Variant report

Variant	rs4377841
Chromosome Location	chr7:66623657-66623658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 203 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:189)

rs_ID	r²[population]
rs10155890	0.82[ASN][1000 genomes]
rs10155918	0.88[ASN][1000 genomes]
rs10155972	0.88[ASN][1000 genomes]
rs10155983	0.86[ASN][1000 genomes]
rs10156209	0.86[ASN][1000 genomes]
rs10215275	0.86[EUR][1000 genomes]
rs10227884	0.83[EUR][1000 genomes]
rs10228714	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10231586	0.81[ASN][1000 genomes]
rs10232929	0.83[EUR][1000 genomes]
rs10233035	0.83[EUR][1000 genomes]
rs10233183	0.81[EUR][1000 genomes]
rs10233967	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10234493	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10234596	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10235308	0.84[EUR][1000 genomes]
rs10235588	0.86[ASN][1000 genomes]
rs10240501	0.83[EUR][1000 genomes]
rs10242919	0.83[EUR][1000 genomes]
rs10243013	0.83[ASN][1000 genomes]
rs10243217	0.82[ASN][1000 genomes]
rs10246747	0.81[ASN][1000 genomes]
rs10248146	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10248168	0.81[EUR][1000 genomes]
rs10250113	0.84[ASN][1000 genomes]
rs10250487	0.86[ASN][1000 genomes]
rs10250751	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10251763	0.84[ASN][1000 genomes]
rs10252143	0.84[ASN][1000 genomes]
rs10253339	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10256139	0.84[ASN][1000 genomes]
rs10257949	0.84[ASN][1000 genomes]
rs10262150	0.82[ASN][1000 genomes]
rs10262781	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10267300	0.84[ASN][1000 genomes]
rs10269534	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10270292	0.83[ASN][1000 genomes]
rs10271230	0.83[EUR][1000 genomes]
rs10271388	0.83[EUR][1000 genomes]
rs10272347	0.84[ASN][1000 genomes]
rs10272591	0.84[ASN][1000 genomes]
rs10273294	0.83[EUR][1000 genomes]
rs10274048	0.80[EUR][1000 genomes]
rs10274165	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10274305	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10274443	0.83[EUR][1000 genomes]
rs10274580	0.81[EUR][1000 genomes]
rs10274725	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10277094	0.83[EUR][1000 genomes]
rs11761640	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11763486	0.86[EUR][1000 genomes]
rs11765279	0.83[EUR][1000 genomes]
rs11765283	0.81[EUR][1000 genomes]
rs11765481	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11769413	0.86[EUR][1000 genomes]
rs11769745	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11770086	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11771227	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11773012	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11773691	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12154419	0.81[ASN][1000 genomes]
rs12155044	0.82[ASN][1000 genomes]
rs12155051	0.84[ASN][1000 genomes]
rs13222233	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13222367	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13225639	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13229085	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13438033	0.83[EUR][1000 genomes]
rs1815098	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1815099	0.81[ASN][1000 genomes]
rs1815100	0.83[ASN][1000 genomes]
rs1829931	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1880278	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2140564	0.83[EUR][1000 genomes]
rs2140565	0.83[EUR][1000 genomes]
rs2421419	0.82[ASN][1000 genomes]
rs2690147	0.85[EUR][1000 genomes]
rs28366417	0.84[ASN][1000 genomes]
rs28373802	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2844157	0.81[ASN][1000 genomes]
rs2844170	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28465142	0.87[EUR][1000 genomes]
rs28534521	0.84[ASN][1000 genomes]
rs28620117	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28651697	0.84[ASN][1000 genomes]
rs28715521	0.86[ASN][1000 genomes]
rs28813778	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28888140	0.83[EUR][1000 genomes]
rs28888421	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2901425	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2960982	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3015884	0.81[ASN][1000 genomes]
rs34145691	0.84[ASN][1000 genomes]
rs34654147	0.84[ASN][1000 genomes]
rs34762791	0.90[EUR][1000 genomes]
rs35048638	0.84[ASN][1000 genomes]
rs35122750	0.86[EUR][1000 genomes]
rs35408354	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35470341	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35856213	0.85[EUR][1000 genomes]
rs36108108	0.84[ASN][1000 genomes]
rs3857691	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3962076	0.84[ASN][1000 genomes]
rs3980757	0.81[EUR][1000 genomes]
rs3980767	0.84[ASN][1000 genomes]
rs4083135	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4101640	0.84[ASN][1000 genomes]
rs4295533	0.82[ASN][1000 genomes]
rs4382353	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4436004	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4551224	0.84[ASN][1000 genomes]
rs4552791	0.81[ASN][1000 genomes]
rs4593419	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4618581	0.84[ASN][1000 genomes]
rs4621684	0.84[ASN][1000 genomes]
rs4717353	0.84[ASN][1000 genomes]
rs4718463	0.84[ASN][1000 genomes]
rs4718464	0.88[ASN][1000 genomes]
rs4718469	0.86[ASN][1000 genomes]
rs4718470	0.82[ASN][1000 genomes]
rs4718471	0.82[ASN][1000 genomes]
rs55647442	0.83[EUR][1000 genomes]
rs55704136	0.82[EUR][1000 genomes]
rs55829112	0.86[EUR][1000 genomes]
rs55849420	0.83[EUR][1000 genomes]
rs56166786	0.83[EUR][1000 genomes]
rs56307114	0.83[EUR][1000 genomes]
rs58440009	0.82[EUR][1000 genomes]
rs58448907	0.80[EUR][1000 genomes]
rs59734986	0.83[EUR][1000 genomes]
rs6460325	0.86[EUR][1000 genomes]
rs6460326	0.86[EUR][1000 genomes]
rs6460327	0.86[EUR][1000 genomes]
rs6460328	0.86[EUR][1000 genomes]
rs6460329	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6460330	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66744554	0.85[EUR][1000 genomes]
rs66755920	0.83[EUR][1000 genomes]
rs66908665	0.86[EUR][1000 genomes]
rs67855845	0.84[ASN][1000 genomes]
rs6948003	0.84[AMR][1000 genomes]
rs6948008	0.85[AMR][1000 genomes]
rs6949104	0.87[EUR][1000 genomes]
rs6950847	0.82[EUR][1000 genomes]
rs6952309	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6958165	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6958481	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6966142	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6972762	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6972777	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6978418	0.86[EUR][1000 genomes]
rs6978789	0.88[ASN][1000 genomes]
rs6978918	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71523750	0.83[EUR][1000 genomes]
rs71535637	0.84[ASN][1000 genomes]
rs71535638	0.86[ASN][1000 genomes]
rs71563164	0.83[EUR][1000 genomes]
rs71563165	0.83[EUR][1000 genomes]
rs71563168	0.87[EUR][1000 genomes]
rs73140561	0.84[ASN][1000 genomes]
rs73140602	0.84[ASN][1000 genomes]
rs73142604	0.84[ASN][1000 genomes]
rs7350000	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7350002	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7350057	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7779596	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7783513	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7791271	0.85[EUR][1000 genomes]
rs7792212	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7793101	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7793104	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7794130	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7796133	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7797608	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7809649	0.85[EUR][1000 genomes]
rs7811122	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7811268	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9654771	0.84[ASN][1000 genomes]
rs9654851	0.86[ASN][1000 genomes]
rs9654853	0.84[ASN][1000 genomes]
rs9654854	0.84[ASN][1000 genomes]
rs9690120	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9690121	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9690145	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9690291	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9690839	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9692120	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9692192	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9692303	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4377841	TYW1	cis	Nerve Tibial	GTEx
rs4377841	TYW1	cis	Muscle Skeletal	GTEx
rs4377841	TYW1	Cis_1M	lymphoblastoid	RTeQTL
rs4377841	STAG3L4	cis	Nerve Tibial	GTEx
rs4377841	TYW1	cis	Esophagus Mucosa	GTEx
rs4377841	TYW1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:66584400-66624400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:66585200-66627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:66591600-66626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:66594200-66623800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:66594800-66626800	Weak transcription	Dnd41	blood
7	chr7:66595000-66627400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:66600800-66625000	Weak transcription	Left Ventricle	heart
9	chr7:66603200-66626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:66604600-66624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:66608800-66628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:66608800-66632600	Weak transcription	Ovary	ovary
13	chr7:66609800-66624400	Weak transcription	Liver	Liver
14	chr7:66612400-66627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:66613200-66626400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:66614200-66628000	Weak transcription	K562	blood
17	chr7:66616000-66626800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:66617200-66628200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:66617200-66628400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:66617400-66627400	Weak transcription	Primary T cells from cord blood	blood
21	chr7:66619400-66627600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:66619600-66626800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:66619600-66628000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:66620600-66631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:66620800-66628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:66621000-66628200	Weak transcription	Thymus	Thymus
27	chr7:66621400-66628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:66621400-66631400	Weak transcription	Adipose Nuclei	Adipose
29	chr7:66621600-66625000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:66621600-66628400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
32	chr7:66621800-66627200	Weak transcription	Fetal Stomach	stomach
33	chr7:66621800-66628200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:66623400-66627600	Weak transcription	Fetal Intestine Small	intestine

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