Variant report

Variant	rs5030691
Chromosome Location	chr15:99666979-99666980
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:99644993..99646793-chr15:99665159..99667351,2	MCF-7	breast:
2	chr15:99666915..99668960-chr15:99669184..99670795,2	MCF-7	breast:
3	chr15:99665709..99667621-chr15:99675687..99677257,2	K562	blood:
4	chr15:99666526..99668352-chr15:99670982..99673929,2	MCF-7	breast:
5	chr15:99658366..99661719-chr15:99663030..99668142,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261054	Chromatin interaction
ENSG00000259475	Chromatin interaction
ENSG00000182253	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10444900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10444901	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12148825	0.83[CHD][hapmap]
rs13853	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1466191	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1670238	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1670247	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1703775	1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1703781	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1703783	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs260086	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2623179	1.00[JPT][hapmap]
rs2654965	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2665082	0.83[CHD][hapmap]
rs28617660	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28690249	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4965459	0.83[CHD][hapmap]
rs62023639	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62023640	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62023641	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62023642	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62023643	0.93[ASN][1000 genomes]
rs62025375	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6422002	0.83[CHD][hapmap]
rs7162708	0.83[CHD][hapmap]
rs7170268	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7176156	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7176176	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8031137	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8038315	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8038475	0.86[CHB][hapmap]
rs8038677	0.89[ASN][1000 genomes]
rs8039637	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs8041090	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8043501	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv533375	chr15:99443534-99696221	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1050982	chr15:99450004-99725825	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv530685	chr15:99452377-99713365	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1038870	chr15:99510479-99768374	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99647600-99672400	Weak transcription	Esophagus	oesophagus
2	chr15:99652000-99669800	Weak transcription	Thymus	Thymus
3	chr15:99660600-99671600	Weak transcription	Liver	Liver
4	chr15:99663600-99667000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:99663600-99679400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:99664200-99667200	Enhancers	Fetal Muscle Leg	muscle
7	chr15:99664200-99675800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:99664400-99667200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:99664400-99667400	Enhancers	Right Atrium	heart
10	chr15:99664400-99678800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:99664400-99678800	Weak transcription	Brain Germinal Matrix	brain
12	chr15:99664600-99667200	Enhancers	Left Ventricle	heart
13	chr15:99664600-99667400	Enhancers	Psoas Muscle	Psoas
14	chr15:99664600-99668800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:99664600-99672600	Weak transcription	Small Intestine	intestine
16	chr15:99664600-99676800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:99664600-99677200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:99664600-99678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:99664600-99682200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:99664800-99667200	Weak transcription	Pancreas	Pancrea
21	chr15:99664800-99669200	Weak transcription	Fetal Lung	lung
22	chr15:99664800-99672800	Weak transcription	Fetal Thymus	thymus
23	chr15:99664800-99682000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:99664800-99688600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:99665000-99667400	Weak transcription	Fetal Intestine Large	intestine
26	chr15:99665000-99668400	Weak transcription	Fetal Intestine Small	intestine
27	chr15:99665000-99668800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr15:99665000-99668800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr15:99665000-99670000	Weak transcription	Colonic Mucosa	Colon
30	chr15:99665000-99670200	Weak transcription	HepG2	liver
31	chr15:99665000-99676000	Genic enhancers	Colon Smooth Muscle	Colon
32	chr15:99665000-99676600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:99665000-99676800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:99665000-99683800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr15:99665000-99714200	Weak transcription	NHEK	skin
36	chr15:99665200-99667000	Enhancers	Fetal Heart	heart
37	chr15:99665200-99667000	Enhancers	Right Ventricle	heart
38	chr15:99665200-99667200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:99665200-99670000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:99665200-99676000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:99665200-99677400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr15:99665200-99677400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:99665200-99677600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:99665200-99679400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:99665200-99687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:99665400-99667000	Enhancers	Rectal Smooth Muscle	rectum
47	chr15:99665400-99667200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:99665400-99667200	Weak transcription	Placenta	Placenta
49	chr15:99665400-99668600	Weak transcription	HMEC	breast
50	chr15:99665400-99669600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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