Variant report

Variant	rs7160195
Chromosome Location	chr14:77786375-77786376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr14:77786285-77787855	A549	lung:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
2	POLR2A	chr14:77786184-77789280	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr14:77786307-77788097	MCF-7	breast:	n/a	n/a
4	MYC	chr14:77786360-77787930	NB4	blood:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
5	REST	chr14:77786178-77788243	H1-neurons	neurons:	n/a	chr14:77787147-77787160 chr14:77787762-77787771 chr14:77787794-77787807
6	TCF12	chr14:77786277-77788053	A549	lung:	n/a	chr14:77787565-77787572 chr14:77787075-77787085 chr14:77787311-77787321 chr14:77787550-77787560
7	SREBP1	chr14:77786259-77788024	GM12878	blood:	n/a	chr14:77786739-77786753
8	MTA3	chr14:77786289-77788019	GM12878	blood:	n/a	n/a
9	MAX	chr14:77786357-77788005	MCF-7	breast:	n/a	chr14:77786739-77786748 chr14:77786689-77786699
10	MXI1	chr14:77786287-77789094	SK-N-SH	brain:	n/a	chr14:77786739-77786754
11	HCFC1	chr14:77786269-77788039	Hela-S3	cervix:	n/a	n/a
12	MXI1	chr14:77786162-77788939	IMR90	lung:	n/a	chr14:77786739-77786754
13	MAZ	chr14:77786367-77788017	IMR90	lung:	n/a	chr14:77786739-77786748 chr14:77786689-77786699

No.	Distal block	Cell Line	Cell type
1	chr14:77647339..77650955-chr14:77785389..77788358,5	MCF-7	breast:
2	chr14:77782973..77788435-chr14:78081530..78084931,5	MCF-7	breast:
3	chr14:77563716..77565986-chr14:77785813..77787789,2	MCF-7	breast:
4	chr14:77785598..77789538-chr14:77924091..77927637,5	MCF-7	breast:
5	chr14:77748044..77750512-chr14:77785605..77787632,2	MCF-7	breast:
6	chr14:77751328..77755884-chr14:77785355..77788655,4	MCF-7	breast:
7	chr14:77605681..77608147-chr14:77785721..77788952,4	MCF-7	breast:
8	chr14:77785518..77787393-chr14:77882110..77884811,2	K562	blood:
9	chr14:77765577..77770355-chr14:77785292..77788769,6	K562	blood:
10	chr14:77786062..77789367-chr14:77922502..77925939,5	K562	blood:
11	chr14:77559718..77567556-chr14:77781210..77790475,16	MCF-7	breast:
12	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:
13	chr14:77604510..77610221-chr14:77785583..77789070,6	MCF-7	breast:
14	chr14:77750609..77752387-chr14:77785082..77786796,2	MCF-7	breast:
15	chr14:77561613..77565836-chr14:77785735..77788648,4	K562	blood:
16	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
17	chr11:206146..209118-chr14:77786233..77788296,2	MCF-7	breast:
18	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:

Variant related genes	Relation type
GSTZ1	TF binding region
ENSG00000177963	Chromatin interaction
ENSG00000177951	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000177108	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000268156	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000269883	Chromatin interaction
ENSG00000165555	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11624859	0.88[ASN][1000 genomes]
rs11626281	0.86[ASN][1000 genomes]
rs11627257	0.88[ASN][1000 genomes]
rs12431465	0.80[ASN][1000 genomes]
rs17105672	0.88[ASN][1000 genomes]
rs2042045	0.94[ASN][1000 genomes]
rs2111699	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2193594	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270421	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363642	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363643	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2885854	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759733	0.81[ASN][1000 genomes]
rs3815626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147578	0.80[EUR][1000 genomes]
rs4147579	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4899650	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4903569	0.91[ASN][1000 genomes]
rs59630055	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61990299	0.88[ASN][1000 genomes]
rs6574367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574368	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67873774	0.88[ASN][1000 genomes]
rs7142812	0.94[ASN][1000 genomes]
rs7160188	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7975	0.89[EUR][1000 genomes]
rs8007615	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008449	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7160195	GSTZ1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77772600-77786400	Weak transcription	Aorta	Aorta
2	chr14:77773800-77786800	Weak transcription	Small Intestine	intestine
3	chr14:77776000-77786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:77779400-77786400	Enhancers	Fetal Muscle Leg	muscle
5	chr14:77781200-77786400	Weak transcription	Esophagus	oesophagus
6	chr14:77781600-77786400	Weak transcription	Ovary	ovary
7	chr14:77781800-77786400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:77782000-77786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:77782400-77786400	Enhancers	Liver	Liver
10	chr14:77782600-77786400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:77783600-77786400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:77783600-77786400	Weak transcription	Gastric	stomach
13	chr14:77783600-77786400	Weak transcription	Left Ventricle	heart
14	chr14:77783600-77786400	Weak transcription	Lung	lung
15	chr14:77783600-77786400	Weak transcription	Right Atrium	heart
16	chr14:77784800-77786400	Weak transcription	Psoas Muscle	Psoas
17	chr14:77785400-77786600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr14:77785600-77786400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:77785600-77786400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr14:77785600-77786400	Enhancers	Fetal Heart	heart
21	chr14:77785600-77786400	Enhancers	Spleen	Spleen
22	chr14:77785600-77786600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:77785600-77786600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr14:77785600-77786600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:77785600-77786600	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr14:77785600-77786600	Flanking Active TSS	Hela-S3	cervix
27	chr14:77785600-77786800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:77785600-77789000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:77785800-77786400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:77785800-77786400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:77785800-77786400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr14:77785800-77786400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:77785800-77786400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:77785800-77786400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:77785800-77786400	Enhancers	Colonic Mucosa	Colon
36	chr14:77785800-77786400	Flanking Active TSS	Fetal Brain Female	brain
37	chr14:77785800-77786400	Enhancers	Fetal Intestine Small	intestine
38	chr14:77785800-77786400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:77785800-77786400	Enhancers	Pancreas	Pancrea
40	chr14:77785800-77786400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr14:77785800-77786400	Enhancers	Right Ventricle	heart
42	chr14:77785800-77786400	Flanking Active TSS	HMEC	breast
43	chr14:77785800-77786600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:77785800-77786600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:77785800-77786600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:77785800-77786600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr14:77785800-77786600	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr14:77785800-77786600	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr14:77785800-77786600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr14:77785800-77786600	Flanking Active TSS	HepG2	liver

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