Variant report

Variant	rs7765
Chromosome Location	chr14:68144329-68144330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68144041-68144385	K562	blood:	n/a	n/a
2	ZNF384	chr14:68144091-68144393	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68143928..68146779-chr14:68151837..68154515,2	K562	blood:
2	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
3	chr14:68143928..68146779-chr14:68151837..68154556,3	K562	blood:
4	chr14:68143497..68145467-chr14:68232189..68234111,2	MCF-7	breast:
5	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
6	chr14:68139715..68143124-chr14:68143351..68148524,6	K562	blood:

No data

Variant related genes	Relation type
VTI1B	TF binding region
ENSG00000072042	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000258466	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10131022	1.00[EUR][1000 genomes]
rs10133699	1.00[EUR][1000 genomes]
rs10134763	1.00[EUR][1000 genomes]
rs10135963	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136738	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10139064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10142186	1.00[EUR][1000 genomes]
rs10145923	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10145933	1.00[EUR][1000 genomes]
rs10146242	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147052	1.00[EUR][1000 genomes]
rs10147145	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150532	1.00[EUR][1000 genomes]
rs11849600	1.00[MEX][hapmap]
rs17104527	1.00[EUR][1000 genomes]
rs17104547	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104587	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104591	1.00[EUR][1000 genomes]
rs17104697	1.00[EUR][1000 genomes]
rs2234506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2234512	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2295109	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2295110	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28451245	1.00[EUR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28784083	1.00[EUR][1000 genomes]
rs28817410	1.00[EUR][1000 genomes]
rs28844401	1.00[EUR][1000 genomes]
rs34057001	1.00[EUR][1000 genomes]
rs35010674	1.00[EUR][1000 genomes]
rs4272963	1.00[EUR][1000 genomes]
rs4899218	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899220	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4902492	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4902510	0.94[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902516	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4902522	1.00[EUR][1000 genomes]
rs57023353	1.00[EUR][1000 genomes]
rs57348219	1.00[EUR][1000 genomes]
rs58112975	1.00[EUR][1000 genomes]
rs58952057	1.00[EUR][1000 genomes]
rs59945885	1.00[EUR][1000 genomes]
rs7143223	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7143483	1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7145385	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7149669	1.00[EUR][1000 genomes]
rs7156195	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7157699	1.00[EUR][1000 genomes]
rs7160492	1.00[MEX][hapmap]
rs7359109	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]
rs8009762	1.00[EUR][1000 genomes]
rs8010136	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8015427	1.00[TSI][hapmap]
rs8015609	1.00[EUR][1000 genomes]
rs8018161	1.00[EUR][1000 genomes]
rs8018528	1.00[EUR][1000 genomes]
rs8023116	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats 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 target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7765	VTI1B	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68142000-68157000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68142200-68144400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:68142200-68144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:68142200-68144400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:68142200-68144400	Weak transcription	Aorta	Aorta
6	chr14:68142200-68144400	Weak transcription	Esophagus	oesophagus
7	chr14:68142200-68144400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:68142200-68147000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:68142200-68147800	Weak transcription	Small Intestine	intestine
10	chr14:68142200-68149600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:68142200-68149800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:68142200-68155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:68142200-68155400	Weak transcription	Colonic Mucosa	Colon
14	chr14:68142400-68144400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:68142400-68144400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:68142400-68144400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:68142400-68144400	Weak transcription	Fetal Brain Male	brain
18	chr14:68142400-68144400	Weak transcription	Fetal Intestine Large	intestine
19	chr14:68142400-68144400	Weak transcription	Left Ventricle	heart
20	chr14:68142400-68144400	Weak transcription	Thymus	Thymus
21	chr14:68142400-68144400	Strong transcription	HMEC	breast
22	chr14:68142400-68144400	Weak transcription	HSMMtube	muscle
23	chr14:68142400-68144400	Weak transcription	NHEK	skin
24	chr14:68142400-68144800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:68142400-68144800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:68142400-68145800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:68142400-68146000	Strong transcription	NHLF	lung
28	chr14:68142400-68146600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:68142400-68146600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:68142400-68146800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:68142400-68147200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:68142400-68147800	Weak transcription	Stomach Mucosa	stomach
33	chr14:68142400-68148600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:68142400-68148800	Strong transcription	Fetal Stomach	stomach
35	chr14:68142400-68150200	Weak transcription	Fetal Heart	heart
36	chr14:68142400-68151000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:68142400-68151600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:68142400-68151800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:68142400-68151800	Weak transcription	Right Ventricle	heart
40	chr14:68142400-68152000	Weak transcription	Psoas Muscle	Psoas
41	chr14:68142400-68155000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:68142400-68155400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr14:68142400-68160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:68142400-68160800	Weak transcription	Right Atrium	heart
45	chr14:68142600-68144400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:68142600-68144400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:68142600-68144400	Weak transcription	Gastric	stomach
48	chr14:68142600-68144400	Weak transcription	Lung	lung
49	chr14:68142600-68144400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:68142600-68144600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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