Variant report

Variant	rs375026944
Chromosome Location	chr4:55094868-55094869
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	MXI1	chr4:55093006-55098852	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr4:55092563-55098831	IMR90	lung:	n/a	n/a
3	CTCF	chr4:55093509-55095583	SK-N-SH	brain:	n/a	n/a
4	CHD1	chr4:55092095-55098811	IMR90	lung:	n/a	chr4:55095204-55095214 chr4:55097509-55097519 chr4:55092863-55092873
5	MAZ	chr4:55092981-55097889	IMR90	lung:	n/a	chr4:55096617-55096627 chr4:55095167-55095177 chr4:55096597-55096607 chr4:55094630-55094639 chr4:55096994-55097003
6	RAD21	chr4:55092296-55096262	IMR90	lung:	n/a	n/a
7	EP300	chr4:55092934-55096249	SK-N-SH	brain:	n/a	chr4:55095311-55095324 chr4:55095380-55095390 chr4:55095025-55095039 chr4:55095591-55095605
8	CEBPB	chr4:55094274-55095994	IMR90	lung:	n/a	chr4:55095112-55095120 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095255-55095268
9	CTCF	chr4:55094780-55094930	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr4:55094740-55094890	NHLF	lung:	n/a	n/a
11	SMC3	chr4:55092553-55098497	SK-N-SH	brain:	n/a	chr4:55094171-55094179 chr4:55098142-55098152
12	RAD21	chr4:55093154-55096143	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:54774514..54775034-chr4:55093982..55094896,2	K562	blood:
2	chr4:55094459..55096231-chr4:55096303..55097882,2	K562	blood:
3	chr4:54357356..54357868-chr4:55094218..55094869,2	K562	blood:
4	chr4:54774768..54775400-chr4:55094512..55095178,2	MCF-7	breast:

Variant related genes	Relation type
PDGFRA	TF binding region
ENSG00000134853	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002905	chr4:55093677-55115698	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55091200-55099000	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr4:55091400-55095000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
3	chr4:55091400-55095200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:55091400-55096600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr4:55091600-55095000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:55091800-55095400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:55092000-55096800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr4:55092000-55100800	Active TSS	Aorta	Aorta
9	chr4:55092200-55096000	Flanking Active TSS	NH-A	brain
10	chr4:55092400-55097800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:55092400-55100600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:55093000-55095200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:55093200-55095000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr4:55093200-55100800	Active TSS	NHDF-Ad	bronchial
15	chr4:55093200-55102000	Active TSS	Ovary	ovary
16	chr4:55093800-55096400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:55093800-55097000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr4:55093800-55097800	Bivalent/Poised TSS	Fetal Lung	lung
19	chr4:55094200-55099000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr4:55094200-55100800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:55094400-55095000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
22	chr4:55094400-55095000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr4:55094400-55095000	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr4:55094400-55095000	Bivalent Enhancer	HepG2	liver
25	chr4:55094400-55095000	Flanking Active TSS	Osteobl	bone
26	chr4:55094400-55095200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:55094400-55095200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:55094400-55095400	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr4:55094400-55096000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:55094400-55097000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:55094400-55098000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
32	chr4:55094400-55098600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:55094600-55095000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:55094600-55095000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr4:55094600-55095000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr4:55094600-55095000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr4:55094600-55095000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr4:55094600-55095000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
39	chr4:55094600-55095000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
40	chr4:55094600-55095400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:55094600-55095600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:55094600-55095800	Weak transcription	Esophagus	oesophagus
43	chr4:55094600-55096000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
44	chr4:55094600-55096000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:55094600-55096000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:55094600-55096000	Weak transcription	Lung	lung
47	chr4:55094600-55096200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr4:55094600-55096200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
49	chr4:55094600-55096200	Bivalent/Poised TSS	Placenta	Placenta
50	chr4:55094600-55096200	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links