Variant report

Variant	rs34979288
Chromosome Location	chr1:47821315-47821316
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	chr1:47801557..47803991-chr1:47820386..47821955,2	K562	blood:
2	chr1:47813531..47815112-chr1:47820562..47822272,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10157734	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890480	0.80[ASN][1000 genomes]
rs11211489	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211490	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211492	0.86[ASN][1000 genomes]
rs11211495	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211500	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211505	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211512	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211516	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211526	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211533	0.80[ASN][1000 genomes]
rs11576796	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11577236	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577960	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11578360	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11579854	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580114	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11580148	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11583162	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11584518	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587014	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11587107	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11587272	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065137	0.80[ASN][1000 genomes]
rs12080109	0.80[ASN][1000 genomes]
rs12117686	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118205	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12118206	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12123269	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123358	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12129259	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129594	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12131978	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12132521	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132909	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12134888	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135037	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139700	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140580	0.82[EUR][1000 genomes]
rs12143808	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12144920	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12145103	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145974	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12184262	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12184269	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12184297	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12406951	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12407463	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12409300	0.82[EUR][1000 genomes]
rs12410850	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729251	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12735320	0.80[ASN][1000 genomes]
rs12738065	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12749507	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751405	0.80[ASN][1000 genomes]
rs12751618	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756634	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12757893	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12759377	0.86[ASN][1000 genomes]
rs13374382	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13376679	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1572546	0.80[ASN][1000 genomes]
rs17103095	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17103168	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17370386	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17378887	0.93[ASN][1000 genomes]
rs2405787	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2622903	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2622914	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2820986	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2897238	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs33980430	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34192192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35234940	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35601384	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35856603	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs36054263	0.86[ASN][1000 genomes]
rs4480403	0.80[ASN][1000 genomes]
rs4481897	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926840	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56804458	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58891696	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60352530	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660651	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6688323	0.80[EUR][1000 genomes]
rs6688804	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6691723	0.80[ASN][1000 genomes]
rs6698471	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6698717	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67221389	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67295054	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67905093	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72686209	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7354822	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7415976	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525802	0.80[ASN][1000 genomes]
rs7528075	0.86[ASN][1000 genomes]
rs7534328	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548099	0.86[ASN][1000 genomes]
rs9725517	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	nsv945737	chr1:47818194-47830776	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34979288	STIL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47800400-47834600	Weak transcription	Spleen	Spleen
2	chr1:47800600-47834400	Weak transcription	Gastric	stomach
3	chr1:47800600-47854600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47801000-47834000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:47801000-47834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:47801000-47834200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:47801000-47834200	Weak transcription	Thymus	Thymus
8	chr1:47801000-47838200	Weak transcription	NHDF-Ad	bronchial
9	chr1:47801000-47850800	Weak transcription	NHEK	skin
10	chr1:47801200-47821400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:47801200-47823400	Weak transcription	Psoas Muscle	Psoas
12	chr1:47801200-47834000	Weak transcription	HMEC	breast
13	chr1:47801200-47834200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:47801200-47834200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:47801200-47834200	Weak transcription	Fetal Brain Female	brain
16	chr1:47801200-47834400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:47801200-47834600	Weak transcription	HSMMtube	muscle
18	chr1:47801200-47834600	Weak transcription	NHLF	lung
19	chr1:47801200-47839000	Weak transcription	Right Ventricle	heart
20	chr1:47801400-47834200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:47801800-47834200	Weak transcription	Placenta	Placenta
22	chr1:47802000-47834200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:47802200-47834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:47802400-47821800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:47802400-47830400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:47802400-47834200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:47802600-47823800	Weak transcription	Left Ventricle	heart
28	chr1:47802600-47834000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:47802600-47834200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:47802600-47834200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:47804000-47834000	Weak transcription	Dnd41	blood
32	chr1:47804200-47834200	Weak transcription	HUVEC	blood vessel
33	chr1:47804200-47834800	Weak transcription	Fetal Lung	lung
34	chr1:47805000-47834000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:47805000-47834200	Weak transcription	Adipose Nuclei	Adipose
36	chr1:47805600-47830600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:47807200-47834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:47809800-47834200	Weak transcription	Fetal Intestine Large	intestine
39	chr1:47810000-47834200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:47812200-47834000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:47812200-47836800	Weak transcription	NH-A	brain
42	chr1:47813000-47823400	Weak transcription	Stomach Mucosa	stomach
43	chr1:47813600-47834400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:47813800-47823200	Weak transcription	HepG2	liver
45	chr1:47814000-47834200	Weak transcription	Liver	Liver
46	chr1:47814400-47823200	Weak transcription	Pancreas	Pancrea
47	chr1:47814400-47834200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:47814400-47834200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:47814800-47830600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:47814800-47850600	Weak transcription	Aorta	Aorta

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