Variant report

Variant	rs1008052
Chromosome Location	chr4:174094531-174094532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:173960802..173963006-chr4:174092691..174094595,2	MCF-7	breast:
2	chr4:174094346..174096240-chr4:174110007..174112423,2	K562	blood:
3	chr4:174088223..174092682-chr4:174092972..174099857,11	MCF-7	breast:
4	chr4:174091292..174097320-chr4:174098048..174101316,8	K562	blood:

Variant related genes	Relation type
ENSG00000109586	Chromatin interaction
ENSG00000245213	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10001613	0.91[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs1006002	0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[ASN][1000 genomes]
rs1006003	0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[ASN][1000 genomes]
rs10213525	0.85[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1054496	0.85[CHB][hapmap]
rs1054497	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs11731263	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1383628	0.85[JPT][hapmap]
rs17059221	0.80[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2332655	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28377337	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28451250	0.90[ASN][1000 genomes]
rs28477861	0.83[ASN][1000 genomes]
rs28663544	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3733477	0.80[ASN][1000 genomes]
rs4323082	0.80[JPT][hapmap]
rs4377567	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs4535319	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4695826	0.80[ASN][1000 genomes]
rs60815517	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6817013	0.90[ASN][1000 genomes]
rs6843769	0.85[CHB][hapmap]
rs72711045	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9683937	0.81[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs9685946	0.81[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.82[ASN][1000 genomes]
rs9999740	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793960	chr4:174090004-174102397	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1801469	chr4:174090004-174102397	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1823585	chr4:174090209-174107537	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1008052	MORF4	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174091600-174094600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:174091600-174095000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:174091600-174113600	Weak transcription	Esophagus	oesophagus
4	chr4:174091800-174094600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:174091800-174104000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:174092000-174095000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:174092000-174096800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:174092000-174098600	Weak transcription	Brain Angular Gyrus	brain
9	chr4:174092200-174096200	Enhancers	Duodenum Mucosa	Duodenum
10	chr4:174092200-174096400	Enhancers	Stomach Mucosa	stomach
11	chr4:174092200-174098800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:174092200-174099000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:174092200-174099000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:174092400-174100400	Weak transcription	Hela-S3	cervix
15	chr4:174092600-174094800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:174092600-174095000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:174092600-174095000	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:174092600-174095000	Weak transcription	Fetal Kidney	kidney
19	chr4:174092600-174095400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:174092600-174096800	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:174092600-174097800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:174092600-174099200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:174092600-174099200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:174092600-174102400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:174092800-174094800	Weak transcription	HUVEC	blood vessel
26	chr4:174092800-174095000	Weak transcription	Primary T cells from cord blood	blood
27	chr4:174092800-174095000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:174092800-174095000	Weak transcription	Fetal Intestine Small	intestine
29	chr4:174092800-174095000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:174092800-174095000	Enhancers	K562	blood
31	chr4:174092800-174095200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:174092800-174095400	Weak transcription	Fetal Lung	lung
33	chr4:174092800-174095600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:174092800-174096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:174092800-174096000	Enhancers	A549	lung
36	chr4:174092800-174096200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:174092800-174098600	Enhancers	Fetal Thymus	thymus
38	chr4:174092800-174099200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:174092800-174099400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:174092800-174100400	Weak transcription	NHEK	skin
41	chr4:174092800-174101000	Weak transcription	HSMM	muscle
42	chr4:174092800-174103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:174092800-174103600	Weak transcription	Aorta	Aorta
44	chr4:174092800-174106000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:174092800-174109000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:174093000-174094600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:174093000-174096800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr4:174093000-174102200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr4:174093400-174097600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr4:174093600-174094600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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