Variant report

Variant	rs2193594
Chromosome Location	chr14:77786021-77786022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:77785920-77786070	RPTEC	kidney:	n/a	n/a
2	CTCF	chr14:77785900-77786050	HEK293	kidney:	n/a	n/a
3	CTCF	chr14:77785999-77786050	NHEK	skin:	n/a	n/a
4	CTCF	chr14:77785920-77786070	HEK293	kidney:	n/a	n/a
5	CTCF	chr14:77785940-77786090	RPTEC	kidney:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77647339..77650955-chr14:77785389..77788358,5	MCF-7	breast:
2	chr14:77783199..77786317-chr14:77922263..77925867,3	MCF-7	breast:
3	chr14:77782973..77788435-chr14:78081530..78084931,5	MCF-7	breast:
4	chr14:77563716..77565986-chr14:77785813..77787789,2	MCF-7	breast:
5	chr14:77785598..77789538-chr14:77924091..77927637,5	MCF-7	breast:
6	chr14:77748044..77750512-chr14:77785605..77787632,2	MCF-7	breast:
7	chr14:77751328..77755884-chr14:77785355..77788655,4	MCF-7	breast:
8	chr14:77605681..77608147-chr14:77785721..77788952,4	MCF-7	breast:
9	chr14:77785518..77787393-chr14:77882110..77884811,2	K562	blood:
10	chr14:77783570..77786058-chr14:77925180..77927873,2	K562	blood:
11	chr14:77765577..77770355-chr14:77785292..77788769,6	K562	blood:
12	chr14:77559718..77567556-chr14:77781210..77790475,16	MCF-7	breast:
13	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:
14	chr14:77604510..77610221-chr14:77785583..77789070,6	MCF-7	breast:
15	chr14:77750609..77752387-chr14:77785082..77786796,2	MCF-7	breast:
16	chr14:77561613..77565836-chr14:77785735..77788648,4	K562	blood:
17	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:

No data

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

Extended variants
information (count: 45 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11624564	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs11624859	0.94[ASN][1000 genomes]
rs11626281	0.92[ASN][1000 genomes]
rs11627257	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12431465	0.84[ASN][1000 genomes]
rs17105672	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2042045	1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs2098380	0.82[CHB][hapmap]
rs2111699	0.86[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2216089	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2270421	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270423	0.86[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287387	0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2287395	0.86[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2363641	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363642	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363643	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2885854	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759733	0.88[CHD][hapmap]
rs3783986	0.81[CHD][hapmap];0.95[JPT][hapmap]
rs3815626	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4147578	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4147579	0.81[EUR][1000 genomes]
rs4899650	0.95[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4903567	0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4903568	0.83[ASN][1000 genomes]
rs4903569	0.85[ASN][1000 genomes]
rs59630055	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990299	0.94[ASN][1000 genomes]
rs6574367	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574368	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67873774	0.94[ASN][1000 genomes]
rs7142812	1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs7158951	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7159558	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7160188	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160195	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8007615	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8008449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009261	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs8009733	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs8016187	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[EUR][1000 genomes];0.85[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2193594	GSTZ1	Cis_1M	lymphoblastoid	RTeQTL
rs2193594	GSTZ1	cis	multi-tissue	Pritchard
rs2193594	GSTZ1	cis	lymphoblastoid	seeQTL
rs2193594	NPC2	cis	parietal	SCAN
rs2193594	GSTZ1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77751400-77786200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:77772600-77786400	Weak transcription	Aorta	Aorta
3	chr14:77773800-77786800	Weak transcription	Small Intestine	intestine
4	chr14:77775800-77786200	Weak transcription	Primary T cells from cord blood	blood
5	chr14:77776000-77786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:77776200-77786200	Weak transcription	Primary B cells from cord blood	blood
7	chr14:77779000-77786200	Enhancers	Fetal Intestine Large	intestine
8	chr14:77779400-77786400	Enhancers	Fetal Muscle Leg	muscle
9	chr14:77781200-77786400	Weak transcription	Esophagus	oesophagus
10	chr14:77781600-77786400	Weak transcription	Ovary	ovary
11	chr14:77781800-77786400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:77782000-77786200	Weak transcription	NHLF	lung
13	chr14:77782000-77786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:77782400-77786400	Enhancers	Liver	Liver
15	chr14:77782600-77786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:77782600-77786400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:77783400-77786200	Weak transcription	Thymus	Thymus
18	chr14:77783600-77786200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:77783600-77786400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr14:77783600-77786400	Weak transcription	Gastric	stomach
21	chr14:77783600-77786400	Weak transcription	Left Ventricle	heart
22	chr14:77783600-77786400	Weak transcription	Lung	lung
23	chr14:77783600-77786400	Weak transcription	Right Atrium	heart
24	chr14:77783800-77786200	Weak transcription	HSMMtube	muscle
25	chr14:77784800-77786400	Weak transcription	Psoas Muscle	Psoas
26	chr14:77785200-77786200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:77785400-77786200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:77785400-77786600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr14:77785600-77786200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:77785600-77786200	Enhancers	Colon Smooth Muscle	Colon
31	chr14:77785600-77786200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr14:77785600-77786200	Enhancers	Fetal Lung	lung
33	chr14:77785600-77786200	Enhancers	Rectal Smooth Muscle	rectum
34	chr14:77785600-77786200	Enhancers	HUVEC	blood vessel
35	chr14:77785600-77786400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:77785600-77786400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr14:77785600-77786400	Enhancers	Fetal Heart	heart
38	chr14:77785600-77786400	Enhancers	Spleen	Spleen
39	chr14:77785600-77786600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:77785600-77786600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr14:77785600-77786600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:77785600-77786600	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr14:77785600-77786600	Flanking Active TSS	Hela-S3	cervix
44	chr14:77785600-77786800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:77785600-77789000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:77785800-77786200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr14:77785800-77786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:77785800-77786200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr14:77785800-77786200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr14:77785800-77786200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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