Variant report

Variant	rs10506143
Chromosome Location	chr12:40454645-40454646
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40454480..40456141-chr12:40458751..40460904,2	K562	blood:
2	chr12:40442565..40445105-chr12:40454230..40455895,2	K562	blood:
3	chr12:40454110..40455727-chr12:40462152..40463855,2	K562	blood:

Variant related genes	Relation type
ENSG00000229014	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10506144	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10506146	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs10878244	1.00[JPT][hapmap]
rs11174631	0.81[AMR][1000 genomes]
rs11174697	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11175186	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11564108	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11564117	0.86[AMR][1000 genomes]
rs11564123	1.00[JPT][hapmap]
rs11564131	1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11564153	1.00[JPT][hapmap]
rs11564187	1.00[JPT][hapmap]
rs11564190	1.00[EUR][1000 genomes]
rs11564196	1.00[JPT][hapmap]
rs11564199	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11564210	1.00[JPT][hapmap]
rs11564214	0.81[AMR][1000 genomes]
rs11564216	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11564218	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12422544	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12422796	1.00[JPT][hapmap]
rs12424040	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12424294	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12425561	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12425630	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426378	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12426643	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12427022	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1388585	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs1388597	1.00[JPT][hapmap]
rs1463717	1.00[JPT][hapmap]
rs1491945	0.82[AMR][1000 genomes]
rs17458549	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17458808	0.83[AMR][1000 genomes]
rs17461387	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17461692	1.00[EUR][1000 genomes]
rs17483919	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17484141	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2131081	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28365169	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28365173	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28365206	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28365689	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28370664	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28370682	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28370830	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4767961	0.92[AMR][1000 genomes]
rs4767962	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4767964	1.00[EUR][1000 genomes]
rs4768206	0.81[AMR][1000 genomes]
rs4768213	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs729215	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[ASN][1000 genomes]

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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40449200-40457000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:40451200-40455000	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:40452000-40458600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:40452800-40460000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:40453000-40455600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:40453000-40457000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:40453000-40457400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:40453200-40456600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:40453200-40457200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:40453400-40454800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:40453400-40455200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:40453400-40459600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:40453600-40457000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:40453600-40459400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:40453800-40457400	Weak transcription	Brain Germinal Matrix	brain
16	chr12:40453800-40487400	Weak transcription	Left Ventricle	heart
17	chr12:40454200-40457000	Weak transcription	Stomach Smooth Muscle	stomach

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