Variant report

Variant	rs12416171
Chromosome Location	chr10:27050961-27050962
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27050329..27053574-chr10:27053805..27057713,4	K562	blood:
2	chr10:27050958..27053361-chr10:27064664..27066891,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11015265	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12413383	0.94[AFR][1000 genomes]
rs16927314	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16927324	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16927334	0.90[AFR][1000 genomes]
rs35175791	0.89[AFR][1000 genomes]
rs35531360	0.89[AFR][1000 genomes]
rs5010875	0.88[AFR][1000 genomes]
rs6482574	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7091364	0.93[AFR][1000 genomes]
rs7092571	0.94[AFR][1000 genomes]
rs7092950	0.91[AFR][1000 genomes]
rs7094825	0.94[AFR][1000 genomes]
rs7096584	0.97[AFR][1000 genomes]
rs7923912	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv933544	chr10:27005220-27111998	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:26997600-27054400	Weak transcription	Fetal Brain Male	brain
3	chr10:27021600-27069600	Weak transcription	Esophagus	oesophagus
4	chr10:27023400-27057800	Weak transcription	Gastric	stomach
5	chr10:27023400-27070000	Weak transcription	Pancreas	Pancrea
6	chr10:27025000-27054200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr10:27025600-27069600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:27025800-27068200	Weak transcription	Spleen	Spleen
9	chr10:27025800-27070800	Weak transcription	Aorta	Aorta
10	chr10:27026000-27069600	Weak transcription	Brain Angular Gyrus	brain
11	chr10:27027400-27069400	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:27027800-27069600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:27028200-27068600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:27028400-27069800	Weak transcription	NHLF	lung
15	chr10:27028600-27051600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr10:27028600-27062200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:27029600-27051200	Weak transcription	Brain Anterior Caudate	brain
18	chr10:27029800-27069600	Weak transcription	HSMMtube	muscle
19	chr10:27032000-27068200	Weak transcription	Small Intestine	intestine
20	chr10:27032000-27069600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:27032400-27069400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:27032400-27069600	Weak transcription	Lung	lung
23	chr10:27032600-27053400	Weak transcription	Left Ventricle	heart
24	chr10:27032600-27069800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:27032800-27060600	Weak transcription	Brain Substantia Nigra	brain
26	chr10:27033200-27064000	Weak transcription	HepG2	liver
27	chr10:27033600-27051000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:27033600-27069200	Weak transcription	Psoas Muscle	Psoas
29	chr10:27034000-27056400	Weak transcription	Fetal Brain Female	brain
30	chr10:27034000-27061800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:27034000-27069000	Weak transcription	Colonic Mucosa	Colon
32	chr10:27034000-27069600	Weak transcription	Ovary	ovary
33	chr10:27034000-27069800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:27034400-27069600	Weak transcription	Right Ventricle	heart
35	chr10:27034600-27057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr10:27035600-27060400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:27036600-27053200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:27036800-27068400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:27037400-27062200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:27040000-27059200	Weak transcription	Brain Germinal Matrix	brain
41	chr10:27040800-27051200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:27040800-27052800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr10:27040800-27053600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:27040800-27060800	Weak transcription	Fetal Muscle Leg	muscle
45	chr10:27043800-27057400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:27044800-27051200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr10:27044800-27057600	Weak transcription	NHEK	skin
48	chr10:27044800-27062600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:27044800-27064800	Weak transcription	HMEC	breast
50	chr10:27044800-27068000	Weak transcription	K562	blood

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