Variant report

Variant	rs9743983
Chromosome Location	chr14:67732964-67732965
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs1006595	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10129185	0.85[ASN][1000 genomes]
rs10129779	0.80[CHB][hapmap]
rs10131175	0.86[CHB][hapmap]
rs10131212	0.85[CHB][hapmap]
rs10132093	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10135903	0.85[CHB][hapmap]
rs10137557	0.85[CHB][hapmap]
rs10138319	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10138755	0.90[CHB][hapmap]
rs10138824	0.85[CHB][hapmap]
rs10139953	0.83[ASN][1000 genomes]
rs10140817	0.86[CHB][hapmap]
rs10141180	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10141692	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10144090	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs10144401	0.85[CHB][hapmap]
rs10144417	0.85[CHB][hapmap]
rs10144774	0.85[ASN][1000 genomes]
rs10145586	0.91[CHB][hapmap]
rs10146389	0.83[ASN][1000 genomes]
rs10146663	0.85[CHB][hapmap]
rs10147852	0.90[CHB][hapmap]
rs10150082	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10150902	0.85[CHB][hapmap]
rs10151464	0.86[CHB][hapmap]
rs10431718	0.86[CHB][hapmap]
rs1044745	0.81[ASN][1000 genomes]
rs1045060	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10459453	0.91[CHB][hapmap]
rs1073604	0.80[ASN][1000 genomes]
rs1073605	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1073607	0.91[CHB][hapmap]
rs1078194	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10873200	0.86[CHB][hapmap];0.82[AMR][1000 genomes]
rs11158655	0.86[CHB][hapmap];0.82[AMR][1000 genomes]
rs11158656	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11158658	0.91[CHB][hapmap]
rs12323494	0.91[CHB][hapmap]
rs12323911	0.90[CHB][hapmap]
rs12586552	0.90[CHB][hapmap]
rs12588292	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12588458	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs12588478	0.81[CHB][hapmap]
rs12589091	0.90[CHB][hapmap]
rs12589218	0.91[CHB][hapmap]
rs12589671	0.86[CHB][hapmap]
rs12590065	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12590956	0.86[CHB][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1318914	0.91[CHB][hapmap]
rs13379142	0.81[CHB][hapmap]
rs13379368	0.86[CHB][hapmap]
rs1473732	0.81[ASN][1000 genomes]
rs1535491	0.90[CHB][hapmap]
rs1536271	0.86[CHB][hapmap]
rs1536272	0.81[CHB][hapmap]
rs17104103	0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs17104106	0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs17104109	0.86[CHB][hapmap]
rs17104114	0.81[CEU][hapmap];0.86[CHB][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17104202	0.81[ASN][1000 genomes]
rs17248456	0.82[ASN][1000 genomes]
rs17248526	0.90[CHB][hapmap]
rs17248616	0.85[CHB][hapmap]
rs1885589	0.86[CHB][hapmap]
rs1885590	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2031563	0.81[CHB][hapmap]
rs2031564	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2057396	0.86[CHB][hapmap]
rs2094162	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2146229	0.85[CHB][hapmap]
rs2146230	0.90[CHB][hapmap]
rs2236333	0.86[CHB][hapmap]
rs2274335	0.86[CHB][hapmap]
rs2274338	0.86[CHB][hapmap]
rs2296560	0.85[CHB][hapmap]
rs2296561	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2296562	0.83[ASN][1000 genomes]
rs2296563	0.81[ASN][1000 genomes]
rs2319777	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs28411190	0.81[ASN][1000 genomes]
rs28521373	0.94[ASN][1000 genomes]
rs28562402	0.81[ASN][1000 genomes]
rs3759755	0.85[CHB][hapmap]
rs3784085	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs3818467	0.85[CHB][hapmap]
rs3818468	0.80[CHB][hapmap]
rs3844530	0.95[ASN][1000 genomes]
rs4058254	0.85[CHB][hapmap]
rs4636843	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs58257525	0.81[ASN][1000 genomes]
rs59472119	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59861720	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61024303	0.82[AMR][1000 genomes]
rs61510566	0.80[ASN][1000 genomes]
rs6573760	0.85[CHB][hapmap]
rs6573763	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs6573765	0.91[CHB][hapmap];0.96[JPT][hapmap];0.83[ASN][1000 genomes]
rs6573769	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs66851210	0.83[ASN][1000 genomes]
rs67470433	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67968914	0.83[ASN][1000 genomes]
rs68002629	0.85[ASN][1000 genomes]
rs7149535	0.91[CHB][hapmap]
rs7153725	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7154607	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7156441	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7157704	0.81[ASN][1000 genomes]
rs73276994	0.81[AMR][1000 genomes]
rs73279056	0.80[ASN][1000 genomes]
rs73280932	0.80[ASN][1000 genomes]
rs73280987	0.84[ASN][1000 genomes]
rs73282707	0.88[ASN][1000 genomes]
rs8003669	0.81[ASN][1000 genomes]
rs8004148	0.86[CHB][hapmap];0.80[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8004332	0.80[CHB][hapmap]
rs8004488	0.85[CHB][hapmap]
rs8005756	0.81[ASN][1000 genomes]
rs8005876	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs8006042	0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs8006391	0.86[CHB][hapmap]
rs8006519	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs8007033	0.85[CHB][hapmap]
rs8007866	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs8008236	0.91[CHB][hapmap]
rs8008443	1.00[CHB][hapmap];0.96[JPT][hapmap];0.98[ASN][1000 genomes]
rs8008619	0.85[CHB][hapmap]
rs8008724	0.85[CHB][hapmap]
rs8009318	0.81[CHB][hapmap]
rs8014966	0.85[CHB][hapmap]
rs8015641	0.95[CHB][hapmap];0.96[JPT][hapmap]
rs8015819	0.90[CHB][hapmap];0.96[JPT][hapmap];0.81[ASN][1000 genomes]
rs8015862	0.91[CHB][hapmap]
rs8016024	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs8016037	0.90[CHB][hapmap]
rs8019109	0.81[ASN][1000 genomes]
rs8020850	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs8021896	0.85[CHB][hapmap]
rs8021992	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960797	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs9743911	0.91[CHB][hapmap]
rs9743912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9743983	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs9743983	ATP6V1D	cis	Thyroid	GTEx
rs9743983	EIF2S1	cis	multi-tissue	Pritchard

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67709000-67740600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:67709800-67733600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:67709800-67737800	Weak transcription	Primary T cells from cord blood	blood
4	chr14:67709800-67746000	Weak transcription	Primary B cells from cord blood	blood
5	chr14:67710600-67735000	Weak transcription	Placenta	Placenta
6	chr14:67712200-67734400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:67714400-67735000	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:67718800-67734000	Weak transcription	NHEK	skin
9	chr14:67718800-67734800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:67718800-67735200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:67719200-67733600	Weak transcription	Left Ventricle	heart
12	chr14:67719400-67734400	Weak transcription	HSMMtube	muscle
13	chr14:67719400-67735200	Weak transcription	Lung	lung
14	chr14:67719400-67735200	Weak transcription	Psoas Muscle	Psoas
15	chr14:67719400-67735600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:67719800-67734400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:67720400-67734400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:67720600-67733600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:67720600-67734400	Weak transcription	GM12878-XiMat	blood
20	chr14:67720600-67734400	Weak transcription	HMEC	breast
21	chr14:67721200-67735200	Weak transcription	Colonic Mucosa	Colon
22	chr14:67721400-67735200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:67721400-67735600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:67721400-67737600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:67721400-67798400	Weak transcription	Hela-S3	cervix
26	chr14:67721600-67735200	Weak transcription	Fetal Intestine Large	intestine
27	chr14:67724200-67734400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:67725400-67735200	Weak transcription	Esophagus	oesophagus
29	chr14:67725600-67734800	Weak transcription	HSMM	muscle
30	chr14:67726400-67733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:67727800-67734200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:67727800-67738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:67728800-67734000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:67728800-67735000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:67728800-67735000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:67729400-67734200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:67729800-67735600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:67730000-67734400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:67730200-67734400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:67730200-67734400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:67730200-67734800	Weak transcription	Liver	Liver
42	chr14:67730400-67734400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:67730400-67736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:67730600-67734200	Weak transcription	Brain Substantia Nigra	brain
45	chr14:67730600-67734400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:67730600-67734400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:67730600-67734400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:67730600-67734400	Weak transcription	Brain Angular Gyrus	brain
49	chr14:67730600-67734400	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:67730600-67734400	Weak transcription	Fetal Kidney	kidney

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