Variant report

Variant	rs5030526
Chromosome Location	chr4:110622986-110622987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr4:110622649-110623155	K562	blood:	n/a	n/a
2	POLR2A	chr4:110622699-110625610	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:110622855-110623020	K562	blood:	n/a	n/a
4	MAZ	chr4:110622817-110623535	K562	blood:	n/a	chr4:110623059-110623069
5	EP300	chr4:110622782-110623040	K562	blood:	n/a	n/a
6	JUND	chr4:110622887-110623257	K562	blood:	n/a	n/a
7	TEAD4	chr4:110622672-110623494	K562	blood:	n/a	n/a
8	MYC	chr4:110622810-110623555	K562	blood:	n/a	chr4:110623059-110623069 chr4:110623376-110623386
9	POLR2A	chr4:110622805-110623031	K562	blood:	n/a	n/a
10	ZMIZ1	chr4:110622838-110623093	K562	blood:	n/a	n/a
11	POLR2A	chr4:110622975-110623546	HepG2	liver:	n/a	n/a
12	TEAD4	chr4:110622696-110623088	K562	blood:	n/a	n/a
13	CCNT2	chr4:110622731-110623338	K562	blood:	n/a	chr4:110622919-110622939
14	ZNF384	chr4:110622608-110623035	K562	blood:	n/a	n/a
15	POLR2A	chr4:110622902-110625466	GM12878	blood:	n/a	n/a
16	TAL1	chr4:110622732-110623100	K562	blood:	n/a	chr4:110622921-110622939
17	POLR2A	chr4:110622936-110623551	K562	blood:	n/a	n/a
18	GATA1	chr4:110622643-110623320	PBDE	blood:	n/a	chr4:110622921-110622928 chr4:110622922-110622939
19	RCOR1	chr4:110622758-110623450	K562	blood:	n/a	n/a
20	GATA2	chr4:110622684-110623059	K562	blood:	n/a	chr4:110622921-110622928 chr4:110622922-110622939
21	POLR2A	chr4:110622873-110623047	GM12878	blood:	n/a	n/a
22	MAZ	chr4:110622909-110625527	IMR90	lung:	n/a	chr4:110623059-110623069
23	POLR2A	chr4:110622798-110623592	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr4:110622860-110623014	MCF10A-Er-Src	breast:	n/a	n/a
25	BHLHE40	chr4:110622843-110623136	K562	blood:	n/a	n/a
26	MAX	chr4:110622916-110623514	K562	blood:	n/a	chr4:110623059-110623069 chr4:110623376-110623386

No.	Distal block	Cell Line	Cell type
1	chr4:110622125..110626663-chr4:110647059..110653148,13	MCF-7	breast:
2	chr4:110620445..110623344-chr4:110627846..110630459,3	K562	blood:
3	chr4:110621753..110625851-chr4:110723328..110725382,3	MCF-7	breast:
4	chr4:110614175..110617352-chr4:110621711..110624911,3	K562	blood:
5	chr4:110621463..110624410-chr4:110832783..110835223,2	K562	blood:
6	chr4:110618563..110622220-chr4:110622548..110625878,6	K562	blood:
7	chr4:110622297..110625771-chr4:110735143..110738902,5	K562	blood:
8	chr4:110621787..110624443-chr4:110734368..110736643,3	K562	blood:
9	chr4:110611889..110614128-chr4:110622707..110624451,2	MCF-7	breast:
10	chr4:110622109..110625008-chr4:110733953..110738254,7	MCF-7	breast:

Variant related genes	Relation type
CASP6	TF binding region
ENSG00000273447	Chromatin interaction
ENSG00000123739	Chromatin interaction
ENSG00000272795	Chromatin interaction
ENSG00000109534	Chromatin interaction
ENSG00000205403	Chromatin interaction
ENSG00000138794	Chromatin interaction
ENSG00000138798	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2062970	1.00[CEU][hapmap]
rs58255369	0.93[ASN][1000 genomes]
rs60362391	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv595142	chr4:110609481-110656730	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110572600-110623200	Weak transcription	Esophagus	oesophagus
2	chr4:110589600-110623200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:110607800-110623200	Weak transcription	Brain Angular Gyrus	brain
4	chr4:110609600-110623000	Weak transcription	A549	lung
5	chr4:110609800-110623200	Weak transcription	Psoas Muscle	Psoas
6	chr4:110611000-110623200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:110611200-110623800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:110611600-110623200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:110612200-110623000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:110613000-110623200	Weak transcription	Brain Anterior Caudate	brain
11	chr4:110614200-110623000	Weak transcription	NHLF	lung
12	chr4:110614200-110623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:110614400-110623000	Weak transcription	NH-A	brain
14	chr4:110615400-110623200	Weak transcription	Aorta	Aorta
15	chr4:110615600-110623000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:110615800-110623000	Weak transcription	Fetal Kidney	kidney
17	chr4:110615800-110623200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:110616000-110623000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:110616000-110623200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:110617200-110623000	Weak transcription	Osteobl	bone
21	chr4:110617400-110623200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:110619000-110623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:110619000-110623200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:110619200-110623000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:110619400-110623000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:110620000-110623000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:110620000-110623000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:110620000-110623200	Enhancers	Liver	Liver
29	chr4:110620600-110623200	Enhancers	Stomach Mucosa	stomach
30	chr4:110620800-110623000	Weak transcription	Gastric	stomach
31	chr4:110621600-110623000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:110622200-110623000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr4:110622200-110623000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr4:110622200-110623200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:110622400-110623000	Enhancers	Primary T cells from cord blood	blood
36	chr4:110622400-110623000	Enhancers	Fetal Brain Female	brain
37	chr4:110622400-110623000	Genic enhancers	Fetal Thymus	thymus
38	chr4:110622400-110623000	Enhancers	Small Intestine	intestine
39	chr4:110622600-110623000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:110622600-110623000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:110622600-110623000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:110622600-110623000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:110622600-110623000	Enhancers	Colonic Mucosa	Colon
44	chr4:110622600-110623000	Enhancers	Fetal Heart	heart
45	chr4:110622600-110623000	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr4:110622600-110623000	Enhancers	Fetal Lung	lung
47	chr4:110622600-110623000	Enhancers	Fetal Stomach	stomach
48	chr4:110622600-110623000	Flanking Active TSS	HepG2	liver
49	chr4:110622600-110623000	Enhancers	HUVEC	blood vessel
50	chr4:110622600-110623200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links