Variant report

Variant	rs2815414
Chromosome Location	chr1:93673947-93673948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93665864..93667749-chr1:93671794..93674252,2	K562	blood:
2	chr1:93672545..93674791-chr1:93676297..93678778,3	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1000606	0.84[EUR][1000 genomes]
rs10430073	0.84[EUR][1000 genomes]
rs10782958	0.85[EUR][1000 genomes]
rs1081523	0.81[AMR][1000 genomes]
rs1081524	0.81[AMR][1000 genomes]
rs1081525	0.83[AMR][1000 genomes]
rs10874765	0.85[EUR][1000 genomes]
rs10874767	0.86[EUR][1000 genomes]
rs10874771	0.85[EUR][1000 genomes]
rs10874775	0.80[EUR][1000 genomes]
rs11164874	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11164878	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11164882	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11164888	0.86[EUR][1000 genomes]
rs11164889	0.86[EUR][1000 genomes]
rs11164890	0.86[EUR][1000 genomes]
rs11164891	0.82[EUR][1000 genomes]
rs11164906	0.84[EUR][1000 genomes]
rs11582703	0.85[EUR][1000 genomes]
rs11584466	0.84[EUR][1000 genomes]
rs11586323	0.81[EUR][1000 genomes]
rs12057476	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12064785	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12066315	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12067005	0.81[EUR][1000 genomes]
rs12070900	0.85[EUR][1000 genomes]
rs12071627	0.85[EUR][1000 genomes]
rs12080715	0.84[EUR][1000 genomes]
rs12085959	0.85[EUR][1000 genomes]
rs12087466	0.83[EUR][1000 genomes]
rs12088338	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12090723	0.85[EUR][1000 genomes]
rs12094547	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12731675	0.85[EUR][1000 genomes]
rs12731809	0.85[EUR][1000 genomes]
rs1323627	0.81[AMR][1000 genomes]
rs1323628	0.80[EUR][1000 genomes]
rs1414367	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1535698	0.85[EUR][1000 genomes]
rs1535700	0.81[EUR][1000 genomes]
rs1570528	0.83[AMR][1000 genomes]
rs17131699	0.84[EUR][1000 genomes]
rs2031223	0.80[EUR][1000 genomes]
rs2031224	0.84[EUR][1000 genomes]
rs2104280	0.83[EUR][1000 genomes]
rs2391227	0.81[EUR][1000 genomes]
rs2484485	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2749735	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2783492	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2783498	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2783506	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2815408	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2815409	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2815410	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2815411	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2815412	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2815413	0.98[EUR][1000 genomes]
rs36057148	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4573531	0.85[EUR][1000 genomes]
rs4847407	0.85[EUR][1000 genomes]
rs4847409	0.84[EUR][1000 genomes]
rs4847411	0.80[EUR][1000 genomes]
rs485622	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs488646	0.84[EUR][1000 genomes]
rs504810	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs505531	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs506556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs508942	0.83[EUR][1000 genomes]
rs512361	0.84[EUR][1000 genomes]
rs519723	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs522999	0.98[EUR][1000 genomes]
rs523262	0.83[EUR][1000 genomes]
rs546	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs556888	0.84[EUR][1000 genomes]
rs55701931	0.81[EUR][1000 genomes]
rs558667	0.84[EUR][1000 genomes]
rs559397	0.85[EUR][1000 genomes]
rs56303209	0.85[EUR][1000 genomes]
rs566743	0.87[EUR][1000 genomes]
rs571212	0.90[EUR][1000 genomes]
rs573056	0.96[EUR][1000 genomes]
rs581825	0.97[EUR][1000 genomes]
rs587754	0.85[EUR][1000 genomes]
rs605759	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs615416	0.98[EUR][1000 genomes]
rs626714	0.86[EUR][1000 genomes]
rs628714	0.85[EUR][1000 genomes]
rs629153	0.89[EUR][1000 genomes]
rs631966	0.84[EUR][1000 genomes]
rs633789	0.84[EUR][1000 genomes]
rs637198	0.86[EUR][1000 genomes]
rs641390	0.83[EUR][1000 genomes]
rs6541351	0.80[EUR][1000 genomes]
rs6541400	0.84[EUR][1000 genomes]
rs658178	0.86[EUR][1000 genomes]
rs658877	0.98[EUR][1000 genomes]
rs661566	0.89[EUR][1000 genomes]
rs662546	0.89[EUR][1000 genomes]
rs6657587	0.86[EUR][1000 genomes]
rs6664886	0.81[EUR][1000 genomes]
rs6667701	0.86[EUR][1000 genomes]
rs667680	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6687359	0.84[EUR][1000 genomes]
rs668944	0.85[EUR][1000 genomes]
rs670650	0.87[EUR][1000 genomes]
rs671559	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs693872	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71510760	0.81[EUR][1000 genomes]
rs7413775	0.84[EUR][1000 genomes]
rs7519163	0.84[EUR][1000 genomes]
rs7525189	0.84[EUR][1000 genomes]
rs7546661	0.83[AMR][1000 genomes]
rs7551635	0.85[EUR][1000 genomes]
rs7555292	0.85[EUR][1000 genomes]
rs771456	0.83[AMR][1000 genomes]
rs771464	0.80[EUR][1000 genomes]
rs771467	0.83[AMR][1000 genomes]
rs771468	0.83[AMR][1000 genomes]
rs771469	0.83[AMR][1000 genomes]
rs771471	0.83[AMR][1000 genomes]
rs771475	0.83[AMR][1000 genomes]
rs771477	0.83[AMR][1000 genomes]
rs797660	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs797669	0.88[EUR][1000 genomes]
rs809515	0.90[EUR][1000 genomes]
rs810028	0.83[AMR][1000 genomes]
rs812789	0.83[AMR][1000 genomes]
rs9432680	0.84[EUR][1000 genomes]
rs9432700	0.85[EUR][1000 genomes]
rs9432701	0.84[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	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2815414	RP4-717I23.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2815414	TMED5	Cis_1M	lymphoblastoid	RTeQTL
rs2815414	RP4-717I23.3	cis	Adipose Subcutaneous	GTEx
rs2815414	RP4-717I23.3	cis	Muscle Skeletal	GTEx
rs2815414	RP4-717I23.3	cis	lung	GTEx
rs2815414	RP4-717I23.3	cis	Esophagus Muscularis	GTEx
rs2815414	RP4-717I23.3	cis	Whole Blood	GTEx
rs2815414	RP4-717I23.3	cis	Thyroid	GTEx
rs2815414	RP4-717I23.3	cis	Stomach	GTEx
rs2815414	RP4-717I23.3	cis	Artery Tibial	GTEx
rs2815414	RP4-717I23.3	cis	Nerve Tibial	GTEx
rs2815414	RP4-717I23.3	cis	Artery Aorta	GTEx
rs2815414	RP4-717I23.3	cis	Esophagus Mucosa	GTEx
rs2815414	RP4-717I23.3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93688000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:93647000-93688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:93647000-93756400	Weak transcription	Gastric	stomach
4	chr1:93647200-93681200	Weak transcription	HUVEC	blood vessel
5	chr1:93647200-93684400	Weak transcription	NH-A	brain
6	chr1:93647200-93685000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:93647200-93707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:93647600-93706600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:93649000-93684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:93651000-93684800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:93651400-93678000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:93654200-93708400	Weak transcription	Esophagus	oesophagus
14	chr1:93654600-93708000	Weak transcription	Ovary	ovary
15	chr1:93655200-93674000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:93656400-93686200	Weak transcription	Aorta	Aorta
17	chr1:93657000-93682000	Strong transcription	Dnd41	blood
18	chr1:93657600-93708400	Weak transcription	Left Ventricle	heart
19	chr1:93658600-93684800	Weak transcription	Primary T cells from cord blood	blood
20	chr1:93658800-93684400	Weak transcription	Osteobl	bone
21	chr1:93660600-93705200	Weak transcription	Lung	lung
22	chr1:93660800-93685000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:93661000-93674200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:93661400-93708200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:93661800-93702800	Weak transcription	Fetal Heart	heart
26	chr1:93661800-93708200	Weak transcription	Fetal Brain Female	brain
27	chr1:93663600-93705600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:93665400-93684200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:93665400-93684400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:93665400-93685000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:93665400-93688800	Weak transcription	NHLF	lung
32	chr1:93665400-93708400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:93665400-93708400	Weak transcription	Spleen	Spleen
34	chr1:93665600-93683000	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:93665600-93697600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:93665600-93702600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:93665600-93707800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:93665800-93674000	Weak transcription	Fetal Stomach	stomach
39	chr1:93665800-93684200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:93665800-93684400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:93665800-93693200	Weak transcription	Fetal Intestine Small	intestine
42	chr1:93665800-93706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:93665800-93707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:93666200-93684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:93666800-93675800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:93667400-93674000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:93667400-93675600	Strong transcription	Fetal Thymus	thymus
49	chr1:93667400-93687600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:93667400-93695400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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