Variant report

Variant	rs978704
Chromosome Location	chr15:99911805-99911806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:99911513..99912231-chr15:100295759..100296289,2	MCF-7	breast:
2	chr15:99909577..99912382-chr15:99924265..99925910,2	MCF-7	breast:
3	chr15:99826430..99827156-chr15:99911339..99912207,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168904	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11858067	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12050640	0.81[JPT][hapmap]
rs12050653	0.81[JPT][hapmap]
rs12050904	0.82[JPT][hapmap]
rs1372755	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1472987	0.81[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap]
rs2175226	0.81[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap]
rs28807370	0.90[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs3817147	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3920191	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4471660	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56679647	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6598240	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7162764	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7180005	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7183514	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
13	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv1052683	chr15:99869631-99924685	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv542521	chr15:99869631-99924685	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99867200-99926600	Weak transcription	NHEK	skin
2	chr15:99872000-99912600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:99882600-99925200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:99885400-99916000	Weak transcription	Fetal Heart	heart
5	chr15:99886600-99931400	Weak transcription	Esophagus	oesophagus
6	chr15:99893600-99925400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:99894000-99925200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:99902000-99925600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:99903600-99924800	Weak transcription	Left Ventricle	heart
10	chr15:99903600-99925200	Weak transcription	Lung	lung
11	chr15:99903600-99926600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:99905000-99928200	Weak transcription	Pancreas	Pancrea
13	chr15:99906400-99916200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:99907000-99912000	Weak transcription	Aorta	Aorta
15	chr15:99907000-99912000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:99907000-99925400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:99907200-99926600	Weak transcription	Fetal Kidney	kidney
18	chr15:99907400-99924800	Weak transcription	A549	lung
19	chr15:99907400-99926200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:99907400-99928200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:99907800-99925400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:99908200-99924800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:99908200-99925400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:99908800-99924000	Weak transcription	Fetal Stomach	stomach
25	chr15:99909000-99914400	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:99909200-99912800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:99909200-99915000	Weak transcription	Thymus	Thymus
28	chr15:99909600-99914400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:99909600-99925200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:99909800-99914600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:99909800-99914600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:99909800-99915800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:99909800-99924800	Weak transcription	Fetal Intestine Small	intestine
34	chr15:99909800-99926200	Weak transcription	Fetal Muscle Leg	muscle
35	chr15:99910000-99914400	Weak transcription	Psoas Muscle	Psoas
36	chr15:99910200-99914800	Weak transcription	Fetal Intestine Large	intestine
37	chr15:99910400-99912000	Weak transcription	Dnd41	blood
38	chr15:99910400-99923200	Weak transcription	Primary B cells from cord blood	blood
39	chr15:99910400-99934400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:99910600-99913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:99911000-99913000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:99911200-99912800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:99911200-99913400	Enhancers	Primary hematopoietic stem cells	blood
44	chr15:99911200-99914600	Strong transcription	Liver	Liver
45	chr15:99911400-99912200	Enhancers	Primary B cells from peripheral blood	blood
46	chr15:99911400-99912200	Enhancers	Adipose Nuclei	Adipose
47	chr15:99911400-99912200	Enhancers	Brain Cingulate Gyrus	brain
48	chr15:99911400-99912200	Enhancers	Fetal Lung	lung
49	chr15:99911400-99912200	Enhancers	Osteobl	bone
50	chr15:99911400-99912600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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