Variant report

Variant	rs7985891
Chromosome Location	chr13:93879031-93879032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:179)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:179 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr13:93878865-93881125	HepG2	liver:	n/a	chr13:93880947-93880957
2	YY1	chr13:93878831-93879246	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr13:93878869-93879366	HepG2	liver:	n/a	n/a
4	MAX	chr13:93878885-93881104	H1-hESC	embryonic stem cell:	n/a	chr13:93880947-93880957
5	POLR2A	chr13:93878978-93879304	ECC-1	luminal epithelium:	n/a	n/a
6	TAF1	chr13:93878932-93879361	PFSK-1	brain:	n/a	n/a
7	KAP1	chr13:93878245-93881236	HEK293	kidney:	n/a	n/a
8	RAD21	chr13:93877927-93883251	SK-N-SH	brain:	n/a	chr13:93879619-93879633 chr13:93879550-93879562 chr13:93879548-93879561 chr13:93879900-93879913 chr13:93879884-93879898 chr13:93880932-93880946
9	RCOR1	chr13:93878632-93879171	HepG2	liver:	n/a	n/a
10	POLR2A	chr13:93878827-93879298	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr13:93878633-93880027	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr13:93878769-93879899	PFSK-1	brain:	n/a	n/a
13	CEBPB	chr13:93878535-93879221	HepG2	liver:	n/a	chr13:93878677-93878688
14	MYC	chr13:93878658-93879260	K562	blood:	n/a	n/a
15	FOS	chr13:93878921-93879118	MCF10A-Er-Src	breast:	n/a	chr13:93878983-93878997
16	CTCF	chr13:93878980-93879130	WERI-Rb-1	eye:	n/a	n/a
17	MAX	chr13:93878954-93879262	K562	blood:	n/a	n/a
18	MAX	chr13:93878735-93879477	HepG2	liver:	n/a	n/a
19	CEBPB	chr13:93878891-93879211	MCF-7	breast:	n/a	n/a
20	POLR2A	chr13:93878913-93881077	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr13:93878532-93881111	MCF10A-Er-Src	breast:	n/a	n/a
22	CTBP2	chr13:93878981-93881162	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr13:93878762-93880513	SK-N-SH	brain:	n/a	n/a
24	REST	chr13:93878870-93879372	PFSK-1	brain:	n/a	n/a
25	FOS	chr13:93878580-93879165	MCF10A-Er-Src	breast:	n/a	chr13:93878983-93878997 chr13:93878667-93878679
26	EP300	chr13:93878868-93879364	A549	lung:	n/a	chr13:93878941-93878955 chr13:93879103-93879117
27	POLR2A	chr13:93878882-93879468	SK-N-SH	brain:	n/a	n/a
28	MAX	chr13:93878929-93879347	K562	blood:	n/a	n/a
29	POLR2A	chr13:93878870-93881099	ProgFib	skin:	n/a	n/a
30	CTCF	chr13:93878900-93879050	AG10803	skin:	n/a	n/a
31	HEY1	chr13:93878911-93879372	HepG2	liver:	n/a	n/a
32	SMC3	chr13:93878889-93879267	HepG2	liver:	n/a	n/a
33	EP300	chr13:93878759-93881171	SK-N-SH	brain:	n/a	chr13:93878941-93878955 chr13:93880904-93880918 chr13:93879103-93879117 chr13:93879901-93879917
34	POLR2A	chr13:93878451-93881263	SK-N-MC	brain:	n/a	n/a
35	MAX	chr13:93878727-93879823	A549	lung:	n/a	n/a
36	SIN3AK20	chr13:93878916-93879394	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr13:93878877-93879204	H1-hESC	embryonic stem cell:	n/a	chr13:93878983-93878997
38	POLR2A	chr13:93878983-93879401	Gliobla	brain:	n/a	n/a
39	MAX	chr13:93878865-93879428	MCF-7	breast:	n/a	n/a
40	E2F6	chr13:93878578-93881099	K562	blood:	n/a	chr13:93880184-93880194 chr13:93879066-93879077
41	MYC	chr13:93879007-93879087	MCF-7	breast:	n/a	n/a
42	POLR2A	chr13:93878602-93880501	H1-neurons	neurons:	n/a	n/a
43	MBD4	chr13:93878787-93879312	HepG2	liver:	n/a	n/a
44	POLR2A	chr13:93878641-93881158	U87	brain:	n/a	n/a
45	MXI1	chr13:93878881-93879196	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr13:93878891-93881121	HEK293	kidney:	n/a	n/a
47	SETDB1	chr13:93878593-93879416	U2OS	brain:	n/a	n/a
48	MYC	chr13:93878886-93879194	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr13:93878951-93879353	ECC-1	luminal epithelium:	n/a	n/a
50	BACH1	chr13:93878831-93879562	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:93879022-93879072	MCF10A-Er-Src	breast:	n/a
2	chr13:93879008-93879058	ovcar-3	ovarian:	n/a
3	chr13:93879022-93879072	HCM	heart:	n/a
4	chr13:93879008-93879058	NHBE	bronchial:	n/a
5	chr13:93879008-93879058	GM12878	blood:	n/a
6	chr13:93879022-93879072	MCF-7	breast:	n/a
7	chr13:93879008-93879058	GM19239	blood:	n/a
8	chr13:93879008-93879058	PrEC	prostate:	n/a
9	chr13:93879008-93879058	HRCEpiC	kidney:	n/a
10	chr13:93879008-93879058	Hepatocyte	liver:	n/a
11	chr13:93879022-93879072	HAEpiC	amniotic membrane:	n/a
12	chr13:93879022-93879072	AG10803	skin:	n/a
13	chr13:93879022-93879072	GM12891	blood:	n/a
14	chr13:93879008-93879058	ECC-1	luminal epithelium:	n/a
15	chr13:93879008-93879058	HCPEpiC	choroid plexus:	n/a
16	chr13:93879022-93879072	HNPCEpiC	eye:	n/a
17	chr13:93879008-93879058	GM12892	blood:	n/a
18	chr13:93879022-93879072	GM12878	blood:	n/a
19	chr13:93879008-93879058	K562	blood:	n/a
20	chr13:93879008-93879058	ProgFib	skin:	n/a
21	chr13:93879008-93879058	AG09309	skin:	n/a
22	chr13:93879022-93879072	HL-60	blood:	n/a
23	chr13:93879022-93879072	HRCEpiC	kidney:	n/a
24	chr13:93879022-93879072	NB4	blood:	n/a
25	chr13:93879022-93879072	PANC-1	pancreas:	n/a
26	chr13:93879008-93879058	SK-N-MC	brain:	n/a
27	chr13:93879022-93879072	Hepatocyte	liver:	n/a
28	chr13:93879008-93879058	NHDF-neo	bronchial:	n/a
29	chr13:93879022-93879072	PFSK-1	brain:	n/a
30	chr13:93879022-93879072	HIPEpiC	eye:	n/a
31	chr13:93879022-93879072	AoSMC	blood vessel:	n/a
32	chr13:93879008-93879058	HepG2	liver:	n/a
33	chr13:93879022-93879072	HMEC	breast:	n/a
34	chr13:93879008-93879058	AG04450	lung:	fetal
35	chr13:93879022-93879072	SKMC	muscle:	n/a
36	chr13:93879022-93879072	GM12892	blood:	n/a
37	chr13:93879008-93879058	HNPCEpiC	eye:	n/a
38	chr13:93879022-93879072	Caco-2	colon:	n/a
39	chr13:93879022-93879072	Jurkat	blood:	n/a
40	chr13:93879022-93879072	HCT-116	colon:	n/a
41	chr13:93879022-93879072	A549	lung:	n/a
42	chr13:93879008-93879058	PFSK-1	brain:	n/a
43	chr13:93879008-93879058	HAEpiC	amniotic membrane:	n/a
44	chr13:93879008-93879058	BE2_C	brain:	n/a
45	chr13:93879022-93879072	HCF	heart:	n/a
46	chr13:93879022-93879072	SK-N-MC	brain:	n/a
47	chr13:93879022-93879072	H1-hESC	embryonic stem cell:	embryo
48	chr13:93879022-93879072	IMR90	lung:	fetal
49	chr13:93879008-93879058	RPTEC	kidney:	n/a
50	chr13:93879008-93879058	H1-hESC	embryonic stem cell:	embryo

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCT-16	chr13:93876780-93879077	NONHSAT034710

No data

Variant related genes	Relation type
GPC6	TF binding region
GPC6	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12583745	1.00[CEU][hapmap]
rs4389018	1.00[CEU][hapmap]
rs7989431	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7991253	1.00[CEU][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	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	24554482	GWAS catalog

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93877000-93879200	Active TSS	A549	lung
2	chr13:93878000-93881600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr13:93878000-93882800	Active TSS	Aorta	Aorta
4	chr13:93878200-93879200	Active TSS	Right Atrium	heart
5	chr13:93878200-93880600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr13:93878200-93881000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr13:93878200-93881600	Active TSS	Colon Smooth Muscle	Colon
8	chr13:93878200-93881600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr13:93878200-93882200	Active TSS	Fetal Brain Male	brain
10	chr13:93878200-93882800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr13:93878400-93880200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr13:93878400-93881400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:93878400-93881400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:93878400-93881400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:93878400-93881400	Active TSS	Rectal Smooth Muscle	rectum
16	chr13:93878400-93881600	Active TSS	Brain Anterior Caudate	brain
17	chr13:93878400-93881600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr13:93878400-93882000	Active TSS	Ovary	ovary
19	chr13:93878400-93882400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:93878400-93882600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:93878600-93879400	Active TSS	Fetal Muscle Trunk	muscle
22	chr13:93878600-93879600	Active TSS	Brain Substantia Nigra	brain
23	chr13:93878600-93879800	Active TSS	Adipose Nuclei	Adipose
24	chr13:93878600-93881000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr13:93878600-93881000	Bivalent/Poised TSS	Psoas Muscle	Psoas
26	chr13:93878600-93881200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:93878600-93881200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr13:93878600-93881200	Active TSS	Brain Angular Gyrus	brain
29	chr13:93878600-93881400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr13:93878600-93881600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:93878600-93881600	Active TSS	Brain Cingulate Gyrus	brain
32	chr13:93878600-93881600	Active TSS	HSMM	muscle
33	chr13:93878600-93881800	Active TSS	NHDF-Ad	bronchial
34	chr13:93878600-93881800	Active TSS	Osteobl	bone
35	chr13:93878600-93882000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:93878600-93882000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:93878600-93882000	Active TSS	Fetal Intestine Large	intestine
38	chr13:93878600-93882200	Active TSS	Brain Germinal Matrix	brain
39	chr13:93878600-93882400	Active TSS	NHLF	lung
40	chr13:93878800-93879200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:93878800-93879200	Active TSS	Colonic Mucosa	Colon
42	chr13:93878800-93879200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr13:93878800-93879200	Active TSS	HepG2	liver
44	chr13:93878800-93879400	Active TSS	Right Ventricle	heart
45	chr13:93878800-93879600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr13:93878800-93879600	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr13:93878800-93880600	Active TSS	Liver	Liver
48	chr13:93878800-93880800	Bivalent/Poised TSS	K562	blood
49	chr13:93878800-93881000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr13:93878800-93881000	Active TSS	Fetal Heart	heart

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