Variant report

Variant	rs2111699
Chromosome Location	chr14:77788597-77788598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:77786461-77788955	GM12891	blood:	n/a	n/a
2	EP300	chr14:77788338-77788630	K562	blood:	n/a	n/a
3	MYC	chr14:77788484-77788634	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr14:77786184-77789280	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:77786459-77789015	SK-N-MC	brain:	n/a	n/a
6	CTCF	chr14:77788560-77788710	HPAF	blood vessel:	n/a	n/a
7	MXI1	chr14:77786287-77789094	SK-N-SH	brain:	n/a	chr14:77786739-77786754
8	MAX	chr14:77788184-77788610	ECC-1	luminal epithelium:	n/a	n/a
9	ZNF384	chr14:77787287-77788726	K562	blood:	n/a	n/a
10	MAX	chr14:77788142-77788711	A549	lung:	n/a	n/a
11	MTA3	chr14:77788083-77788801	GM12878	blood:	n/a	n/a
12	MXI1	chr14:77786162-77788939	IMR90	lung:	n/a	chr14:77786739-77786754
13	POLR2A	chr14:77786566-77788789	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:77786601-77788722	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr14:77788564-77788692	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr14:77788520-77788670	GM12864	blood:	n/a	n/a
17	POLR2A	chr14:77786495-77789217	PBDE	blood:	n/a	n/a
18	POLR2A	chr14:77788277-77788894	K562	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77639702..77642054-chr14:77787547..77789346,2	MCF-7	breast:
2	chr14:77787369..77789536-chr14:77923983..77928279,4	K562	blood:
3	chr14:77787549..77790264-chr14:77928506..77931057,2	MCF-7	breast:
4	chr14:77785598..77789538-chr14:77924091..77927637,5	MCF-7	breast:
5	chr14:77751328..77755884-chr14:77785355..77788655,4	MCF-7	breast:
6	chr14:77605681..77608147-chr14:77785721..77788952,4	MCF-7	breast:
7	chr14:77786606..77788826-chr14:78082183..78084255,2	K562	blood:
8	chr14:77646577..77649681-chr14:77786771..77790034,4	MCF-7	breast:
9	chr14:77765577..77770355-chr14:77785292..77788769,6	K562	blood:
10	chr14:77786062..77789367-chr14:77922502..77925939,5	K562	blood:
11	chr14:77355116..77357952-chr14:77787367..77789205,2	MCF-7	breast:
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	chr14:77561613..77565836-chr14:77785735..77788648,4	K562	blood:
16	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
17	chr14:77786728..77789222-chr14:77922439..77925921,5	MCF-7	breast:
18	chr14:77788050..77790932-chr19:12894264..12897215,2	MCF-7	breast:
19	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:

No data

Variant related genes	Relation type
GSTZ1	TF binding region
POMT2	TF binding region
ENSG00000177108	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000223174	Chromatin interaction
ENSG00000268156	Chromatin interaction
ENSG00000267212	Chromatin interaction
ENSG00000269883	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000258552	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000165555	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000100596	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11547793	0.82[JPT][hapmap]
rs11624564	0.82[CHB][hapmap]
rs11624859	0.83[ASN][1000 genomes]
rs11626281	0.81[ASN][1000 genomes]
rs11627257	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs17105672	0.95[CHB][hapmap];0.83[CHD][hapmap];0.83[ASN][1000 genomes]
rs2042045	0.83[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2193594	0.86[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2216089	0.82[CHB][hapmap]
rs2270421	0.91[CHB][hapmap];0.90[CHD][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2270423	0.83[ASW][hapmap];0.82[CEU][hapmap];0.91[CHB][hapmap]
rs2287387	0.91[CHB][hapmap]
rs2287388	0.82[JPT][hapmap]
rs2287392	0.82[JPT][hapmap]
rs2287395	0.92[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap]
rs2363641	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2363642	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2363643	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2885854	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759733	0.86[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3783988	0.81[JPT][hapmap]
rs3783989	0.82[JPT][hapmap]
rs3815626	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4147578	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4147579	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899650	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4903567	0.91[CHB][hapmap]
rs4903569	0.86[ASN][1000 genomes]
rs59630055	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61990299	0.83[ASN][1000 genomes]
rs6574367	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]
rs6574368	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67873774	0.83[ASN][1000 genomes]
rs7142812	0.86[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7158951	0.86[CHB][hapmap]
rs7159558	0.86[CHB][hapmap]
rs7160188	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7160195	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7975	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8007615	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8008449	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8009261	0.82[CHB][hapmap]
rs8009733	0.82[CHB][hapmap]
rs8016187	0.95[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.83[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2111699	GSTZ1	Cis_1M	lymphoblastoid	RTeQTL
rs2111699	AHSA1	cis	cerebellum	SCAN
rs2111699	ACOT2	cis	parietal	SCAN
rs2111699	GSTZ1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77785600-77789000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:77786200-77788600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:77786400-77788600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr14:77786400-77788600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:77786400-77788600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:77786400-77788600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:77786400-77788600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:77786400-77788600	Active TSS	Aorta	Aorta
9	chr14:77786400-77788600	Active TSS	Esophagus	oesophagus
10	chr14:77786400-77788600	Active TSS	Fetal Muscle Trunk	muscle
11	chr14:77786400-77788600	Active TSS	Left Ventricle	heart
12	chr14:77786400-77788600	Active TSS	Ovary	ovary
13	chr14:77786400-77788600	Active TSS	Psoas Muscle	Psoas
14	chr14:77786400-77788600	Active TSS	Right Atrium	heart
15	chr14:77786400-77789000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr14:77786600-77788600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:77786600-77788600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:77786600-77788600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:77786600-77788600	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr14:77786600-77788600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:77786600-77788600	Active TSS	Colonic Mucosa	Colon
22	chr14:77786600-77788600	Active TSS	Fetal Intestine Large	intestine
23	chr14:77786600-77788600	Active TSS	Fetal Intestine Small	intestine
24	chr14:77786600-77788600	Active TSS	Right Ventricle	heart
25	chr14:77786600-77788600	Active TSS	Thymus	Thymus
26	chr14:77786600-77788600	Active TSS	GM12878-XiMat	blood
27	chr14:77786600-77788800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr14:77786600-77788800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr14:77786600-77788800	Active TSS	HSMM	muscle
30	chr14:77786600-77788800	Active TSS	HSMMtube	muscle
31	chr14:77786600-77789000	Active TSS	NHLF	lung
32	chr14:77786800-77788600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:77786800-77788600	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr14:77788000-77788600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr14:77788000-77788600	Weak transcription	Spleen	Spleen
36	chr14:77788000-77788800	Weak transcription	Gastric	stomach
37	chr14:77788200-77788600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr14:77788200-77788600	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr14:77788200-77788600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:77788200-77788600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:77788200-77788600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr14:77788200-77788600	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr14:77788200-77788600	Flanking Active TSS	Placenta	Placenta
44	chr14:77788200-77788600	Flanking Active TSS	Fetal Stomach	stomach
45	chr14:77788200-77788600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr14:77788200-77788600	Flanking Active TSS	HepG2	liver
47	chr14:77788200-77788600	Flanking Active TSS	NH-A	brain
48	chr14:77788200-77788800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr14:77788200-77788800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr14:77788200-77788800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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