Variant report

Variant	rs14318
Chromosome Location	chr7:66612637-66612638
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10215275	0.82[EUR][1000 genomes]
rs10228489	0.82[AFR][1000 genomes]
rs10228714	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10233967	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10234493	0.81[AMR][1000 genomes]
rs10235308	0.81[EUR][1000 genomes]
rs10250751	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10262781	0.85[EUR][1000 genomes]
rs10269534	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10274165	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10274305	0.82[EUR][1000 genomes]
rs10274725	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11763486	0.82[EUR][1000 genomes]
rs11765279	0.81[EUR][1000 genomes]
rs11765283	0.83[EUR][1000 genomes]
rs11765481	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11769413	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11769745	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11770086	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11771227	0.81[EUR][1000 genomes]
rs11773012	0.82[EUR][1000 genomes]
rs13222233	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13222367	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13225639	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13229085	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1829931	0.80[AFR][1000 genomes]
rs1880278	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2690147	0.81[EUR][1000 genomes]
rs28373802	0.85[EUR][1000 genomes]
rs28465142	0.86[EUR][1000 genomes]
rs28620117	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28813778	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28888421	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2901425	0.84[EUR][1000 genomes]
rs2960982	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34762791	0.83[EUR][1000 genomes]
rs35122750	0.85[EUR][1000 genomes]
rs35470341	0.84[EUR][1000 genomes]
rs3857691	0.84[EUR][1000 genomes]
rs4083135	0.83[EUR][1000 genomes]
rs4382353	0.81[EUR][1000 genomes]
rs4593419	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55829112	0.82[EUR][1000 genomes]
rs62464963	0.84[AFR][1000 genomes]
rs6460325	0.82[EUR][1000 genomes]
rs6460326	0.82[EUR][1000 genomes]
rs6460327	0.82[EUR][1000 genomes]
rs6460328	0.82[EUR][1000 genomes]
rs6460329	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6460330	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66744554	0.81[EUR][1000 genomes]
rs66908665	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6948003	0.80[AMR][1000 genomes]
rs6948008	0.82[AMR][1000 genomes]
rs6949104	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6952309	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6958165	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6958481	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6966142	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6972762	0.81[EUR][1000 genomes]
rs6974485	0.83[AFR][1000 genomes]
rs6978418	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6978918	0.86[EUR][1000 genomes]
rs71563165	0.84[EUR][1000 genomes]
rs71563168	0.83[EUR][1000 genomes]
rs7350002	0.82[EUR][1000 genomes]
rs7350057	0.82[EUR][1000 genomes]
rs7779596	0.80[EUR][1000 genomes]
rs7783513	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7783776	0.82[AFR][1000 genomes]
rs7783888	0.87[AFR][1000 genomes]
rs7791271	0.81[EUR][1000 genomes]
rs7792212	0.82[EUR][1000 genomes]
rs7793101	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7793104	0.81[EUR][1000 genomes]
rs7794130	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7796133	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7797608	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7809649	0.81[EUR][1000 genomes]
rs7811122	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7811268	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9690120	0.84[EUR][1000 genomes]
rs9690121	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9690145	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9690291	0.82[EUR][1000 genomes]
rs9690839	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9692120	0.81[AMR][1000 genomes]
rs9692192	0.82[EUR][1000 genomes]
rs9692303	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv966838	chr7:66548076-66617503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	esv1850306	chr7:66601324-66632583	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs14318	TYW1	cis	Heart Left Ventricle	GTEx
rs14318	TYW1	Cis_1M	lymphoblastoid	RTeQTL
rs14318	STAG3L4	cis	Nerve Tibial	GTEx
rs14318	TYW1	cis	Esophagus Mucosa	GTEx
rs14318	TYW1	cis	Nerve Tibial	GTEx
rs14318	TYW1	cis	Muscle Skeletal	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:66545600-66616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:66576600-66616600	Weak transcription	Fetal Stomach	stomach
5	chr7:66584400-66624400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:66585000-66622400	Weak transcription	HSMM	muscle
7	chr7:66585000-66623600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:66585200-66627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:66591400-66620000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:66591600-66626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:66594000-66622000	Weak transcription	Pancreas	Pancrea
12	chr7:66594200-66623800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:66594600-66614800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:66594600-66615800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:66594600-66617800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:66594600-66620200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:66594600-66621800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:66594800-66623000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:66594800-66626800	Weak transcription	Dnd41	blood
20	chr7:66595000-66613600	Weak transcription	K562	blood
21	chr7:66595000-66618800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:66595000-66627400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:66595200-66616400	Weak transcription	GM12878-XiMat	blood
24	chr7:66595400-66620400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:66595600-66616600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:66596000-66618800	Weak transcription	Fetal Intestine Large	intestine
27	chr7:66596000-66619200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:66596000-66620200	Weak transcription	Primary B cells from cord blood	blood
29	chr7:66596000-66620400	Weak transcription	Adipose Nuclei	Adipose
30	chr7:66598600-66616400	Weak transcription	Fetal Intestine Small	intestine
31	chr7:66600400-66623400	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:66600800-66625000	Weak transcription	Left Ventricle	heart
33	chr7:66603200-66617000	Weak transcription	Primary T cells from cord blood	blood
34	chr7:66603200-66626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:66604600-66624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:66608800-66614000	Weak transcription	Fetal Heart	heart
37	chr7:66608800-66614800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:66608800-66628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:66608800-66632600	Weak transcription	Ovary	ovary
40	chr7:66609800-66620400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:66609800-66624400	Weak transcription	Liver	Liver
42	chr7:66612000-66619600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:66612000-66620200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:66612400-66627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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