Variant report

Variant	rs12612895
Chromosome Location	chr2:53887634-53887635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53883186..53885519-chr2:53886263..53888852,2	K562	blood:
2	chr2:53883597..53885623-chr2:53885808..53888099,2	MCF-7	breast:
3	chr2:53887538..53889702-chr2:53894811..53897627,2	K562	blood:
4	chr2:53882348..53885519-chr2:53886263..53888852,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10210726	0.87[EUR][1000 genomes]
rs12612737	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12613682	0.87[EUR][1000 genomes]
rs12614610	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12616124	0.80[EUR][1000 genomes]
rs12617315	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12617360	0.88[EUR][1000 genomes]
rs12617668	0.82[EUR][1000 genomes]
rs12618833	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12621557	0.80[EUR][1000 genomes]
rs12621635	0.80[EUR][1000 genomes]
rs17045114	0.82[ASN][1000 genomes]
rs17045116	0.82[ASN][1000 genomes]
rs17045125	0.85[EUR][1000 genomes]
rs17045215	0.88[EUR][1000 genomes]
rs2009149	0.87[EUR][1000 genomes]
rs2058953	0.91[ASN][1000 genomes]
rs2287512	0.91[ASN][1000 genomes]
rs2357491	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2357492	0.90[ASN][1000 genomes]
rs35833242	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770401	0.81[EUR][1000 genomes]
rs3770410	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770412	0.86[ASN][1000 genomes]
rs3770415	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4361164	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56189833	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66684820	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67073722	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6716301	0.88[ASN][1000 genomes]
rs6760101	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68123661	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7595713	0.82[EUR][1000 genomes]
rs991599	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs994484	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs997644	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53879400-53895600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:53881200-53895800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:53881400-53934400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:53881800-53896400	Weak transcription	Aorta	Aorta
6	chr2:53882600-53888200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:53882600-53894000	Weak transcription	Fetal Stomach	stomach
8	chr2:53882800-53895600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:53883200-53897800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:53883600-53896600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:53885000-53895800	Weak transcription	Dnd41	blood
12	chr2:53885600-53925000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:53885800-53911800	Weak transcription	Adipose Nuclei	Adipose
14	chr2:53886000-53888000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:53886600-53896400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:53887000-53895400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:53887000-53898000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:53887400-53889400	Weak transcription	Psoas Muscle	Psoas

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