Variant report

Variant	rs34718403
Chromosome Location	chr4:174101232-174101233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:174091292..174097320-chr4:174098048..174101316,8	K562	blood:
2	chr4:174088382..174092255-chr4:174100174..174103492,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245213	Chromatin interaction
ENSG00000109586	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10005325	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10520255	0.94[EUR][1000 genomes]
rs10520256	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11942280	0.95[EUR][1000 genomes]
rs13102038	0.95[EUR][1000 genomes]
rs13116270	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13117810	0.90[EUR][1000 genomes]
rs13120215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13123359	0.95[EUR][1000 genomes]
rs13123399	0.81[AMR][1000 genomes]
rs13141844	0.88[EUR][1000 genomes]
rs13142524	0.95[EUR][1000 genomes]
rs13150231	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13151627	0.95[EUR][1000 genomes]
rs17059205	0.91[EUR][1000 genomes]
rs17059207	0.96[EUR][1000 genomes]
rs17059217	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17059234	0.81[AMR][1000 genomes]
rs1991726	0.81[AMR][1000 genomes]
rs2332657	0.91[EUR][1000 genomes]
rs2332658	0.91[EUR][1000 genomes]
rs28361970	0.96[EUR][1000 genomes]
rs28413646	0.91[EUR][1000 genomes]
rs28694391	0.85[EUR][1000 genomes]
rs34285915	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35576170	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35644315	0.81[EUR][1000 genomes]
rs35679682	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35730812	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35796775	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36050097	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4608791	0.85[EUR][1000 genomes]
rs4695827	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4696050	0.90[EUR][1000 genomes]
rs4696054	0.80[EUR][1000 genomes]
rs62341096	0.87[EUR][1000 genomes]
rs62342296	0.81[AMR][1000 genomes]
rs6553686	0.86[EUR][1000 genomes]
rs6822924	0.95[EUR][1000 genomes]
rs6858043	0.86[EUR][1000 genomes]
rs722826	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs722827	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7661977	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7667345	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7668473	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7673747	0.96[EUR][1000 genomes]
rs7681286	0.81[AMR][1000 genomes]
rs9685410	0.85[EUR][1000 genomes]
rs9991863	0.91[EUR][1000 genomes]
rs9995556	0.90[EUR][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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174091600-174113600	Weak transcription	Esophagus	oesophagus
2	chr4:174091800-174104000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:174092600-174102400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:174092800-174103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:174092800-174103600	Weak transcription	Aorta	Aorta
6	chr4:174092800-174106000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:174092800-174109000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:174093000-174102200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:174093600-174102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:174093600-174109800	Weak transcription	Gastric	stomach
11	chr4:174093800-174105000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:174094200-174102800	Weak transcription	Brain Anterior Caudate	brain
13	chr4:174095000-174109400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:174095400-174102800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:174095800-174102200	Weak transcription	Primary T cells from cord blood	blood
16	chr4:174096200-174102000	Weak transcription	Fetal Intestine Small	intestine
17	chr4:174096200-174103200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:174096200-174111200	Weak transcription	Small Intestine	intestine
19	chr4:174096400-174101800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:174096800-174102000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:174096800-174103800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:174098000-174104200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr4:174098000-174106400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:174098600-174106200	Weak transcription	Fetal Thymus	thymus
25	chr4:174098800-174101800	Weak transcription	Stomach Mucosa	stomach
26	chr4:174098800-174103800	Weak transcription	Thymus	Thymus
27	chr4:174098800-174104600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:174098800-174108400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:174099000-174101800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:174099000-174102000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:174099000-174106200	Weak transcription	Dnd41	blood
32	chr4:174099000-174109400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:174099200-174111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:174099400-174101400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:174099600-174101800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:174099600-174102800	Enhancers	A549	lung
37	chr4:174099800-174106000	Weak transcription	K562	blood
38	chr4:174100000-174102800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:174100000-174112200	Weak transcription	Brain Substantia Nigra	brain
40	chr4:174100200-174103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:174100400-174101600	Enhancers	NH-A	brain
42	chr4:174100400-174103800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:174100400-174104200	Enhancers	Hela-S3	cervix
44	chr4:174100600-174101400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:174100600-174101800	Enhancers	Osteobl	bone
46	chr4:174100600-174103200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr4:174100800-174101400	Enhancers	NHDF-Ad	bronchial
48	chr4:174100800-174102000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:174100800-174102400	Weak transcription	Fetal Intestine Large	intestine
50	chr4:174100800-174102800	Weak transcription	Colon Smooth Muscle	Colon

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