Variant report

Variant	rs9917318
Chromosome Location	chr2:36803569-36803570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10175266	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10178965	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10180760	0.89[EUR][1000 genomes]
rs10189554	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10194100	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10197570	0.93[EUR][1000 genomes]
rs10210291	0.85[EUR][1000 genomes]
rs10469897	0.86[EUR][1000 genomes]
rs10469898	0.86[EUR][1000 genomes]
rs11124519	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11686443	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11691600	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11691767	0.95[ASN][1000 genomes]
rs11693359	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12105545	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13029475	0.87[EUR][1000 genomes]
rs13385408	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13398345	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13406169	0.93[EUR][1000 genomes]
rs13406184	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13410783	0.91[EUR][1000 genomes]
rs14291	0.90[EUR][1000 genomes]
rs1523786	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1533946	0.91[EUR][1000 genomes]
rs1533947	0.87[EUR][1000 genomes]
rs1533948	0.91[EUR][1000 genomes]
rs1533949	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17019087	0.90[EUR][1000 genomes]
rs17488036	0.97[EUR][1000 genomes]
rs2022211	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2072533	0.98[EUR][1000 genomes]
rs2072534	0.97[EUR][1000 genomes]
rs2072535	0.87[EUR][1000 genomes]
rs2075226	0.98[EUR][1000 genomes]
rs2110986	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2110987	0.92[EUR][1000 genomes]
rs2160403	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2160404	0.92[EUR][1000 genomes]
rs34392255	0.96[EUR][1000 genomes]
rs34425257	0.97[EUR][1000 genomes]
rs3755196	0.81[EUR][1000 genomes]
rs3770788	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3770797	0.98[EUR][1000 genomes]
rs3770799	0.90[EUR][1000 genomes]
rs3770809	0.91[EUR][1000 genomes]
rs3770811	0.90[EUR][1000 genomes]
rs55700228	0.96[EUR][1000 genomes]
rs57670037	0.87[EUR][1000 genomes]
rs6728602	0.97[EUR][1000 genomes]
rs848610	0.83[EUR][1000 genomes]
rs848611	0.82[EUR][1000 genomes]
rs848612	0.82[EUR][1000 genomes]
rs848613	0.84[EUR][1000 genomes]
rs848614	0.82[EUR][1000 genomes]
rs848616	0.91[EUR][1000 genomes]
rs848619	0.91[EUR][1000 genomes]
rs848624	0.93[EUR][1000 genomes]
rs848627	0.88[EUR][1000 genomes]
rs848629	0.93[EUR][1000 genomes]
rs848630	0.93[EUR][1000 genomes]
rs848631	0.92[EUR][1000 genomes]
rs848635	0.92[EUR][1000 genomes]
rs848636	0.92[EUR][1000 genomes]
rs848638	0.89[EUR][1000 genomes]
rs848639	0.88[EUR][1000 genomes]
rs848640	0.92[EUR][1000 genomes]
rs9917316	0.98[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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36773000-36811200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:36776600-36804800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:36776600-36804800	Weak transcription	Fetal Brain Female	brain
5	chr2:36779400-36805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:36780000-36804800	Weak transcription	Brain Germinal Matrix	brain
7	chr2:36782000-36805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:36783200-36805000	Weak transcription	K562	blood
9	chr2:36783400-36805000	Weak transcription	GM12878-XiMat	blood
10	chr2:36788600-36805200	Weak transcription	Left Ventricle	heart
11	chr2:36789000-36804800	Weak transcription	Fetal Kidney	kidney
12	chr2:36789200-36803800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:36789200-36807000	Weak transcription	Aorta	Aorta
14	chr2:36790200-36818000	Strong transcription	Fetal Intestine Large	intestine
15	chr2:36790400-36806600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:36790800-36812000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:36791000-36807600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:36791200-36804400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:36791200-36805400	Weak transcription	Small Intestine	intestine
20	chr2:36791800-36810400	Weak transcription	Right Atrium	heart
21	chr2:36792000-36806600	Weak transcription	Spleen	Spleen
22	chr2:36792200-36810400	Weak transcription	Colonic Mucosa	Colon
23	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:36792800-36811400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:36793000-36806000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:36793200-36804600	Weak transcription	Right Ventricle	heart
27	chr2:36793200-36806600	Weak transcription	Esophagus	oesophagus
28	chr2:36793200-36811200	Weak transcription	Pancreas	Pancrea
29	chr2:36793200-36816600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr2:36793400-36804800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:36795800-36809600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:36796000-36805000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:36796000-36818000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:36796200-36803800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:36796200-36805400	Weak transcription	Thymus	Thymus
36	chr2:36796200-36807400	Weak transcription	Ovary	ovary
37	chr2:36796800-36818200	Weak transcription	Brain Substantia Nigra	brain
38	chr2:36797000-36803800	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:36797000-36804800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:36797000-36804800	Weak transcription	HSMMtube	muscle
41	chr2:36797000-36805000	Weak transcription	Hela-S3	cervix
42	chr2:36797000-36807400	Weak transcription	Fetal Heart	heart
43	chr2:36797000-36808200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:36797000-36814200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr2:36797600-36808800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:36797800-36805200	Weak transcription	Brain Angular Gyrus	brain
47	chr2:36797800-36813400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:36798000-36809600	Strong transcription	HSMM	muscle
49	chr2:36798000-36818200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:36798200-36818000	Strong transcription	Rectal Mucosa Donor 29	rectum

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