Variant report

Variant	rs6580791
Chromosome Location	chr12:51510813-51510814
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51508563..51511245-chr12:51513189..51515662,2	K562	blood:
2	chr12:51509871..51511838-chr12:51635094..51637697,2	K562	blood:
3	chr12:51506045..51508271-chr12:51509266..51511241,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10099	0.85[YRI][hapmap]
rs1038526	0.82[YRI][hapmap]
rs10783409	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs10783413	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876130	0.82[CHB][hapmap]
rs10876131	1.00[CHB][hapmap]
rs10876136	0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs10876138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876139	0.98[ASN][1000 genomes]
rs11169707	0.96[ASN][1000 genomes]
rs11169710	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs11610644	0.94[ASN][1000 genomes]
rs12370120	0.90[ASN][1000 genomes]
rs12379	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes]
rs12424509	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1466579	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs15756	1.00[CHB][hapmap]
rs1632791	1.00[CHB][hapmap]
rs17125111	1.00[CHB][hapmap]
rs2010630	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2029145	1.00[CHB][hapmap]
rs2029146	1.00[CHB][hapmap]
rs224572	1.00[CHB][hapmap]
rs2730655	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370462	1.00[CHB][hapmap]
rs3759405	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes]
rs427020	1.00[CHB][hapmap]
rs4438107	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4768970	0.80[EUR][1000 genomes]
rs4991549	0.82[EUR][1000 genomes]
rs6580782	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs6580785	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6580787	0.81[EUR][1000 genomes]
rs6580788	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7953867	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7969803	0.96[ASN][1000 genomes]
rs7971308	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs901313	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51477800-51518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51477800-51518400	Weak transcription	Pancreas	Pancrea
4	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:51483800-51513400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:51484000-51519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:51485000-51513200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:51485800-51513200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:51486000-51511400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:51487000-51511400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:51487200-51513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:51487200-51513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:51487400-51511000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:51487600-51512000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:51493600-51512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:51494400-51515600	Weak transcription	Stomach Mucosa	stomach
18	chr12:51494600-51518200	Weak transcription	Esophagus	oesophagus
19	chr12:51494800-51518400	Weak transcription	Aorta	Aorta
20	chr12:51496400-51523400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:51499200-51513000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:51499600-51511400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:51499800-51513400	Strong transcription	Fetal Thymus	thymus
24	chr12:51500000-51511400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:51500000-51512800	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:51500800-51513200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:51501000-51517400	Weak transcription	Psoas Muscle	Psoas
28	chr12:51501000-51521000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:51501400-51512400	Weak transcription	Fetal Brain Male	brain
30	chr12:51501800-51518400	Weak transcription	Spleen	Spleen
31	chr12:51502200-51511800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:51502200-51527200	Weak transcription	Colonic Mucosa	Colon
33	chr12:51502400-51512400	Weak transcription	HepG2	liver
34	chr12:51502600-51518400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:51502800-51531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:51503000-51512400	Weak transcription	Small Intestine	intestine
37	chr12:51503000-51512800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:51503000-51518400	Weak transcription	NHLF	lung
39	chr12:51503200-51513400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:51503200-51518600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
42	chr12:51503600-51532000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:51504400-51512400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:51504400-51518200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:51504400-51518400	Weak transcription	Ovary	ovary
46	chr12:51504800-51518200	Weak transcription	Gastric	stomach
47	chr12:51504800-51518600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:51504800-51518600	Weak transcription	Brain Substantia Nigra	brain
49	chr12:51504800-51518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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