Variant report

Variant	rs8038002
Chromosome Location	chr15:99707297-99707298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:99705548..99708454-chr15:99713051..99715766,2	MCF-7	breast:
2	chr15:99701947..99703493-chr15:99706799..99708461,2	MCF-7	breast:
3	chr15:99697354..99699660-chr15:99705124..99708746,3	K562	blood:

Variant related genes	Relation type
ENSG00000103852	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12324187	0.83[CHB][hapmap]
rs12324825	0.83[CEU][hapmap];0.85[AMR][1000 genomes]
rs12591477	0.83[CEU][hapmap];0.84[AMR][1000 genomes]
rs12594336	0.85[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12595385	0.96[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1377267	0.89[CEU][hapmap]
rs1530920	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602034	0.81[JPT][hapmap]
rs28517698	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28612155	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28819101	0.84[AMR][1000 genomes]
rs3803472	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4500700	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7170336	0.83[AMR][1000 genomes]
rs8023490	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8026991	0.92[CEU][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8032154	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8038392	0.84[CEU][hapmap]
rs8038732	0.87[ASN][1000 genomes]
rs9672800	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99665000-99714200	Weak transcription	NHEK	skin
2	chr15:99673200-99789400	Weak transcription	Small Intestine	intestine
3	chr15:99678200-99708800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:99684800-99709200	Weak transcription	Colonic Mucosa	Colon
5	chr15:99684800-99721600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:99685000-99720200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:99689600-99707600	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:99689600-99709600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:99689800-99709400	Weak transcription	Brain Angular Gyrus	brain
10	chr15:99690000-99708200	Weak transcription	Right Ventricle	heart
11	chr15:99690000-99709400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:99690400-99707400	Weak transcription	Gastric	stomach
13	chr15:99690400-99709800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:99690600-99709000	Weak transcription	Fetal Heart	heart
15	chr15:99692000-99717000	Weak transcription	HSMM	muscle
16	chr15:99694800-99711000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:99694800-99721200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:99694800-99732600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:99694800-99732600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:99695200-99721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:99695200-99721800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:99695200-99732400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:99696600-99707400	Weak transcription	HepG2	liver
24	chr15:99696600-99709200	Weak transcription	NH-A	brain
25	chr15:99696600-99710800	Weak transcription	HMEC	breast
26	chr15:99697000-99716800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:99697000-99756400	Weak transcription	Stomach Mucosa	stomach
28	chr15:99697200-99712400	Weak transcription	Hela-S3	cervix
29	chr15:99698600-99709200	Weak transcription	NHLF	lung
30	chr15:99699000-99708800	Strong transcription	Liver	Liver
31	chr15:99699200-99708400	Weak transcription	Lung	lung
32	chr15:99699400-99731400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:99699800-99709600	Weak transcription	A549	lung
34	chr15:99700000-99707400	Weak transcription	Brain Substantia Nigra	brain
35	chr15:99700200-99708000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:99700200-99709200	Weak transcription	Aorta	Aorta
37	chr15:99700200-99710800	Weak transcription	Dnd41	blood
38	chr15:99700200-99731200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr15:99700400-99730600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:99701400-99707400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:99701800-99709200	Weak transcription	Left Ventricle	heart
42	chr15:99702000-99708200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:99702200-99707800	Weak transcription	Brain Anterior Caudate	brain
44	chr15:99702200-99709600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:99702200-99711000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr15:99702200-99715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr15:99703400-99728200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr15:99703800-99707400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:99703800-99707600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr15:99703800-99708000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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