Variant report

Variant	rs3756074
Chromosome Location	chr4:74848065-74848066
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr4:74847830-74848138	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:74848016-74848066	ovcar-3	ovarian:	n/a
2	chr4:74848016-74848066	GM06990	blood:	n/a
3	chr4:74848016-74848066	HCPEpiC	choroid plexus:	n/a
4	chr4:74848016-74848066	HIPEpiC	eye:	n/a
5	chr4:74848016-74848066	GM12891	blood:	n/a
6	chr4:74848016-74848066	HCF	heart:	n/a
7	chr4:74848016-74848066	HL-60	blood:	n/a
8	chr4:74848016-74848066	HCM	heart:	n/a
9	chr4:74848016-74848066	NHDF-neo	bronchial:	n/a
10	chr4:74848016-74848066	HPAEpiC	pulmonary alveolar:	n/a
11	chr4:74848016-74848066	HEK293	kidney:	embryo
12	chr4:74848016-74848066	HNPCEpiC	eye:	n/a
13	chr4:74848016-74848066	HEEpiC	esophagus:	n/a
14	chr4:74848016-74848066	PFSK-1	brain:	n/a
15	chr4:74848016-74848066	NB4	blood:	n/a
16	chr4:74848016-74848066	U87	brain:	n/a
17	chr4:74848016-74848066	SK-N-SH_RA	brain:	n/a
18	chr4:74848016-74848066	BJ	skin:	n/a
19	chr4:74848016-74848066	GM19239	blood:	n/a
20	chr4:74848016-74848066	MCF-7	breast:	n/a
21	chr4:74848016-74848066	AG09319	gingival:	n/a
22	chr4:74848016-74848066	HAEpiC	amniotic membrane:	n/a
23	chr4:74848016-74848066	Hepatocyte	liver:	n/a
24	chr4:74848016-74848066	HRPEpiC	eye:	n/a
25	chr4:74848016-74848066	GM12878	blood:	n/a
26	chr4:74848016-74848066	PrEC	prostate:	n/a
27	chr4:74848016-74848066	K562	blood:	n/a
28	chr4:74848016-74848066	CMK	blood:	n/a
29	chr4:74848016-74848066	SK-N-MC	brain:	n/a
30	chr4:74848016-74848066	HUVEC	blood vessel:	n/a
31	chr4:74848016-74848066	MCF10A-Er-Src	breast:	n/a
32	chr4:74848016-74848066	BE2_C	brain:	n/a
33	chr4:74848016-74848066	SAEC	small airway:	n/a
34	chr4:74848016-74848066	SKMC	muscle:	n/a
35	chr4:74848016-74848066	ECC-1	luminal epithelium:	n/a
36	chr4:74848016-74848066	IMR90	lung:	fetal
37	chr4:74848016-74848066	Caco-2	colon:	n/a
38	chr4:74848016-74848066	A549	lung:	n/a
39	chr4:74848016-74848066	ProgFib	skin:	n/a
40	chr4:74848016-74848066	RPTEC	kidney:	n/a
41	chr4:74848016-74848066	HCT-116	colon:	n/a
42	chr4:74848016-74848066	T-47D	breast:	n/a
43	chr4:74848016-74848066	AG10803	skin:	n/a
44	chr4:74848016-74848066	AoSMC	blood vessel:	n/a
45	chr4:74848016-74848066	HRCEpiC	kidney:	n/a
46	chr4:74848016-74848066	SK-N-SH	brain:	n/a
47	chr4:74848016-74848066	HMEC	breast:	n/a
48	chr4:74848016-74848066	Jurkat	blood:	n/a
49	chr4:74848016-74848066	LNCaP	prostate:	n/a
50	chr4:74848016-74848066	AG04449	skin:	fetal

No data

Variant related genes	Relation type
PF4	TF binding region
PF4	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10518117	1.00[CEU][hapmap]
rs11574450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435520	1.00[CEU][hapmap]
rs1511815	1.00[CEU][hapmap]
rs16850360	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1951233	1.00[CEU][hapmap]
rs1957069	1.00[CEU][hapmap]
rs2145614	0.85[CEU][hapmap]
rs2180883	0.85[CEU][hapmap]
rs3111693	0.85[CEU][hapmap]
rs3117602	0.85[CEU][hapmap]
rs353042	1.00[CEU][hapmap]
rs6813952	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74837000-74850800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:74845200-74850600	Weak transcription	NHDF-Ad	bronchial
3	chr4:74845400-74853400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:74845600-74853000	Weak transcription	K562	blood
5	chr4:74846200-74849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:74847000-74848600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:74847200-74848200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:74847400-74848400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:74847600-74848200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:74847600-74848200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:74847600-74848200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:74847600-74848800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr4:74847600-74849400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:74847600-74850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:74847800-74848200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:74847800-74848200	Enhancers	Colon Smooth Muscle	Colon
17	chr4:74847800-74848200	Enhancers	HSMM	muscle
18	chr4:74847800-74848400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:74847800-74848600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:74847800-74849000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:74847800-74849200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:74847800-74850000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:74847800-74852000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:74848000-74848200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:74848000-74848200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:74848000-74848200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:74848000-74848200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:74848000-74848400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:74848000-74848400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:74848000-74848600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:74848000-74848800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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