Variant report

Variant	rs4001033
Chromosome Location	chr4:122790485-122790486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr4:122790441-122792314	SK-N-SH	brain:	n/a	n/a
2	MAFK	chr4:122790383-122790778	HepG2	liver:	n/a	n/a
3	MAFK	chr4:122790432-122790781	HepG2	liver:	n/a	n/a
4	MAFF	chr4:122790403-122790736	K562	blood:	n/a	n/a
5	MAFK	chr4:122790426-122790788	IMR90	lung:	n/a	n/a
6	MAFF	chr4:122790426-122790786	HepG2	liver:	n/a	n/a
7	CUX1	chr4:122790358-122790555	K562	blood:	n/a	n/a
8	MAFK	chr4:122790459-122790755	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr4:122790355-122790540	SH-SY5Y	brain:	n/a	n/a
10	MAFK	chr4:122790388-122790735	K562	blood:	n/a	n/a
11	MXI1	chr4:122790346-122792207	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122743665..122745647-chr4:122789959..122792844,2	K562	blood:
2	chr4:122743937..122745709-chr4:122789073..122792833,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261501	TF binding region
ENSG00000145386	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11933339	0.83[AMR][1000 genomes]
rs11934168	0.83[AMR][1000 genomes]
rs1507987	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1507988	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17005269	0.83[AMR][1000 genomes]
rs17005276	0.83[AMR][1000 genomes]
rs2390228	1.00[EUR][1000 genomes]
rs2621220	1.00[EUR][1000 genomes]
rs2661556	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2706789	1.00[EUR][1000 genomes]
rs2706794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2706797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2706801	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3217770	0.83[AMR][1000 genomes]
rs34669312	0.83[AMR][1000 genomes]
rs3749475	0.86[CHB][hapmap]
rs3762839	0.86[CHB][hapmap]
rs3811743	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4132552	0.83[AMR][1000 genomes]
rs61639241	0.83[AMR][1000 genomes]
rs72915930	0.83[AMR][1000 genomes]
rs72915936	0.83[AMR][1000 genomes]
rs72915942	0.83[AMR][1000 genomes]
rs72915943	0.83[AMR][1000 genomes]
rs72915957	0.83[AMR][1000 genomes]
rs72915958	0.83[AMR][1000 genomes]
rs72917987	0.83[AMR][1000 genomes]
rs72917996	0.83[AMR][1000 genomes]
rs72918000	0.83[AMR][1000 genomes]
rs72919903	0.83[AMR][1000 genomes]
rs72919909	0.83[AMR][1000 genomes]
rs769235	0.83[AMR][1000 genomes]
rs769240	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122745400-122790600	Weak transcription	Small Intestine	intestine
2	chr4:122745600-122790600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:122745600-122790800	Weak transcription	Psoas Muscle	Psoas
4	chr4:122745800-122790800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:122755400-122790800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:122760600-122791000	Weak transcription	Spleen	Spleen
7	chr4:122764600-122790600	Weak transcription	Colonic Mucosa	Colon
8	chr4:122768000-122790600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:122768000-122790600	Weak transcription	Right Ventricle	heart
10	chr4:122768200-122790600	Weak transcription	Esophagus	oesophagus
11	chr4:122768200-122790600	Weak transcription	HSMMtube	muscle
12	chr4:122768200-122790800	Weak transcription	Aorta	Aorta
13	chr4:122768200-122790800	Weak transcription	Gastric	stomach
14	chr4:122770600-122790600	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:122771000-122790800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:122775200-122790600	Weak transcription	Stomach Mucosa	stomach
17	chr4:122776600-122790800	Weak transcription	Ovary	ovary
18	chr4:122778400-122790600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:122779400-122790600	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:122779400-122790600	Weak transcription	Lung	lung
21	chr4:122780000-122790600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:122782400-122790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:122784000-122790600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:122784200-122790600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:122784200-122790600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:122784200-122790600	Weak transcription	Liver	Liver
27	chr4:122784200-122790600	Weak transcription	Placenta	Placenta
28	chr4:122784200-122790600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:122784400-122790600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:122785400-122790600	Weak transcription	Left Ventricle	heart
31	chr4:122785400-122790800	Weak transcription	Pancreas	Pancrea
32	chr4:122785600-122790600	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:122787200-122790600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:122788000-122790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:122788200-122790600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:122788200-122790600	Weak transcription	Fetal Thymus	thymus
37	chr4:122789000-122790600	Weak transcription	Right Atrium	heart
38	chr4:122789200-122790600	Weak transcription	HSMM	muscle
39	chr4:122790000-122790600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:122790000-122790600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:122790000-122790600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr4:122790000-122790600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr4:122790000-122790600	Enhancers	NH-A	brain
44	chr4:122790000-122790600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr4:122790000-122790800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:122790000-122790800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:122790000-122790800	Flanking Active TSS	Fetal Brain Male	brain
48	chr4:122790000-122791000	Enhancers	Fetal Heart	heart
49	chr4:122790000-122791200	Flanking Active TSS	Dnd41	blood
50	chr4:122790000-122792000	Active TSS	Brain Inferior Temporal Lobe	brain

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