Variant report

Variant	rs6574367
Chromosome Location	chr14:77784658-77784659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:77784396-77784904	HepG2	liver:	n/a	n/a
2	MAX	chr14:77784410-77784815	HepG2	liver:	n/a	n/a
3	MAX	chr14:77784549-77784749	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr14:77784412-77784894	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77781065..77784774-chr14:77784883..77788972,8	K562	blood:
2	chr14:77783199..77786317-chr14:77922263..77925867,3	MCF-7	breast:
3	chr14:77611301..77611837-chr14:77784254..77785084,2	MCF-7	breast:
4	chr14:77782973..77788435-chr14:78081530..78084931,5	MCF-7	breast:
5	chr14:77784077..77785078-chr14:77866118..77867241,6	MCF-7	breast:
6	chr14:77784144..77784926-chr14:77866363..77867165,2	MCF-7	breast:
7	chr14:77784077..77785080-chr14:77866328..77867222,8	MCF-7	breast:
8	chr14:77782277..77784814-chr14:77790123..77792758,2	K562	blood:
9	chr14:77783570..77786058-chr14:77925180..77927873,2	K562	blood:
10	chr14:77782500..77784938-chr14:77842054..77844042,2	MCF-7	breast:
11	chr14:77669395..77671250-chr14:77783516..77785944,2	MCF-7	breast:
12	chr14:77559718..77567556-chr14:77781210..77790475,16	MCF-7	breast:

No data

Variant related genes	Relation type
GSTZ1	TF binding region
ENSG00000009830	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000100583	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10138030	0.87[JPT][hapmap]
rs11547793	0.91[JPT][hapmap]
rs11624564	0.86[CHB][hapmap]
rs11624859	0.88[ASN][1000 genomes]
rs11626281	0.86[ASN][1000 genomes]
rs11627257	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12431465	0.80[ASN][1000 genomes]
rs17105672	1.00[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs2042045	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2098380	0.82[CHB][hapmap]
rs2111699	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2193594	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]
rs2216089	0.86[CHB][hapmap]
rs2270421	0.95[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270423	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs2287387	0.95[CHB][hapmap]
rs2287388	0.91[JPT][hapmap]
rs2287392	0.91[JPT][hapmap]
rs2287395	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs2363641	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs2363642	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2363643	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759733	0.88[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3783986	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs3783988	0.91[JPT][hapmap]
rs3783989	0.91[JPT][hapmap]
rs3815626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147578	0.94[CHB][hapmap];0.81[EUR][1000 genomes]
rs4147579	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4899650	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4903567	0.95[CHB][hapmap]
rs4903569	0.91[ASN][1000 genomes]
rs59630055	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61990299	0.88[ASN][1000 genomes]
rs6574368	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67873774	0.88[ASN][1000 genomes]
rs7142812	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7158951	0.86[CHB][hapmap]
rs7159558	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs7160188	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8009261	0.86[CHB][hapmap]
rs8009733	0.86[CHB][hapmap]
rs8016187	0.90[CEU][hapmap];0.91[CHB][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6574367	AHSA1	cis	cerebellum	SCAN
rs6574367	GSTZ1	cis	lymphoblastoid	seeQTL
rs6574367	NPC2	cis	parietal	SCAN
rs6574367	GSTZ1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 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	chr14:77775800-77785600	Weak transcription	HUVEC	blood vessel
8	chr14:77775800-77786200	Weak transcription	Primary T cells from cord blood	blood
9	chr14:77776000-77786000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:77776000-77786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:77776200-77786200	Weak transcription	Primary B cells from cord blood	blood
12	chr14:77776600-77785800	Weak transcription	Fetal Brain Male	brain
13	chr14:77777000-77784800	Weak transcription	Fetal Brain Female	brain
14	chr14:77777400-77785200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr14:77778000-77785800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:77778800-77785800	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:77779000-77785800	Enhancers	Brain Anterior Caudate	brain
18	chr14:77779000-77786200	Enhancers	Fetal Intestine Large	intestine
19	chr14:77779200-77785400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:77779200-77785800	Enhancers	Brain Angular Gyrus	brain
21	chr14:77779400-77785800	Enhancers	HMEC	breast
22	chr14:77779400-77786400	Enhancers	Fetal Muscle Leg	muscle
23	chr14:77779600-77785800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:77781200-77785600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:77781200-77785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:77781200-77786000	Weak transcription	Osteobl	bone
27	chr14:77781200-77786400	Weak transcription	Esophagus	oesophagus
28	chr14:77781600-77786400	Weak transcription	Ovary	ovary
29	chr14:77781800-77785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:77781800-77785800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:77781800-77785800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:77781800-77786400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:77782000-77785600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:77782000-77785600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:77782000-77785800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:77782000-77785800	Weak transcription	Right Ventricle	heart
37	chr14:77782000-77785800	Weak transcription	NHDF-Ad	bronchial
38	chr14:77782000-77785800	Weak transcription	NHEK	skin
39	chr14:77782000-77786000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:77782000-77786200	Weak transcription	NHLF	lung
41	chr14:77782000-77786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:77782200-77785600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:77782200-77785600	Enhancers	Brain Hippocampus Middle	brain
44	chr14:77782200-77785800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:77782200-77785800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:77782200-77785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:77782200-77785800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:77782400-77785400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:77782400-77785800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:77782400-77785800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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