Variant report

Variant	rs13151759
Chromosome Location	chr4:46995653-46995654
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:46995582-46995772	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr4:46995369-46996221	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:46994742-46995958	H1-neurons	neurons:	n/a	n/a
4	MAX	chr4:46995286-46996357	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr4:46995515-46995872	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr4:46995577-46996092	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:46995129-46995927	H1-neurons	neurons:	n/a	n/a
8	TBP	chr4:46995328-46995872	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr4:46995226-46996108	H1-hESC	embryonic stem cell:	n/a	chr4:46995742-46995751

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:46995637-46995687	MCF10A-Er-Src	breast:	n/a
2	chr4:46995637-46995687	HL-60	blood:	n/a
3	chr4:46995637-46995687	Hepatocyte	liver:	n/a
4	chr4:46995637-46995687	AG09319	gingival:	n/a
5	chr4:46995637-46995687	MCF-7	breast:	n/a
6	chr4:46995637-46995687	PFSK-1	brain:	n/a
7	chr4:46995637-46995687	SAEC	small airway:	n/a
8	chr4:46995637-46995687	AG04450	lung:	fetal
9	chr4:46995637-46995687	RPTEC	kidney:	n/a
10	chr4:46995637-46995687	HEEpiC	esophagus:	n/a
11	chr4:46995637-46995687	HNPCEpiC	eye:	n/a
12	chr4:46995637-46995687	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:46995637-46995687	NT2-D1	testis:	n/a
14	chr4:46995637-46995687	Jurkat	blood:	n/a
15	chr4:46995637-46995687	AG09309	skin:	n/a
16	chr4:46995637-46995687	PANC-1	pancreas:	n/a
17	chr4:46995637-46995687	ProgFib	skin:	n/a
18	chr4:46995637-46995687	GM12892	blood:	n/a
19	chr4:46995637-46995687	HepG2	liver:	n/a
20	chr4:46995637-46995687	HRE	kidney:	n/a
21	chr4:46995637-46995687	IMR90	lung:	fetal
22	chr4:46995637-46995687	AG04449	skin:	fetal
23	chr4:46995637-46995687	T-47D	breast:	n/a
24	chr4:46995637-46995687	SK-N-SH_RA	brain:	n/a
25	chr4:46995637-46995687	NB4	blood:	n/a
26	chr4:46995637-46995687	NHDF-neo	bronchial:	n/a
27	chr4:46995637-46995687	HUVEC	blood vessel:	n/a
28	chr4:46995637-46995687	HRPEpiC	eye:	n/a
29	chr4:46995637-46995687	AoSMC	blood vessel:	n/a
30	chr4:46995637-46995687	BJ	skin:	n/a
31	chr4:46995637-46995687	Caco-2	colon:	n/a
32	chr4:46995637-46995687	GM06990	blood:	n/a
33	chr4:46995637-46995687	HCPEpiC	choroid plexus:	n/a
34	chr4:46995637-46995687	HEK293	kidney:	embryo
35	chr4:46995637-46995687	GM12878	blood:	n/a
36	chr4:46995637-46995687	HIPEpiC	eye:	n/a
37	chr4:46995637-46995687	PrEC	prostate:	n/a
38	chr4:46995637-46995687	ECC-1	luminal epithelium:	n/a
39	chr4:46995637-46995687	BE2_C	brain:	n/a
40	chr4:46995637-46995687	NHBE	bronchial:	n/a
41	chr4:46995637-46995687	HCM	heart:	n/a
42	chr4:46995637-46995687	SK-N-MC	brain:	n/a
43	chr4:46995637-46995687	K562	blood:	n/a
44	chr4:46995637-46995687	SK-N-SH	brain:	n/a
45	chr4:46995637-46995687	HCT-116	colon:	n/a
46	chr4:46995637-46995687	HAEpiC	amniotic membrane:	n/a
47	chr4:46995637-46995687	A549	lung:	n/a
48	chr4:46995637-46995687	CMK	blood:	n/a
49	chr4:46995637-46995687	NH-A	brain:	n/a
50	chr4:46995637-46995687	GM12891	blood:	n/a

No data

Variant related genes	Relation type
GABRB1	TF binding region
GABRA4	TF binding region
GABRA4	CpG island
GABRB1	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13151769	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][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]
rs2229940	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3792211	0.91[CEU][hapmap];0.90[CHD][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7683042	0.87[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470031	chr4:46982218-47006399	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13151759	DEPDC1B	trans	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:46993400-46997400	Active TSS	Brain Angular Gyrus	brain
2	chr4:46993400-46997600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:46994000-46997400	Active TSS	Brain Anterior Caudate	brain
4	chr4:46994200-46996400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr4:46994400-46996600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:46994400-46996600	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr4:46994600-46995800	Bivalent/Poised TSS	Right Ventricle	heart
8	chr4:46994600-46996600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr4:46994800-46995800	Bivalent Enhancer	Placenta	Placenta
10	chr4:46994800-46996000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:46994800-46996600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr4:46994800-46996600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr4:46994800-46996600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr4:46994800-46996600	Active TSS	Fetal Heart	heart
15	chr4:46994800-46997000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr4:46995000-46995800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr4:46995000-46995800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:46995000-46996000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr4:46995000-46996000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:46995000-46996200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:46995000-46996200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
22	chr4:46995000-46996400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:46995000-46996400	Bivalent/Poised TSS	Colonic Mucosa	Colon
24	chr4:46995000-46996400	Flanking Bivalent TSS/Enh	NH-A	brain
25	chr4:46995000-46996600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr4:46995000-46996600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:46995000-46996600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:46995000-46996600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:46995000-46996800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:46995000-46996800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr4:46995200-46995800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr4:46995200-46995800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr4:46995200-46996000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:46995200-46996200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:46995200-46996200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:46995200-46996200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:46995200-46996200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:46995200-46996200	Bivalent/Poised TSS	Left Ventricle	heart
39	chr4:46995200-46996200	ZNF genes & repeats	Lung	lung
40	chr4:46995200-46996200	Bivalent Enhancer	Spleen	Spleen
41	chr4:46995200-46996400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:46995200-46996400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:46995200-46996400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:46995200-46996400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:46995200-46996400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:46995200-46996400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:46995200-46996400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:46995200-46996400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr4:46995200-46996400	Bivalent/Poised TSS	Fetal Thymus	thymus
50	chr4:46995200-46996400	Active TSS	Right Atrium	heart

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