Variant report

Variant	rs2363642
Chromosome Location	chr14:77785621-77785622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 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	chr14:77785598..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	chr14:77785518..77787393-chr14:77882110..77884811,2	K562	blood:
8	chr14:77783570..77786058-chr14:77925180..77927873,2	K562	blood:
9	chr14:77669395..77671250-chr14:77783516..77785944,2	MCF-7	breast:
10	chr14:77765577..77770355-chr14:77785292..77788769,6	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:

No data

Variant related genes	Relation type
ENSG00000177108	Chromatin interaction
ENSG00000268156	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000269883	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000165555	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11624859	0.94[ASN][1000 genomes]
rs11626281	0.92[ASN][1000 genomes]
rs11627257	0.94[ASN][1000 genomes]
rs12431465	0.84[ASN][1000 genomes]
rs17105672	0.94[ASN][1000 genomes]
rs2042045	0.89[ASN][1000 genomes]
rs2111699	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2193594	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270421	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270423	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287387	0.83[ASN][1000 genomes]
rs2287395	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2363641	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363643	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2885854	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3815626	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4147578	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4147579	0.81[EUR][1000 genomes]
rs4899650	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4903567	0.83[ASN][1000 genomes]
rs4903568	0.83[ASN][1000 genomes]
rs4903569	0.85[ASN][1000 genomes]
rs59630055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990299	0.94[ASN][1000 genomes]
rs6574367	0.85[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	0.89[ASN][1000 genomes]
rs7160188	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160195	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8007615	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8008449	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016187	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2363642	GSTZ1	cis	Esophagus Mucosa	GTEx
rs2363642	GSTZ1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 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	chr14:77770800-77785800	Weak transcription	K562	blood
3	chr14:77772600-77785800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:77772600-77786400	Weak transcription	Aorta	Aorta
5	chr14:77772800-77785800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:77773800-77786800	Weak transcription	Small Intestine	intestine
7	chr14:77775800-77786200	Weak transcription	Primary T cells from cord blood	blood
8	chr14:77776000-77786000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:77776000-77786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:77776200-77786200	Weak transcription	Primary B cells from cord blood	blood
11	chr14:77776600-77785800	Weak transcription	Fetal Brain Male	brain
12	chr14:77778000-77785800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:77778800-77785800	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:77779000-77785800	Enhancers	Brain Anterior Caudate	brain
15	chr14:77779000-77786200	Enhancers	Fetal Intestine Large	intestine
16	chr14:77779200-77785800	Enhancers	Brain Angular Gyrus	brain
17	chr14:77779400-77785800	Enhancers	HMEC	breast
18	chr14:77779400-77786400	Enhancers	Fetal Muscle Leg	muscle
19	chr14:77779600-77785800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:77781200-77785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:77781200-77786000	Weak transcription	Osteobl	bone
22	chr14:77781200-77786400	Weak transcription	Esophagus	oesophagus
23	chr14:77781600-77786400	Weak transcription	Ovary	ovary
24	chr14:77781800-77785800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:77781800-77785800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:77781800-77786400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:77782000-77785800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:77782000-77785800	Weak transcription	Right Ventricle	heart
29	chr14:77782000-77785800	Weak transcription	NHDF-Ad	bronchial
30	chr14:77782000-77785800	Weak transcription	NHEK	skin
31	chr14:77782000-77786000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:77782000-77786200	Weak transcription	NHLF	lung
33	chr14:77782000-77786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr14:77782200-77785800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:77782200-77785800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:77782200-77785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:77782200-77785800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:77782400-77785800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:77782400-77785800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:77782400-77785800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:77782400-77785800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:77782400-77785800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:77782400-77786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:77782400-77786400	Enhancers	Liver	Liver
45	chr14:77782600-77786000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr14:77782600-77786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:77782600-77786400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:77782800-77786000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:77782800-77786000	Weak transcription	Placenta	Placenta
50	chr14:77783200-77785800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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