Variant report

Variant	rs13383733
Chromosome Location	chr2:233734820-233734821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:233734109-233737469	HepG2	liver:	n/a	n/a
2	HDAC2	chr2:233734379-233734882	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:233734521-233735138	HepG2	liver:	n/a	n/a
4	TBP	chr2:233734431-233735099	HepG2	liver:	n/a	n/a
5	ELF1	chr2:233734269-233734937	HepG2	liver:	n/a	chr2:233734404-233734415 chr2:233734796-233734807
6	MAZ	chr2:233734745-233734976	HepG2	liver:	n/a	chr2:233734889-233734899
7	POLR2A	chr2:233734435-233735332	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:233733915-233737373	HepG2	liver:	n/a	n/a
9	FOSL2	chr2:233733977-233734863	HepG2	liver:	n/a	n/a
10	HEY1	chr2:233734329-233735221	HepG2	liver:	n/a	n/a
11	MYBL2	chr2:233734178-233735026	HepG2	liver:	n/a	n/a
12	HEY1	chr2:233734467-233735286	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:233734116-233737517	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:233734186-233735419	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:233733826-233734854	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:233734820-233734870	NT2-D1	testis:	n/a
2	chr2:233734820-233734870	LNCaP	prostate:	n/a
3	chr2:233734820-233734870	HCPEpiC	choroid plexus:	n/a
4	chr2:233734820-233734870	T-47D	breast:	n/a
5	chr2:233734820-233734870	Jurkat	blood:	n/a
6	chr2:233734820-233734870	SKMC	muscle:	n/a
7	chr2:233734820-233734870	HIPEpiC	eye:	n/a
8	chr2:233734820-233734870	Hela-S3	cervix:	n/a
9	chr2:233734820-233734870	RPTEC	kidney:	n/a
10	chr2:233734820-233734870	NB4	blood:	n/a
11	chr2:233734820-233734870	SAEC	small airway:	n/a
12	chr2:233734820-233734870	ProgFib	skin:	n/a
13	chr2:233734820-233734870	A549	lung:	n/a
14	chr2:233734820-233734870	SK-N-SH	brain:	n/a
15	chr2:233734820-233734870	NHDF-neo	bronchial:	n/a
16	chr2:233734820-233734870	GM12892	blood:	n/a
17	chr2:233734820-233734870	HRE	kidney:	n/a
18	chr2:233734820-233734870	MCF10A-Er-Src	breast:	n/a
19	chr2:233734820-233734870	U87	brain:	n/a
20	chr2:233734820-233734870	ECC-1	luminal epithelium:	n/a
21	chr2:233734820-233734870	Caco-2	colon:	n/a
22	chr2:233734820-233734870	PFSK-1	brain:	n/a
23	chr2:233734820-233734870	NHBE	bronchial:	n/a
24	chr2:233734820-233734870	HAEpiC	amniotic membrane:	n/a
25	chr2:233734820-233734870	GM12891	blood:	n/a
26	chr2:233734820-233734870	HPAEpiC	pulmonary alveolar:	n/a
27	chr2:233734820-233734870	MCF-7	breast:	n/a
28	chr2:233734820-233734870	HCF	heart:	n/a
29	chr2:233734820-233734870	AG04450	lung:	fetal
30	chr2:233734820-233734870	NH-A	brain:	n/a
31	chr2:233734820-233734870	BJ	skin:	n/a
32	chr2:233734820-233734870	BE2_C	brain:	n/a
33	chr2:233734820-233734870	HRCEpiC	kidney:	n/a
34	chr2:233734820-233734870	AoSMC	blood vessel:	n/a
35	chr2:233734820-233734870	GM19239	blood:	n/a
36	chr2:233734820-233734870	HepG2	liver:	n/a
37	chr2:233734820-233734870	GM12878	blood:	n/a
38	chr2:233734820-233734870	AG09309	skin:	n/a
39	chr2:233734820-233734870	HCM	heart:	n/a
40	chr2:233734820-233734870	ovcar-3	ovarian:	n/a
41	chr2:233734820-233734870	CMK	blood:	n/a
42	chr2:233734820-233734870	HCT-116	colon:	n/a
43	chr2:233734820-233734870	HMEC	breast:	n/a
44	chr2:233734820-233734870	HEK293	kidney:	embryo
45	chr2:233734820-233734870	Hepatocyte	liver:	n/a
46	chr2:233734820-233734870	HNPCEpiC	eye:	n/a
47	chr2:233734820-233734870	GM06990	blood:	n/a
48	chr2:233734820-233734870	AG10803	skin:	n/a
49	chr2:233734820-233734870	AG09319	gingival:	n/a
50	chr2:233734820-233734870	HUVEC	blood vessel:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233733606..233736774-chr2:233738541..233741120,3	K562	blood:
2	chr2:233733606..233736578-chr2:233738541..233742093,3	K562	blood:

No data

Variant related genes	Relation type
C2orf82	TF binding region
C2orf82	CpG island
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10178713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10207739	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs11679581	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11684636	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap]
rs11689661	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11694000	0.82[TSI][hapmap]
rs11904619	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12052869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12328140	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12328151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12694915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs12988087	0.80[AMR][1000 genomes]
rs12992588	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13012585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13035517	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13387762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13390935	0.86[CHB][hapmap]
rs13401578	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13408229	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs13424896	0.95[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13425918	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1446307	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2044450	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2048866	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2289914	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2289915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2292724	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2292725	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2293782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28491817	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34063802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs34652626	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35141217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62193305	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6437073	0.86[TSI][hapmap]
rs6747479	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs6751801	0.86[TSI][hapmap]
rs73005582	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9288675	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs9288676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9808146	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv999116	chr2:233733352-233759864	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1007029	chr2:233733352-233760519	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13383733	COPS7B	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233722800-233738000	Weak transcription	Stomach Mucosa	stomach
2	chr2:233723000-233740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:233723200-233736600	Weak transcription	Colonic Mucosa	Colon
4	chr2:233723200-233738600	Weak transcription	K562	blood
5	chr2:233723600-233735200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:233723600-233736400	Weak transcription	Right Ventricle	heart
7	chr2:233723600-233736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:233724000-233736000	Weak transcription	Fetal Brain Male	brain
9	chr2:233724200-233738600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:233724600-233738600	Weak transcription	Esophagus	oesophagus
11	chr2:233725000-233735800	Weak transcription	Fetal Thymus	thymus
12	chr2:233726000-233737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:233726000-233740400	Weak transcription	HMEC	breast
14	chr2:233726200-233735000	Weak transcription	Brain Angular Gyrus	brain
15	chr2:233726200-233735600	Weak transcription	Osteobl	bone
16	chr2:233726200-233737400	Weak transcription	Fetal Brain Female	brain
17	chr2:233726400-233735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:233726400-233735000	Weak transcription	Spleen	Spleen
19	chr2:233726400-233736000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:233726400-233736200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:233726400-233736200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:233726400-233738200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:233726400-233739000	Weak transcription	Thymus	Thymus
24	chr2:233726400-233740200	Weak transcription	Primary B cells from cord blood	blood
25	chr2:233726400-233740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:233726400-233740800	Weak transcription	HSMM	muscle
27	chr2:233726600-233735800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:233726600-233736000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:233726600-233736200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:233726600-233737800	Weak transcription	Brain Germinal Matrix	brain
31	chr2:233726600-233738200	Weak transcription	Gastric	stomach
32	chr2:233726600-233738400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:233726600-233738400	Weak transcription	Placenta	Placenta
34	chr2:233726600-233738800	Weak transcription	NHLF	lung
35	chr2:233726600-233739000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:233726600-233739200	Weak transcription	Left Ventricle	heart
37	chr2:233726600-233739800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:233726600-233740000	Weak transcription	Pancreas	Pancrea
39	chr2:233726600-233740200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:233726600-233740400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:233726600-233740400	Weak transcription	Lung	lung
42	chr2:233726600-233740400	Weak transcription	NHEK	skin
43	chr2:233726800-233735200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:233726800-233736400	Weak transcription	Fetal Intestine Large	intestine
45	chr2:233726800-233736600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:233726800-233755600	Weak transcription	HSMMtube	muscle
47	chr2:233727000-233735000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:233727800-233735000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:233727800-233736000	Weak transcription	A549	lung
50	chr2:233727800-233736200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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