Variant report

Variant	rs67968914
Chromosome Location	chr14:67818228-67818229
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67816976..67818692-chr14:67827007..67828546,2	MCF-7	breast:
2	chr14:67809333..67811728-chr14:67818021..67819593,2	MCF-7	breast:
3	chr14:67817307..67820185-chr14:67826327..67829228,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100554	Chromatin interaction
ENSG00000134001	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10129185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10131175	0.84[AMR][1000 genomes]
rs10132093	0.93[ASN][1000 genomes]
rs10135163	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10135498	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10136710	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10137557	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10138755	0.84[AMR][1000 genomes]
rs10139585	0.81[AMR][1000 genomes]
rs10139684	0.81[AMR][1000 genomes]
rs10139953	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10141180	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10143251	0.81[AMR][1000 genomes]
rs10144122	0.91[ASN][1000 genomes]
rs10144417	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10144774	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10146389	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10147362	0.81[ASN][1000 genomes]
rs10149615	0.93[ASN][1000 genomes]
rs1044745	0.89[ASN][1000 genomes]
rs1045060	0.81[AMR][1000 genomes]
rs10873200	0.98[EUR][1000 genomes]
rs11158655	0.98[EUR][1000 genomes]
rs12588292	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12588458	0.95[ASN][1000 genomes]
rs12588478	0.80[ASN][1000 genomes]
rs12589671	0.84[AMR][1000 genomes]
rs12590065	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590952	0.81[AMR][1000 genomes]
rs12590956	0.98[EUR][1000 genomes]
rs13379142	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13379368	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1473732	0.85[ASN][1000 genomes]
rs1536271	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1536272	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1536273	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17104103	0.98[EUR][1000 genomes]
rs17104106	0.98[EUR][1000 genomes]
rs17104202	0.85[ASN][1000 genomes]
rs17248714	0.84[AMR][1000 genomes]
rs1885590	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1980817	0.81[AMR][1000 genomes]
rs2031563	0.84[AMR][1000 genomes]
rs2031564	0.93[ASN][1000 genomes]
rs2094162	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236333	0.81[AMR][1000 genomes]
rs2274335	0.81[AMR][1000 genomes]
rs2274336	0.84[AMR][1000 genomes]
rs2274338	0.84[AMR][1000 genomes]
rs2296560	0.84[AMR][1000 genomes]
rs2296561	0.93[ASN][1000 genomes]
rs2296562	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2296563	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2319777	0.92[ASN][1000 genomes]
rs28422832	0.84[AMR][1000 genomes]
rs28456209	0.84[AMR][1000 genomes]
rs28458235	0.81[AMR][1000 genomes]
rs28558916	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28668536	0.84[AMR][1000 genomes]
rs3759755	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3784085	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3818467	0.84[AMR][1000 genomes]
rs3818468	0.81[AMR][1000 genomes]
rs3825722	0.84[AMR][1000 genomes]
rs57154550	0.91[ASN][1000 genomes]
rs57234033	0.81[AMR][1000 genomes]
rs58257525	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60505324	0.88[ASN][1000 genomes]
rs61024303	0.98[EUR][1000 genomes]
rs6573765	0.85[ASN][1000 genomes]
rs6573768	0.93[ASN][1000 genomes]
rs6573769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66851210	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68002629	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153725	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7154607	0.92[ASN][1000 genomes]
rs7156441	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7157704	0.94[ASN][1000 genomes]
rs73276994	0.93[EUR][1000 genomes]
rs73280987	0.86[ASN][1000 genomes]
rs73282707	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73284812	0.81[AMR][1000 genomes]
rs73284892	0.90[ASN][1000 genomes]
rs8003327	0.91[ASN][1000 genomes]
rs8005756	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8005876	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8006042	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006391	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8006519	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8007033	0.84[AMR][1000 genomes]
rs8007696	0.93[ASN][1000 genomes]
rs8007866	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8008443	0.84[ASN][1000 genomes]
rs8008619	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8008724	0.84[AMR][1000 genomes]
rs8015641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8015819	0.89[ASN][1000 genomes]
rs8016024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016623	0.81[AMR][1000 genomes]
rs8019109	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8020720	0.81[AMR][1000 genomes]
rs8020850	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8021992	0.83[ASN][1000 genomes]
rs960797	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9743912	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv902065	chr14:67739285-67819602	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67968914	ATP6V1D	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
3	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:67791600-67820000	Weak transcription	Pancreas	Pancrea
6	chr14:67797000-67820800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:67798400-67819400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:67798400-67820200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:67800000-67825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:67800400-67820200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:67805200-67819600	Weak transcription	Esophagus	oesophagus
12	chr14:67805200-67823600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:67806200-67819000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:67808400-67820400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:67808400-67823400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:67808600-67820200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr14:67808600-67820400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr14:67808800-67820200	Strong transcription	Adipose Nuclei	Adipose
19	chr14:67809000-67819200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:67809000-67819200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:67809000-67820000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:67809000-67820000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:67809000-67820200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:67809000-67820200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:67809000-67820200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:67809000-67820200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:67809000-67820200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:67809000-67820200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:67809000-67820200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:67809000-67820200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:67809000-67820200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:67809000-67820200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr14:67809000-67820200	Strong transcription	Placenta	Placenta
34	chr14:67809000-67820200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:67809000-67820400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr14:67809000-67820800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:67809200-67819400	Strong transcription	Fetal Intestine Large	intestine
38	chr14:67809200-67820600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:67809200-67820800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:67809600-67818400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr14:67809600-67818800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:67809600-67819400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr14:67809600-67820200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:67809600-67820200	Strong transcription	Osteobl	bone
45	chr14:67809800-67818800	Strong transcription	Brain Anterior Caudate	brain
46	chr14:67809800-67819400	Strong transcription	Fetal Brain Female	brain
47	chr14:67809800-67819600	Strong transcription	Liver	Liver
48	chr14:67809800-67820000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr14:67809800-67820400	Strong transcription	Left Ventricle	heart
50	chr14:67810000-67819200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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