Variant report

Variant	rs2037857
Chromosome Location	chr12:45668355-45668356
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45662725..45665440-chr12:45666168..45668980,3	K562	blood:
2	chr12:45608183..45610054-chr12:45668123..45670061,2	MCF-7	breast:
3	chr12:45666061..45668548-chr12:45671361..45673556,2	K562	blood:
4	chr12:45666236..45669203-chr12:45679829..45682427,2	MCF-7	breast:
5	chr12:45668006..45670092-chr12:45670299..45672626,2	MCF-7	breast:
6	chr12:45654235..45656718-chr12:45666957..45669692,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1015625	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1025088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467095	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10492285	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs10736024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748416	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12578188	1.00[CEU][hapmap]
rs12578220	1.00[CEU][hapmap]
rs12578314	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs12579080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12580320	1.00[CEU][hapmap]
rs12581525	1.00[CEU][hapmap]
rs12581554	1.00[CEU][hapmap]
rs12582025	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12582369	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs17095441	1.00[CEU][hapmap]
rs17095584	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs17095688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17095713	1.00[CEU][hapmap]
rs17095716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095736	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs17095784	1.00[CEU][hapmap]
rs17095866	1.00[CEU][hapmap]
rs17095888	1.00[CEU][hapmap]
rs17095911	1.00[CEU][hapmap]
rs1896027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913690	0.83[AFR][1000 genomes]
rs2012937	1.00[AFR][1000 genomes]
rs2037856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3920257	1.00[CEU][hapmap]
rs41331147	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs4489808	0.91[ASN][1000 genomes]
rs4768087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768598	1.00[AFR][1000 genomes]
rs4768600	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582541	0.81[AFR][1000 genomes]
rs6582542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7138247	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs7304389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7304749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7307262	0.84[YRI][hapmap];0.91[AFR][1000 genomes]
rs7486228	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965430	0.82[YRI][hapmap]

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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45651400-45675600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:45651600-45674000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:45662800-45677400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:45662800-45685400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:45663000-45670000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:45663000-45677400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:45663000-45677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:45663000-45678200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:45663200-45674000	Weak transcription	Dnd41	blood
12	chr12:45663200-45678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:45663400-45672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:45663400-45677400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:45663400-45677400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:45663400-45680400	Weak transcription	GM12878-XiMat	blood
17	chr12:45663600-45674400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:45663600-45677000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:45664000-45672200	Weak transcription	Liver	Liver
20	chr12:45664000-45676000	Weak transcription	Fetal Stomach	stomach
21	chr12:45664000-45678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:45664200-45669800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:45664400-45677600	Weak transcription	Fetal Kidney	kidney
24	chr12:45665000-45668800	Enhancers	NHDF-Ad	bronchial
25	chr12:45665000-45673600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:45665400-45668400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:45665400-45668400	Strong transcription	Fetal Thymus	thymus
28	chr12:45665600-45676000	Weak transcription	Thymus	Thymus
29	chr12:45666200-45668800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:45666600-45668400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:45666600-45670600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:45666800-45668600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:45666800-45668600	Enhancers	Right Atrium	heart
35	chr12:45666800-45668600	Enhancers	Small Intestine	intestine
36	chr12:45666800-45668800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:45666800-45668800	Enhancers	Hela-S3	cervix
38	chr12:45666800-45668800	Enhancers	HMEC	breast
39	chr12:45666800-45668800	Enhancers	NHLF	lung
40	chr12:45667000-45668600	Enhancers	HSMMtube	muscle
41	chr12:45667000-45668800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:45667000-45670400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr12:45667200-45668600	Enhancers	Right Ventricle	heart
44	chr12:45667200-45668800	Enhancers	Fetal Heart	heart
45	chr12:45667200-45670200	Enhancers	Psoas Muscle	Psoas
46	chr12:45667400-45668400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:45667400-45668400	Enhancers	Duodenum Mucosa	Duodenum
48	chr12:45667400-45668400	Genic enhancers	Fetal Muscle Leg	muscle
49	chr12:45667400-45668400	Flanking Active TSS	Osteobl	bone
50	chr12:45667400-45668600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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