	Enhancers	Pancreas	Pancrea
31	chr2:174136000-174136800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:174136200-174136400	Enhancers	Fetal Intestine Large	intestine
33	chr2:174136200-174136400	Enhancers	Gastric	stomach
34	chr2:174136200-174136600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:174136200-174136800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:174136200-174137000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:174136200-174137000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:174136200-174138200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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