Variant report

Variant	rs6812740
Chromosome Location	chr4:175444802-175444803
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	GATA1	chr4:175443198-175445019	PBDE	blood:	n/a	n/a
2	TCF12	chr4:175442755-175444887	A549	lung:	n/a	chr4:175442907-175442914
3	GATA3	chr4:175444384-175444812	SH-SY5Y	brain:	n/a	n/a
4	GATA1	chr4:175444494-175444817	PBDEFetal	blood:	n/a	n/a
5	KAP1	chr4:175442881-175444969	HEK293	kidney:	n/a	n/a
6	FOS	chr4:175444784-175444884	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA2	chr4:175444216-175444857	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
HPGD	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17524423	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17553108	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45535235	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62332169	0.87[EUR][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	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv880884	chr4:175439056-175453830	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175440800-175446000	Active TSS	Duodenum Mucosa	Duodenum
2	chr4:175442000-175445200	Active TSS	A549	lung
3	chr4:175442400-175445400	Active TSS	Fetal Intestine Large	intestine
4	chr4:175442600-175445200	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:175442600-175445400	Active TSS	Colon Smooth Muscle	Colon
6	chr4:175442600-175445400	Active TSS	Stomach Mucosa	stomach
7	chr4:175442600-175445600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr4:175442800-175445400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:175443400-175445800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:175444000-175445000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr4:175444000-175445000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr4:175444000-175445000	Active TSS	Colonic Mucosa	Colon
13	chr4:175444000-175445000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr4:175444000-175445600	Flanking Active TSS	Liver	Liver
15	chr4:175444200-175445000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:175444200-175446800	Weak transcription	Small Intestine	intestine
17	chr4:175444400-175445000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr4:175444400-175445000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:175444400-175445600	Weak transcription	Pancreas	Pancrea
20	chr4:175444600-175445000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:175444600-175445000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:175444600-175445000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:175444600-175445000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:175444600-175445000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:175444600-175445000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:175444600-175445000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr4:175444600-175445000	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr4:175444600-175445200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:175444600-175445200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr4:175444600-175445600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr4:175444600-175445600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:175444600-175446400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:175444800-175445000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:175444800-175445000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr4:175444800-175445000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:175444800-175445000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr4:175444800-175445000	Active TSS	Placenta	Placenta
38	chr4:175444800-175445000	Active TSS	Fetal Stomach	stomach
39	chr4:175444800-175445000	Enhancers	Fetal Thymus	thymus
40	chr4:175444800-175445000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr4:175444800-175445000	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr4:175444800-175445400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:175444800-175445600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
44	chr4:175444800-175445600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr4:175444800-175445800	Enhancers	K562	blood
46	chr4:175444800-175446000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:175444800-175449200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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