Variant report

Variant	rs12253177
Chromosome Location	chr10:94326819-94326820
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94318341..94320478-chr10:94326685..94328653,2	K562	blood:
2	chr10:94318151..94320478-chr10:94326427..94328185,3	K562	blood:
3	chr10:94323647..94325408-chr10:94326611..94328979,2	K562	blood:
4	chr10:94318633..94321583-chr10:94326372..94328999,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11187066	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258487	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262994	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264361	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264682	0.88[AFR][1000 genomes]
rs12266443	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875329	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875332	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875344	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875345	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875346	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875347	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275218	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2275220	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421942	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737225	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57299222	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74151643	0.88[AFR][1000 genomes]
rs74151654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151657	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151659	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151667	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151672	0.92[EUR][1000 genomes];1.00[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	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
2	chr10:94272200-94332000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:94272200-94332200	Weak transcription	Gastric	stomach
4	chr10:94277200-94331200	Weak transcription	Stomach Mucosa	stomach
5	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:94304600-94331400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:94313800-94327000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:94314200-94327200	Weak transcription	Brain Anterior Caudate	brain
9	chr10:94314200-94328800	Weak transcription	NHLF	lung
10	chr10:94314200-94331000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:94314200-94331200	Weak transcription	Brain Substantia Nigra	brain
12	chr10:94314200-94331200	Weak transcription	Small Intestine	intestine
13	chr10:94314200-94331400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr10:94314200-94331400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:94314200-94331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr10:94314200-94332000	Weak transcription	Colonic Mucosa	Colon
17	chr10:94314400-94327800	Weak transcription	NHDF-Ad	bronchial
18	chr10:94314400-94331000	Weak transcription	Psoas Muscle	Psoas
19	chr10:94314400-94331200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr10:94314400-94331600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:94314400-94332200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr10:94314400-94332400	Weak transcription	Aorta	Aorta
23	chr10:94314400-94332400	Weak transcription	Lung	lung
24	chr10:94314600-94331200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:94315000-94331200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr10:94315200-94331200	Weak transcription	Brain Angular Gyrus	brain
27	chr10:94315600-94327600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr10:94315600-94327600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:94316000-94327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr10:94316600-94331400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr10:94317400-94331200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr10:94317600-94332200	Weak transcription	Fetal Thymus	thymus
33	chr10:94318000-94331200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:94318000-94332000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr10:94319000-94331200	Weak transcription	Right Ventricle	heart
36	chr10:94319200-94327600	Weak transcription	Osteobl	bone
37	chr10:94319400-94327600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr10:94319400-94327600	Weak transcription	NH-A	brain
39	chr10:94319400-94331600	Weak transcription	HSMMtube	muscle
40	chr10:94319400-94332200	Weak transcription	Fetal Kidney	kidney
41	chr10:94319600-94331200	Weak transcription	Fetal Lung	lung
42	chr10:94319800-94332000	Weak transcription	Brain Germinal Matrix	brain
43	chr10:94320200-94327200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr10:94320200-94330200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:94320200-94331800	Weak transcription	Brain Hippocampus Middle	brain
46	chr10:94320400-94327200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr10:94320400-94327400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:94320400-94327600	Weak transcription	HUVEC	blood vessel
49	chr10:94320400-94331400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:94320400-94331400	Weak transcription	Primary T cells fromperipheralblood	blood

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