Variant report

Variant	rs1675755
Chromosome Location	chr12:44278773-44278774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44127316..44130313-chr12:44278484..44280502,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1057486	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10748373	0.84[EUR][1000 genomes]
rs10748378	0.84[EUR][1000 genomes]
rs10785462	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs10785463	0.84[EUR][1000 genomes]
rs10785466	0.84[EUR][1000 genomes]
rs10785481	0.93[MEX][hapmap];0.81[MKK][hapmap]
rs10880573	0.82[GIH][hapmap]
rs10880578	0.86[EUR][1000 genomes]
rs10880585	0.84[EUR][1000 genomes]
rs10880587	0.81[MEX][hapmap];0.81[MKK][hapmap]
rs11182293	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11182324	0.84[EUR][1000 genomes]
rs11182325	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs12298970	0.82[EUR][1000 genomes]
rs12311962	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs12314126	0.93[CEU][hapmap];0.82[GIH][hapmap];0.84[MKK][hapmap];0.81[TSI][hapmap]
rs1358705	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs1406787	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1609548	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1609549	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs1610291	0.84[EUR][1000 genomes]
rs1614042	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs1621279	0.93[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.81[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1622590	0.93[CEU][hapmap];0.88[GIH][hapmap];0.93[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1623667	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1623829	0.85[EUR][1000 genomes]
rs1675756	0.88[EUR][1000 genomes]
rs1675758	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1675764	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs1675765	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1675767	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1675769	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1675771	0.93[CEU][hapmap];0.82[GIH][hapmap];0.84[MKK][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs1675772	0.83[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs1675774	0.86[EUR][1000 genomes]
rs1675776	0.83[EUR][1000 genomes]
rs1675778	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs1675781	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs1675782	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs1675783	0.84[EUR][1000 genomes]
rs1675784	0.84[EUR][1000 genomes]
rs1675785	0.93[CEU][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1675787	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs1675788	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs1675789	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs1675790	0.86[EUR][1000 genomes]
rs1731423	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1731427	0.82[GIH][hapmap]
rs1731430	0.87[EUR][1000 genomes]
rs1731431	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1731432	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1731434	0.83[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.93[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1731438	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs1731439	0.93[CEU][hapmap];0.82[GIH][hapmap];0.84[MKK][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs1731440	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs1731442	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs1731448	0.93[CEU][hapmap];0.82[GIH][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs1731452	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1731454	0.93[CEU][hapmap];0.96[GIH][hapmap];0.82[LWK][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1731456	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs1731457	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs1731458	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs1731459	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2219629	0.81[EUR][1000 genomes]
rs2407783	0.84[EUR][1000 genomes]
rs2447113	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs2447114	0.84[EUR][1000 genomes]
rs2447115	0.84[EUR][1000 genomes]
rs2447116	0.84[EUR][1000 genomes]
rs2614394	0.82[GIH][hapmap]
rs2951435	0.86[EUR][1000 genomes]
rs2951436	0.84[EUR][1000 genomes]
rs4238089	0.84[EUR][1000 genomes]
rs4238091	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs4363674	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs4469953	0.84[EUR][1000 genomes]
rs4537822	0.84[EUR][1000 genomes]
rs4572198	0.84[EUR][1000 genomes]
rs4572199	0.84[EUR][1000 genomes]
rs4609659	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs4768049	0.83[EUR][1000 genomes]
rs4768053	0.86[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs4768538	0.84[EUR][1000 genomes]
rs4768543	0.82[EUR][1000 genomes]
rs4768546	1.00[YRI][hapmap]
rs5019975	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs7295151	0.82[EUR][1000 genomes]
rs7305609	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73096934	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7311847	0.82[ASW][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7955615	0.83[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7965873	0.81[MEX][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	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44274600-44286000	Weak transcription	Pancreas	Pancrea
4	chr12:44275000-44281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:44277000-44279600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44277800-44279600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:44278200-44279200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:44278200-44279200	Enhancers	Brain Substantia Nigra	brain
9	chr12:44278200-44279200	Enhancers	Fetal Heart	heart
10	chr12:44278200-44279200	Enhancers	Left Ventricle	heart
11	chr12:44278400-44279000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:44278400-44279000	Enhancers	Colon Smooth Muscle	Colon
13	chr12:44278400-44279200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:44278400-44279200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:44278400-44279200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:44278400-44279200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:44278400-44279200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:44278400-44279200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:44278400-44279200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:44278400-44279200	Enhancers	Brain Hippocampus Middle	brain
21	chr12:44278400-44279200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:44278400-44279800	Enhancers	Brain Angular Gyrus	brain
23	chr12:44278400-44280200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:44278600-44279000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:44278600-44279000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr12:44278600-44279000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr12:44278600-44279000	Enhancers	Right Atrium	heart
28	chr12:44278600-44279200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:44278600-44279200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:44278600-44279200	Enhancers	Esophagus	oesophagus
31	chr12:44278600-44279200	Enhancers	Stomach Smooth Muscle	stomach
32	chr12:44278600-44279200	Flanking Active TSS	HMEC	breast
33	chr12:44278600-44279200	Enhancers	NHEK	skin
34	chr12:44278600-44279800	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:44278600-44285800	Weak transcription	Osteobl	bone
36	chr12:44278600-44287400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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