Variant report

Variant	rs1006595
Chromosome Location	chr14:67738852-67738853
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	chr14:67737210..67739382-chr14:67748000..67750840,3	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10129185	0.80[ASN][1000 genomes]
rs10131212	0.83[JPT][hapmap]
rs10132093	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs10138824	0.83[JPT][hapmap]
rs10141180	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10144090	0.82[JPT][hapmap]
rs10144401	0.83[JPT][hapmap]
rs10144417	0.83[JPT][hapmap]
rs10144774	0.80[ASN][1000 genomes]
rs10146663	0.83[JPT][hapmap]
rs10147852	0.83[JPT][hapmap]
rs10149615	0.81[ASN][1000 genomes]
rs10150902	0.83[JPT][hapmap]
rs10431718	0.83[JPT][hapmap]
rs1044745	0.83[ASN][1000 genomes]
rs1045060	0.82[JPT][hapmap]
rs1073605	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10873200	0.88[CEU][hapmap]
rs11158655	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs12323494	0.83[JPT][hapmap]
rs12323911	0.83[JPT][hapmap]
rs12588292	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12588458	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs12590065	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12590956	0.88[CEU][hapmap];0.80[ASN][1000 genomes]
rs1473732	0.85[ASN][1000 genomes]
rs1535491	0.83[JPT][hapmap]
rs17104103	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs17104106	0.88[CEU][hapmap]
rs17104202	0.85[ASN][1000 genomes]
rs17248526	0.83[JPT][hapmap]
rs17248616	0.81[CHB][hapmap]
rs1885589	0.83[JPT][hapmap]
rs1885590	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2031564	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs2094162	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2146229	0.83[JPT][hapmap]
rs2146230	0.83[JPT][hapmap]
rs2296560	0.83[JPT][hapmap]
rs2296561	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs2319777	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs28521373	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3759755	0.83[JPT][hapmap]
rs3784085	0.88[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap]
rs3818467	0.83[JPT][hapmap]
rs3844530	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4636843	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57154550	0.82[ASN][1000 genomes]
rs59472119	0.80[ASN][1000 genomes]
rs60505324	0.81[ASN][1000 genomes]
rs6573760	0.87[CHB][hapmap];0.87[YRI][hapmap]
rs6573765	0.96[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6573768	0.81[ASN][1000 genomes]
rs6573769	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs68002629	0.80[ASN][1000 genomes]
rs7152903	0.81[JPT][hapmap]
rs7153725	0.87[JPT][hapmap]
rs7154607	0.82[JPT][hapmap]
rs7156441	0.82[JPT][hapmap]
rs73279056	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73280987	0.86[ASN][1000 genomes]
rs73282707	0.83[ASN][1000 genomes]
rs764039	0.84[CHB][hapmap]
rs8004148	0.82[CHB][hapmap]
rs8004488	0.87[CHB][hapmap]
rs8005876	0.86[JPT][hapmap]
rs8006042	0.88[CEU][hapmap];0.95[JPT][hapmap]
rs8006519	0.95[JPT][hapmap]
rs8007033	0.83[JPT][hapmap]
rs8007696	0.81[ASN][1000 genomes]
rs8007866	0.96[JPT][hapmap];0.81[ASN][1000 genomes]
rs8008443	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8008619	0.83[JPT][hapmap]
rs8008724	0.83[JPT][hapmap]
rs8015641	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8015819	0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs8016024	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs8016037	0.83[JPT][hapmap]
rs8020850	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs8021896	0.83[JPT][hapmap]
rs8021992	0.93[ASN][1000 genomes]
rs9323497	0.82[CHB][hapmap]
rs960797	0.88[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9743912	0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs9743983	0.95[CHB][hapmap];0.95[JPT][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1006595	ATP6V1D	cis	Thyroid	GTEx
rs1006595	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs1006595	PLEK2	cis	lung	GTEx
rs1006595	EIF2S1	cis	multi-tissue	Pritchard

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67709000-67740600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:67709800-67746000	Weak transcription	Primary B cells from cord blood	blood
3	chr14:67721400-67798400	Weak transcription	Hela-S3	cervix
4	chr14:67730800-67739200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:67730800-67769800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:67732400-67810000	Weak transcription	Gastric	stomach
7	chr14:67732600-67739000	Weak transcription	Dnd41	blood
8	chr14:67733600-67747800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:67733800-67740600	Weak transcription	Spleen	Spleen
10	chr14:67734200-67760200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:67734800-67768600	Weak transcription	GM12878-XiMat	blood
12	chr14:67735200-67760200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:67735400-67745800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:67735400-67771600	Weak transcription	NHEK	skin
15	chr14:67735400-67778600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:67735400-67798400	Weak transcription	K562	blood
17	chr14:67735600-67739400	Weak transcription	Left Ventricle	heart
18	chr14:67735600-67751200	Weak transcription	Pancreas	Pancrea
19	chr14:67735600-67752800	Weak transcription	Esophagus	oesophagus
20	chr14:67735600-67754800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:67735600-67770000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:67735600-67772000	Weak transcription	Lung	lung
23	chr14:67735600-67810000	Weak transcription	Aorta	Aorta
24	chr14:67735800-67739000	Weak transcription	Small Intestine	intestine
25	chr14:67735800-67739200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:67735800-67739400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:67735800-67740400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:67736200-67742800	Weak transcription	HUVEC	blood vessel
29	chr14:67736200-67768600	Weak transcription	Fetal Thymus	thymus
30	chr14:67736400-67744000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr14:67736600-67741800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:67736600-67762400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:67736600-67770600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:67736800-67760400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr14:67737000-67739000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:67737000-67743000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:67737000-67759800	Weak transcription	NH-A	brain
38	chr14:67737000-67768200	Weak transcription	HMEC	breast
39	chr14:67737000-67768400	Weak transcription	A549	lung
40	chr14:67737000-67769800	Weak transcription	Ovary	ovary
41	chr14:67737000-67777600	Weak transcription	HepG2	liver
42	chr14:67737200-67739000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:67737200-67739000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:67737200-67739200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:67737200-67742800	Weak transcription	Liver	Liver
46	chr14:67737200-67743000	Weak transcription	Colonic Mucosa	Colon
47	chr14:67737200-67747000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:67737200-67768000	Weak transcription	Osteobl	bone
49	chr14:67737200-67772200	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:67737200-67801400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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