Variant report

Variant	rs2075613
Chromosome Location	chr15:53081221-53081222
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:53072756..53074429-chr15:53080987..53082654,2	MCF-7	breast:
2	chr15:53072465..53075963-chr15:53080706..53083147,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169856	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12440218	1.00[EUR][1000 genomes]
rs17652361	1.00[EUR][1000 genomes]
rs17708832	1.00[EUR][1000 genomes]
rs1899753	0.85[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1899754	0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34850380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858909	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858910	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3943621	0.85[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv457142	chr15:53041887-53091896	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv569427	chr15:53041887-53091896	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	nsv1046970	chr15:53065114-53142386	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
6	nsv569428	chr15:53069874-53140045	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53075400-53082000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr15:53075600-53082000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr15:53075600-53083600	Bivalent Enhancer	Fetal Brain Male	brain
4	chr15:53075800-53082200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
5	chr15:53076400-53083800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr15:53076600-53081800	Bivalent Enhancer	Spleen	Spleen
7	chr15:53077400-53081600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:53077800-53081600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:53077800-53081800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:53078000-53081600	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr15:53079000-53081600	Active TSS	Liver	Liver
12	chr15:53079200-53081800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr15:53079800-53081400	Active TSS	Pancreas	Pancrea
14	chr15:53079800-53081800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:53080000-53081600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr15:53080000-53081600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:53080000-53081600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
18	chr15:53080000-53081600	Bivalent Enhancer	Fetal Brain Female	brain
19	chr15:53080000-53081800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
20	chr15:53080000-53081800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:53080000-53082000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr15:53080000-53082400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:53080200-53081600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr15:53080200-53081600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:53080200-53081800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:53080200-53082000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:53080400-53081600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
28	chr15:53080400-53081600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:53080400-53081600	Bivalent Enhancer	Colonic Mucosa	Colon
30	chr15:53080400-53081800	Bivalent Enhancer	Esophagus	oesophagus
31	chr15:53080400-53081800	Bivalent Enhancer	Left Ventricle	heart
32	chr15:53080400-53082000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
33	chr15:53080600-53081600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:53080600-53081600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:53080600-53081600	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr15:53080600-53081600	Bivalent Enhancer	Brain Angular Gyrus	brain
37	chr15:53080600-53081600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
38	chr15:53080600-53081800	Bivalent Enhancer	Brain Anterior Caudate	brain
39	chr15:53080600-53082000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:53080600-53082000	Bivalent Enhancer	Lung	lung
41	chr15:53080600-53083800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr15:53080800-53081400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr15:53080800-53081400	Enhancers	Gastric	stomach
44	chr15:53080800-53081600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:53080800-53081600	Bivalent Enhancer	Brain Substantia Nigra	brain
46	chr15:53080800-53081600	Bivalent Enhancer	Colon Smooth Muscle	Colon
47	chr15:53080800-53081800	Bivalent Enhancer	Ovary	ovary
48	chr15:53080800-53081800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr15:53080800-53082000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
50	chr15:53080800-53082000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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