Variant report

Variant	rs12357123
Chromosome Location	chr10:18809737-18809738
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:18809597..18811635-chr10:18812630..18814429,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10828973	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11014520	1.00[AMR][1000 genomes]
rs11014582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11014594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11014660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11014696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11014721	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11014733	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11014797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11014800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11014805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11014825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11014831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11014961	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11014985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11014990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015001	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015020	0.94[EUR][1000 genomes]
rs11015022	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015033	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015034	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015046	0.94[EUR][1000 genomes]
rs11015060	0.94[EUR][1000 genomes]
rs11015065	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015066	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11015089	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11015091	0.89[EUR][1000 genomes]
rs11015100	0.89[EUR][1000 genomes]
rs11015104	0.89[EUR][1000 genomes]
rs11015180	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11015185	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11015366	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11015514	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11015519	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11015533	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11015540	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11015592	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11492557	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11511205	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11516859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12354739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12355360	0.89[AMR][1000 genomes]
rs12355664	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12355670	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12356125	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12356280	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12356286	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12356533	1.00[EUR][1000 genomes]
rs12357063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12357491	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12358173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12360352	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17620201	0.89[AMR][1000 genomes]
rs17622004	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17622211	0.89[EUR][1000 genomes]
rs17622520	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4279920	0.89[EUR][1000 genomes]
rs4466722	0.88[EUR][1000 genomes]
rs4497294	0.94[EUR][1000 genomes]
rs45452100	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4570480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][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	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1042073	chr10:18806900-18838303	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18776200-18812200	Weak transcription	Right Atrium	heart
2	chr10:18778600-18818200	Weak transcription	Fetal Intestine Small	intestine
3	chr10:18787400-18810200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:18792400-18825400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr10:18794000-18818400	Weak transcription	Fetal Brain Male	brain
6	chr10:18799800-18825200	Weak transcription	Colonic Mucosa	Colon
7	chr10:18800200-18826800	Weak transcription	Brain Substantia Nigra	brain
8	chr10:18800400-18827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:18800800-18818800	Weak transcription	Brain Germinal Matrix	brain
10	chr10:18800800-18819400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:18801000-18818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr10:18801200-18809800	Weak transcription	Brain Angular Gyrus	brain
13	chr10:18802000-18825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:18802600-18828000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr10:18802600-18828200	Weak transcription	Lung	lung
16	chr10:18803600-18810000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:18806800-18811200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:18807200-18810600	Strong transcription	Aorta	Aorta
19	chr10:18807200-18810800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr10:18807200-18811000	Strong transcription	Ovary	ovary
21	chr10:18807200-18811000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr10:18807200-18826800	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:18807400-18811000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:18807400-18811200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:18807400-18828000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:18807600-18816400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr10:18807600-18818800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:18807800-18809800	Strong transcription	Fetal Stomach	stomach
29	chr10:18807800-18811000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr10:18807800-18811200	Strong transcription	Fetal Lung	lung
31	chr10:18808000-18810800	Strong transcription	Left Ventricle	heart
32	chr10:18808000-18828000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:18808200-18810400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:18808400-18810400	Strong transcription	Colon Smooth Muscle	Colon
35	chr10:18808400-18811000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:18808400-18811000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr10:18808400-18827000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr10:18808600-18810800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr10:18808600-18811400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:18808800-18811200	Strong transcription	Fetal Intestine Large	intestine
41	chr10:18808800-18825400	Weak transcription	Fetal Brain Female	brain
42	chr10:18809000-18824000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:18809000-18827000	Weak transcription	Small Intestine	intestine
44	chr10:18809200-18810000	Strong transcription	Pancreatic Islets	Pancreatic Islet
45	chr10:18809200-18819000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr10:18809400-18809800	Strong transcription	Pancreas	Pancrea
47	chr10:18809400-18810400	Strong transcription	Right Ventricle	heart
48	chr10:18809400-18812000	Weak transcription	Brain Anterior Caudate	brain
49	chr10:18809400-18812400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:18809400-18812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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