Variant report

Variant	rs7964668
Chromosome Location	chr12:117498825-117498826
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117498452..117500621-chr12:117503397..117505307,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10735100	0.88[JPT][hapmap]
rs10735101	0.88[JPT][hapmap]
rs10744887	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774895	0.94[JPT][hapmap]
rs10774898	0.88[JPT][hapmap]
rs10774899	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850734	0.88[JPT][hapmap]
rs10850745	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850746	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850747	0.96[CEU][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10850751	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850752	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068299	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068300	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068301	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068306	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11611741	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11832441	0.93[EUR][1000 genomes]
rs11834817	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11837022	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12368876	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472523	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062528	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2173654	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291911	0.88[CEU][hapmap];0.98[GIH][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs2291916	0.88[JPT][hapmap];0.84[MEX][hapmap]
rs2393124	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782191	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782192	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4766816	0.88[JPT][hapmap]
rs4766823	0.88[JPT][hapmap]
rs4766825	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767477	0.88[JPT][hapmap]
rs55969361	0.93[EUR][1000 genomes]
rs58470318	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59756806	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6490103	0.88[JPT][hapmap]
rs6490104	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6490105	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6490106	1.00[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6490107	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7133090	0.88[JPT][hapmap]
rs7294692	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7297303	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7297917	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7486428	0.88[JPT][hapmap]
rs7953553	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7956481	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7960638	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7960731	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7964686	0.92[CEU][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs7968761	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7968891	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971795	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7972416	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7978810	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs9634171	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.99[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	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7964668	HRK	cis	multi-tissue	Pritchard
rs7964668	TESC	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117486600-117500400	Weak transcription	Fetal Lung	lung
2	chr12:117487200-117500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:117489600-117500400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117491600-117500400	Weak transcription	GM12878-XiMat	blood
5	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:117495200-117500600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:117495400-117502600	Weak transcription	A549	lung
8	chr12:117495600-117500400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:117496000-117499600	Enhancers	Fetal Heart	heart
10	chr12:117496200-117499400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:117496400-117499000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:117496400-117499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:117496600-117499400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:117496600-117500000	Enhancers	Left Ventricle	heart
15	chr12:117496800-117499000	Enhancers	Brain Germinal Matrix	brain
16	chr12:117497200-117499000	Weak transcription	Spleen	Spleen
17	chr12:117497200-117500400	Weak transcription	Gastric	stomach
18	chr12:117497800-117499000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:117497800-117499200	Enhancers	Fetal Brain Male	brain
20	chr12:117497800-117499600	Enhancers	Right Ventricle	heart
21	chr12:117497800-117500800	Enhancers	Primary B cells from cord blood	blood
22	chr12:117497800-117506000	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:117498000-117499000	Enhancers	Esophagus	oesophagus
24	chr12:117498000-117499600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:117498000-117499600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:117498000-117499600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:117498000-117499600	Enhancers	K562	blood
28	chr12:117498000-117500600	Enhancers	Fetal Thymus	thymus
29	chr12:117498200-117499000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:117498200-117499000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr12:117498200-117499200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:117498200-117499200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:117498200-117499200	Enhancers	Right Atrium	heart
34	chr12:117498200-117499400	Enhancers	Thymus	Thymus
35	chr12:117498200-117500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:117498400-117499000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:117498400-117499000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:117498400-117499000	Weak transcription	Brain Angular Gyrus	brain
39	chr12:117498400-117499000	Enhancers	Brain Hippocampus Middle	brain
40	chr12:117498400-117499000	Enhancers	Pancreas	Pancrea
41	chr12:117498400-117499200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:117498400-117499200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:117498400-117499200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:117498400-117499200	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:117498400-117499400	Enhancers	Placenta	Placenta
46	chr12:117498400-117499600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr12:117498400-117499600	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr12:117498400-117499800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:117498400-117500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:117498600-117499000	Enhancers	HUES6 Cell Line	embryonic stem cell

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