Variant report

Variant	rs2254755
Chromosome Location	chr12:106773136-106773137
allele	C/G
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	E2F4	chr12:106773030-106773475	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106749544..106752533-chr12:106771206..106773752,3	K562	blood:
2	chr12:106741271..106744230-chr12:106772582..106774357,2	K562	blood:

Variant related genes	Relation type
POLR3B	TF binding region
ENSG00000013503	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1004601	0.82[ASN][1000 genomes]
rs10507211	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10746059	0.87[AFR][1000 genomes]
rs10778482	0.85[ASN][1000 genomes]
rs10861580	0.91[AFR][1000 genomes]
rs10861581	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10861582	0.86[AFR][1000 genomes]
rs10861583	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10861586	0.86[AFR][1000 genomes]
rs10861587	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10861588	0.89[YRI][hapmap]
rs10861589	0.88[AFR][1000 genomes]
rs10861590	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10861591	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10861592	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs11112951	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11112952	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11112956	0.87[AFR][1000 genomes]
rs11112957	0.91[AFR][1000 genomes]
rs11611252	0.89[AFR][1000 genomes]
rs11615682	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11835357	0.89[AFR][1000 genomes]
rs12424092	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2243506	0.85[CHB][hapmap]
rs2244958	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2250262	0.81[CHB][hapmap]
rs2264758	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2264759	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288270	0.86[ASN][1000 genomes]
rs34955444	0.91[AFR][1000 genomes]
rs67911933	0.91[AFR][1000 genomes]
rs7134881	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs7135054	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7137444	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs7137638	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs721438	0.83[ASN][1000 genomes]
rs7303737	0.91[ASN][1000 genomes]
rs7310703	0.91[AFR][1000 genomes]
rs7311957	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7313412	0.82[ASN][1000 genomes]
rs7315611	0.82[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	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106752400-106775400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:106752400-106791600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:106752600-106781800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:106752800-106775800	Weak transcription	Aorta	Aorta
5	chr12:106753000-106774000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:106753000-106775800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:106753000-106788800	Weak transcription	Thymus	Thymus
8	chr12:106753000-106791600	Weak transcription	Esophagus	oesophagus
9	chr12:106753000-106793200	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:106753000-106811800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:106753000-106815400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:106753200-106774600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:106753600-106774600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:106753800-106774200	Weak transcription	Small Intestine	intestine
15	chr12:106754000-106774200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:106754000-106775800	Weak transcription	Brain Germinal Matrix	brain
17	chr12:106754400-106775800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:106754800-106778400	Weak transcription	Stomach Mucosa	stomach
19	chr12:106755000-106784600	Weak transcription	Pancreas	Pancrea
20	chr12:106755000-106789000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:106755400-106796400	Weak transcription	Spleen	Spleen
22	chr12:106758600-106775800	Weak transcription	HSMMtube	muscle
23	chr12:106762200-106774200	Weak transcription	Psoas Muscle	Psoas
24	chr12:106763600-106774000	Weak transcription	Colonic Mucosa	Colon
25	chr12:106763800-106781400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:106763800-106783400	Weak transcription	Fetal Brain Male	brain
27	chr12:106764000-106776200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:106764000-106821000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:106764200-106786400	Weak transcription	NHLF	lung
30	chr12:106764400-106773800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:106764400-106811800	Weak transcription	HUVEC	blood vessel
32	chr12:106764800-106774200	Weak transcription	Fetal Thymus	thymus
33	chr12:106765000-106773600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:106765000-106781400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:106765000-106790600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:106765200-106774600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:106767200-106808600	Weak transcription	NHDF-Ad	bronchial
38	chr12:106767600-106774200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:106768000-106773200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:106768000-106779600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:106768200-106773600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:106768600-106774200	Weak transcription	Fetal Intestine Large	intestine
43	chr12:106768800-106777600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:106769200-106776000	Strong transcription	Liver	Liver
45	chr12:106769400-106774800	Strong transcription	HMEC	breast
46	chr12:106769400-106779000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:106769400-106779600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:106769600-106775800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:106769600-106777600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:106769800-106775200	Strong transcription	Primary B cells from cord blood	blood

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