Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44771877..44773660-chr12:44776294..44779206,2	K562	blood:
2	chr12:44778148..44778873-chr12:127671997..127672597,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10506243	1.00[CEU][hapmap]
rs10506244	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs10506245	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11182470	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11182477	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12300292	1.00[CEU][hapmap]
rs1527315	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17094382	1.00[CEU][hapmap]
rs17094386	1.00[CEU][hapmap]
rs17094396	1.00[CEU][hapmap]
rs17094401	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17094405	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17094408	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17094412	1.00[CEU][hapmap]
rs17094423	1.00[CEU][hapmap]
rs17094437	1.00[CEU][hapmap]
rs17094465	0.84[EUR][1000 genomes]
rs17094473	0.84[EUR][1000 genomes]
rs17094505	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs17094509	0.84[EUR][1000 genomes]
rs17094532	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17094560	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1716605	1.00[CEU][hapmap]
rs1726889	1.00[CEU][hapmap]
rs3858725	1.00[CEU][hapmap]
rs4307772	1.00[CEU][hapmap]
rs7953537	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs840774	1.00[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826356	chr12:44725069-44783443	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
2	chr12:44762000-44791200	Weak transcription	Fetal Intestine Large	intestine
3	chr12:44770000-44784400	Weak transcription	Pancreas	Pancrea
4	chr12:44770000-44785200	Weak transcription	Adipose Nuclei	Adipose
5	chr12:44771200-44781800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:44772000-44782200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44772400-44787000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44773800-44779800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:44775400-44779800	Weak transcription	Fetal Stomach	stomach
10	chr12:44775400-44783200	Weak transcription	Fetal Brain Female	brain
11	chr12:44775600-44783800	Weak transcription	Fetal Heart	heart
12	chr12:44777200-44779000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:44777400-44779000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:44777800-44778800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:44777800-44779400	Enhancers	Pancreatic Islets	Pancreatic Islet

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