Variant report

Variant	rs1815100
Chromosome Location	chr7:66625067-66625068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10155890	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10155918	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10155972	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10155983	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10156209	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10234493	0.81[ASN][1000 genomes]
rs10235588	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10243013	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10243217	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10250113	0.86[ASN][1000 genomes]
rs10250487	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10251763	0.87[ASN][1000 genomes]
rs10252143	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10253339	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10256139	0.87[ASN][1000 genomes]
rs10257949	0.87[ASN][1000 genomes]
rs10262150	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10262781	0.82[ASN][1000 genomes]
rs10267300	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10270292	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10272347	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10272591	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10274305	0.81[ASN][1000 genomes]
rs10280699	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11764376	0.82[ASN][1000 genomes]
rs11770086	0.84[ASN][1000 genomes]
rs11772455	0.82[ASN][1000 genomes]
rs11773012	0.86[ASN][1000 genomes]
rs11773274	0.82[ASN][1000 genomes]
rs11773730	0.82[ASN][1000 genomes]
rs12154409	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12154419	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12155044	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12155051	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13225639	0.82[ASN][1000 genomes]
rs13229085	0.82[ASN][1000 genomes]
rs1815098	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1815099	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1880278	0.82[ASN][1000 genomes]
rs2421404	0.82[ASN][1000 genomes]
rs2421405	0.80[ASN][1000 genomes]
rs2421419	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2690170	0.80[ASN][1000 genomes]
rs28366417	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844157	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2844170	0.80[ASN][1000 genomes]
rs28534521	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28620117	0.82[ASN][1000 genomes]
rs28651697	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28715521	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28888421	0.84[ASN][1000 genomes]
rs2901425	0.82[ASN][1000 genomes]
rs3015884	0.83[ASN][1000 genomes]
rs3107871	0.82[AMR][1000 genomes]
rs34145691	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34317556	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34344363	0.84[AMR][1000 genomes]
rs34654147	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35048638	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35470341	0.82[ASN][1000 genomes]
rs35713607	0.80[EUR][1000 genomes]
rs36108108	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3962076	0.87[ASN][1000 genomes]
rs3980767	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3980775	0.82[ASN][1000 genomes]
rs4083135	0.82[ASN][1000 genomes]
rs4101640	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4145350	0.82[ASN][1000 genomes]
rs4295533	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4377841	0.83[ASN][1000 genomes]
rs4382353	0.86[ASN][1000 genomes]
rs4436004	0.83[ASN][1000 genomes]
rs4551224	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4552791	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4618581	0.87[ASN][1000 genomes]
rs4621684	0.87[ASN][1000 genomes]
rs4717353	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4718463	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4718464	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718469	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718470	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718471	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67855845	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6952309	0.82[ASN][1000 genomes]
rs6966142	0.82[ASN][1000 genomes]
rs6972762	0.81[ASN][1000 genomes]
rs6972777	0.81[ASN][1000 genomes]
rs6978789	0.85[ASN][1000 genomes]
rs71535637	0.86[ASN][1000 genomes]
rs71535638	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73140581	0.81[ASN][1000 genomes]
rs73140602	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73142604	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7350000	0.80[ASN][1000 genomes]
rs7350002	0.86[ASN][1000 genomes]
rs7350057	0.86[ASN][1000 genomes]
rs7779596	0.80[ASN][1000 genomes]
rs7780700	0.82[ASN][1000 genomes]
rs7781804	0.82[ASN][1000 genomes]
rs7783513	0.81[ASN][1000 genomes]
rs7792212	0.84[ASN][1000 genomes]
rs7793101	0.84[ASN][1000 genomes]
rs7793104	0.82[ASN][1000 genomes]
rs7796133	0.84[ASN][1000 genomes]
rs7804802	0.83[AMR][1000 genomes]
rs9654771	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9654851	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9654853	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9654854	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9690120	0.82[ASN][1000 genomes]
rs9690121	0.82[ASN][1000 genomes]
rs9690145	0.82[ASN][1000 genomes]
rs9690839	0.81[ASN][1000 genomes]
rs9692192	0.81[ASN][1000 genomes]
rs9692303	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
4	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases
5	esv1802655	chr7:66576034-66634666	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	esv1816643	chr7:66576034-66634666	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	esv1840497	chr7:66576034-66634666	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	esv1851064	chr7:66576034-66634666	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	esv1850306	chr7:66601324-66632583	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
10	esv1832033	chr7:66601324-66637001	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv1822512	chr7:66613751-66637001	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv1826252	chr7:66613751-66637001	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv1810114	chr7:66621964-66636410	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
14	esv2422035	chr7:66621964-66676630	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1815100	TYW1	Cis_1M	lymphoblastoid	RTeQTL
rs1815100	TYW1	cis	Esophagus Mucosa	GTEx
rs1815100	TYW1	cis	Heart Left Ventricle	GTEx
rs1815100	TYW1	cis	Nerve Tibial	GTEx
rs1815100	TYW1	cis	Muscle Skeletal	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66585200-66627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:66591600-66626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:66594800-66626800	Weak transcription	Dnd41	blood
4	chr7:66595000-66627400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:66603200-66626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:66608800-66628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:66608800-66632600	Weak transcription	Ovary	ovary
8	chr7:66612400-66627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:66613200-66626400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:66614200-66628000	Weak transcription	K562	blood
11	chr7:66616000-66626800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:66617200-66628200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:66617200-66628400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:66617400-66627400	Weak transcription	Primary T cells from cord blood	blood
15	chr7:66619400-66627600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:66619600-66626800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:66619600-66628000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:66620600-66631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:66620800-66628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:66621000-66628200	Weak transcription	Thymus	Thymus
21	chr7:66621400-66628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:66621400-66631400	Weak transcription	Adipose Nuclei	Adipose
23	chr7:66621600-66628400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
25	chr7:66621800-66627200	Weak transcription	Fetal Stomach	stomach
26	chr7:66621800-66628200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:66623400-66627600	Weak transcription	Fetal Intestine Small	intestine
28	chr7:66625000-66625800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:66625000-66625800	Enhancers	Left Ventricle	heart

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