Variant report

Variant	rs4297288
Chromosome Location	chr1:159913812-159913813
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:159891058..159895462-chr1:159912428..159914619,4	K562	blood:
2	chr1:159912050..159914185-chr1:159918859..159921422,2	MCF-7	breast:
3	chr1:159903338..159907350-chr1:159911938..159914320,4	K562	blood:
4	chr1:159767985..159771040-chr1:159911946..159915260,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085552	Chromatin interaction
ENSG00000181036	Chromatin interaction
ENSG00000158710	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2789415	1.00[CEU][hapmap]
rs2789416	1.00[CEU][hapmap]
rs2789417	1.00[CEU][hapmap]
rs2789418	0.82[CEU][hapmap]
rs2820579	1.00[CEU][hapmap]
rs2820584	0.82[CEU][hapmap]
rs2840581	0.82[CEU][hapmap]
rs2840583	1.00[CEU][hapmap]
rs4402127	0.82[CEU][hapmap]

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	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv524006	chr1:159886422-159923111	Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159907000-159915200	Weak transcription	Gastric	stomach
2	chr1:159908400-159914600	Enhancers	Stomach Mucosa	stomach
3	chr1:159908400-159915200	Weak transcription	Spleen	Spleen
4	chr1:159908600-159914000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:159908600-159914200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:159909400-159914000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:159909800-159914400	Weak transcription	Small Intestine	intestine
8	chr1:159910200-159914200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:159910200-159914200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
10	chr1:159910600-159914400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:159910600-159914400	Enhancers	Fetal Brain Male	brain
12	chr1:159911000-159914400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:159911200-159914400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:159911400-159914000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:159911400-159914800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:159911600-159914200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:159911600-159914400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:159911800-159914000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:159911800-159914400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:159911800-159915200	Flanking Active TSS	Fetal Brain Female	brain
21	chr1:159912000-159914000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:159912800-159914200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:159913200-159914000	Enhancers	Liver	Liver
24	chr1:159913200-159914000	Weak transcription	Fetal Stomach	stomach
25	chr1:159913200-159914800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:159913400-159914000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:159913400-159914200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:159913400-159914400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:159913400-159914400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:159913400-159914400	Weak transcription	Esophagus	oesophagus
31	chr1:159913400-159914800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:159913600-159914200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:159913600-159914200	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr1:159913600-159914200	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr1:159913600-159915000	Enhancers	Fetal Lung	lung
36	chr1:159913600-159915000	Flanking Active TSS	NHEK	skin
37	chr1:159913600-159915400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:159913800-159914200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:159913800-159915000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr1:159913800-159915000	Enhancers	Fetal Heart	heart
41	chr1:159913800-159915600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr1:159913800-159916200	Flanking Active TSS	HMEC	breast

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