Variant report

Variant	rs67470433
Chromosome Location	chr14:67708831-67708832
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67705865..67709673-chr14:67825015..67827419,4	MCF-7	breast:
2	chr14:67708428..67708936-chr7:155436811..155437523,2	Hela-S3	cervix:
3	chr14:67708212..67708894-chr22:24236066..24236861,2	Hela-S3	cervix:
4	chr14:67706036..67709545-chr14:67826326..67828458,4	MCF-7	breast:
5	chr14:67708016..67710004-chr14:67804973..67807646,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184863	Chromatin interaction
ENSG00000216895	Chromatin interaction
ENSG00000199755	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000240972	Chromatin interaction
ENSG00000100554	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10130796	0.81[ASN][1000 genomes]
rs10135883	0.85[ASN][1000 genomes]
rs10138319	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10140817	0.80[ASN][1000 genomes]
rs10141692	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10141879	0.89[ASN][1000 genomes]
rs10144090	0.86[ASN][1000 genomes]
rs10144218	0.86[ASN][1000 genomes]
rs10145586	0.87[ASN][1000 genomes]
rs10145744	0.88[ASN][1000 genomes]
rs10147852	0.88[ASN][1000 genomes]
rs10150082	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10151464	0.80[ASN][1000 genomes]
rs10152002	0.88[ASN][1000 genomes]
rs10459453	0.87[ASN][1000 genomes]
rs10459529	0.87[ASN][1000 genomes]
rs10459530	0.86[ASN][1000 genomes]
rs10459531	0.87[ASN][1000 genomes]
rs1073604	0.88[ASN][1000 genomes]
rs1073605	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1073606	0.87[ASN][1000 genomes]
rs1073607	0.87[ASN][1000 genomes]
rs1078194	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10873200	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1113973	0.86[ASN][1000 genomes]
rs11158655	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11158656	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158658	0.85[ASN][1000 genomes]
rs12323494	0.86[ASN][1000 genomes]
rs12323793	0.81[ASN][1000 genomes]
rs12323911	0.87[ASN][1000 genomes]
rs12586402	0.81[ASN][1000 genomes]
rs12589218	0.87[ASN][1000 genomes]
rs12589325	0.85[ASN][1000 genomes]
rs12590956	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1318914	0.85[ASN][1000 genomes]
rs1475127	0.88[ASN][1000 genomes]
rs17104103	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17104106	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17104109	0.81[ASN][1000 genomes]
rs17104114	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17104188	0.87[ASN][1000 genomes]
rs17248456	0.92[ASN][1000 genomes]
rs17248526	0.87[ASN][1000 genomes]
rs17836683	0.85[ASN][1000 genomes]
rs1881035	0.88[ASN][1000 genomes]
rs1918484	0.81[ASN][1000 genomes]
rs2025208	0.87[ASN][1000 genomes]
rs2025209	0.85[ASN][1000 genomes]
rs2146230	0.87[ASN][1000 genomes]
rs28370351	0.88[ASN][1000 genomes]
rs28401319	0.87[ASN][1000 genomes]
rs28411190	0.88[ASN][1000 genomes]
rs28424592	0.87[ASN][1000 genomes]
rs28522593	0.88[ASN][1000 genomes]
rs28522922	0.87[ASN][1000 genomes]
rs28562402	0.88[ASN][1000 genomes]
rs28696352	0.85[ASN][1000 genomes]
rs45612334	0.88[ASN][1000 genomes]
rs57266997	0.87[ASN][1000 genomes]
rs57782535	0.87[ASN][1000 genomes]
rs58809332	0.87[ASN][1000 genomes]
rs58954149	0.87[ASN][1000 genomes]
rs59472119	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59861720	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60953279	0.87[ASN][1000 genomes]
rs61024303	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61281789	0.85[ASN][1000 genomes]
rs61510566	0.87[ASN][1000 genomes]
rs61612119	0.84[ASN][1000 genomes]
rs61749574	0.85[ASN][1000 genomes]
rs6573758	0.85[ASN][1000 genomes]
rs6573760	0.84[ASN][1000 genomes]
rs6573763	0.88[ASN][1000 genomes]
rs6573764	0.87[ASN][1000 genomes]
rs7140287	0.87[ASN][1000 genomes]
rs7149535	0.87[ASN][1000 genomes]
rs7151684	0.85[ASN][1000 genomes]
rs7152903	0.87[ASN][1000 genomes]
rs73276994	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73279028	0.88[ASN][1000 genomes]
rs73279056	0.92[ASN][1000 genomes]
rs73280932	0.88[ASN][1000 genomes]
rs73280967	0.87[ASN][1000 genomes]
rs73282711	0.80[ASN][1000 genomes]
rs8003669	0.90[ASN][1000 genomes]
rs8004148	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8004488	0.85[ASN][1000 genomes]
rs8008155	0.86[ASN][1000 genomes]
rs8008236	0.87[ASN][1000 genomes]
rs8008443	0.81[ASN][1000 genomes]
rs8009318	0.88[ASN][1000 genomes]
rs8016037	0.87[ASN][1000 genomes]
rs8017301	0.87[ASN][1000 genomes]
rs8018738	0.88[ASN][1000 genomes]
rs8021992	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9323496	0.88[ASN][1000 genomes]
rs9743911	0.87[ASN][1000 genomes]
rs9743912	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67470433	ATP6V1D	cis	Thyroid	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67706800-67709000	Active TSS	Aorta	Aorta
2	chr14:67706800-67709000	Active TSS	Rectal Smooth Muscle	rectum
3	chr14:67706800-67709200	Active TSS	Brain Angular Gyrus	brain
4	chr14:67706800-67709200	Active TSS	Colonic Mucosa	Colon
5	chr14:67706800-67709200	Active TSS	Psoas Muscle	Psoas
6	chr14:67706800-67709600	Active TSS	Brain Anterior Caudate	brain
7	chr14:67706800-67709600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr14:67706800-67709600	Active TSS	K562	blood
9	chr14:67706800-67710000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:67707000-67709000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr14:67707000-67709000	Active TSS	Ovary	ovary
12	chr14:67707000-67709000	Active TSS	Placenta Amnion	Placenta Amnion
13	chr14:67707000-67709200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr14:67707000-67709200	Active TSS	Stomach Mucosa	stomach
15	chr14:67707000-67709400	Active TSS	Right Atrium	heart
16	chr14:67707000-67709800	Active TSS	Fetal Intestine Large	intestine
17	chr14:67707000-67710000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:67707200-67709000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:67707200-67709000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:67707200-67709200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:67707200-67709200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:67707200-67709200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:67707200-67709200	Active TSS	Colon Smooth Muscle	Colon
24	chr14:67707200-67709200	Active TSS	Thymus	Thymus
25	chr14:67707200-67709200	Bivalent/Poised TSS	HepG2	liver
26	chr14:67707200-67709400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:67707200-67709400	Active TSS	NHDF-Ad	bronchial
28	chr14:67707200-67709600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr14:67707200-67709800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr14:67707200-67709800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:67707200-67709800	Active TSS	Fetal Intestine Small	intestine
32	chr14:67707200-67709800	Active TSS	Fetal Kidney	kidney
33	chr14:67707200-67709800	Active TSS	HSMMtube	muscle
34	chr14:67707200-67710000	Active TSS	A549	lung
35	chr14:67707400-67709000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:67707400-67709000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr14:67707400-67709000	Active TSS	Fetal Muscle Trunk	muscle
38	chr14:67707400-67709200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:67707400-67709200	Active TSS	Adipose Nuclei	Adipose
40	chr14:67707400-67709200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:67707400-67709200	Active TSS	Brain Substantia Nigra	brain
42	chr14:67707400-67709200	Active TSS	Fetal Lung	lung
43	chr14:67707400-67709200	Active TSS	Fetal Muscle Leg	muscle
44	chr14:67707400-67709200	Active TSS	Right Ventricle	heart
45	chr14:67707400-67709200	Active TSS	Osteobl	bone
46	chr14:67707400-67709400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr14:67707400-67709400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr14:67707400-67709400	Active TSS	Brain Cingulate Gyrus	brain
49	chr14:67707400-67709400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr14:67707400-67709400	Active TSS	Placenta	Placenta

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