Variant report

Variant	rs11724514
Chromosome Location	chr4:74100153-74100154
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74099654..74102966-chr4:74122579..74124991,5	MCF-7	breast:
2	chr4:74099463..74102347-chr4:74103511..74105287,2	MCF-7	breast:
3	chr4:74099672..74104982-chr4:74123482..74126181,5	MCF-7	breast:
4	chr4:74099811..74102120-chr4:74103829..74105781,2	MCF-7	breast:
5	chr4:74094205..74096174-chr4:74099236..74100932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132466	Chromatin interaction
ENSG00000250220	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10034689	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap]
rs10035001	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap]
rs10050235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap]
rs10805059	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11736349	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935070	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13101277	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs1534450	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs34740973	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4072	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4694155	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs4694156	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5020219	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs58721459	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60190643	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850870	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs7688637	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9291182	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv879486	chr4:74031423-74114322	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv1793600	chr4:74046221-74116012	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv879489	chr4:74050725-74115116	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	esv3410570	chr4:74055180-74122498	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
3	chr4:74078200-74123000	Weak transcription	Lung	lung
4	chr4:74087600-74116400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:74087800-74123400	Weak transcription	Gastric	stomach
6	chr4:74088800-74100200	Weak transcription	Left Ventricle	heart
7	chr4:74088800-74111000	Weak transcription	Colonic Mucosa	Colon
8	chr4:74089000-74100200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:74089000-74121400	Weak transcription	Hela-S3	cervix
10	chr4:74089200-74100200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:74089200-74100200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:74089200-74100200	Weak transcription	Fetal Brain Male	brain
13	chr4:74089200-74100200	Weak transcription	Ovary	ovary
14	chr4:74089200-74100200	Weak transcription	HSMMtube	muscle
15	chr4:74089200-74100200	Weak transcription	NH-A	brain
16	chr4:74089200-74100400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:74089200-74100400	Weak transcription	HMEC	breast
18	chr4:74089200-74108800	Weak transcription	Right Ventricle	heart
19	chr4:74089200-74109400	Weak transcription	Fetal Brain Female	brain
20	chr4:74089200-74111000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:74089200-74111600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:74089200-74117600	Weak transcription	NHDF-Ad	bronchial
23	chr4:74089200-74122000	Weak transcription	Aorta	Aorta
24	chr4:74089400-74100200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:74089400-74100600	Weak transcription	Fetal Kidney	kidney
26	chr4:74089400-74121800	Weak transcription	NHLF	lung
27	chr4:74089600-74100200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:74089600-74111800	Weak transcription	Fetal Heart	heart
29	chr4:74089800-74112000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:74090000-74100200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:74090000-74100200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:74090000-74100200	Weak transcription	Spleen	Spleen
33	chr4:74090000-74100200	Weak transcription	NHEK	skin
34	chr4:74090200-74100800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:74090800-74100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:74091000-74102000	Weak transcription	Brain Substantia Nigra	brain
37	chr4:74091000-74111000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:74091200-74103000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:74091200-74107800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:74091200-74110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:74091400-74100200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:74091400-74100200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:74091400-74100200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:74091400-74100400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr4:74091400-74104000	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:74092600-74101600	Weak transcription	Fetal Intestine Small	intestine
47	chr4:74093000-74100200	Weak transcription	Fetal Stomach	stomach
48	chr4:74093200-74116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:74095400-74104600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:74095600-74101200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links