Variant report

Variant	rs2083730
Chromosome Location	chr15:75357706-75357707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75354485..75356101-chr15:75356641..75358451,2	K562	blood:
2	chr15:75339319..75341137-chr15:75356875..75359232,2	K562	blood:
3	chr15:75352366..75354623-chr15:75356878..75359032,2	K562	blood:
4	chr15:75351256..75353866-chr15:75357532..75359933,2	K562	blood:
5	chr15:75335307..75337895-chr15:75354566..75358468,3	K562	blood:
6	chr15:75302586..75305269-chr15:75356517..75359179,2	MCF-7	breast:
7	chr15:75333748..75335630-chr15:75354954..75357925,2	MCF-7	breast:
8	chr15:75335307..75337637-chr15:75355852..75358468,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198794	Chromatin interaction
ENSG00000138621	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12050820	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12148488	0.82[LWK][hapmap]
rs12593566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12899062	0.82[AFR][1000 genomes]
rs12900654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12909515	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12912959	0.84[AFR][1000 genomes]
rs12917120	0.83[YRI][hapmap]
rs13056	0.82[YRI][hapmap]
rs1561894	0.86[CHB][hapmap]
rs17422130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1867148	0.83[AFR][1000 genomes]
rs1867149	0.81[AFR][1000 genomes]
rs1867151	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2120019	0.83[YRI][hapmap]
rs2304899	0.88[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];0.86[MKK][hapmap];0.89[YRI][hapmap]
rs3812944	0.88[ASW][hapmap];0.95[LWK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs4627301	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4886651	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886652	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59307715	0.85[AFR][1000 genomes]
rs6495139	0.85[AFR][1000 genomes]
rs6495141	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6495143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6495144	0.83[AFR][1000 genomes]
rs6495149	0.87[AFR][1000 genomes]
rs6495152	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7163636	0.89[LWK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs7167261	0.83[AFR][1000 genomes]
rs7172565	1.00[CHB][hapmap]
rs8028632	0.83[YRI][hapmap]
rs8030089	0.82[YRI][hapmap]
rs8039755	0.89[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75340000-75360600	Weak transcription	Gastric	stomach
2	chr15:75340200-75359400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr15:75341200-75357800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:75342600-75364800	Weak transcription	Primary T cells from cord blood	blood
5	chr15:75342800-75361600	Weak transcription	Brain Hippocampus Middle	brain
6	chr15:75346400-75361600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:75347000-75364000	Weak transcription	Brain Substantia Nigra	brain
8	chr15:75351000-75358200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:75351200-75357800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:75351200-75358000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr15:75351200-75358000	Weak transcription	Right Ventricle	heart
12	chr15:75351200-75358000	Weak transcription	NHEK	skin
13	chr15:75351200-75358200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:75352400-75358000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:75353600-75358400	Enhancers	Right Atrium	heart
16	chr15:75354000-75357800	Weak transcription	Colonic Mucosa	Colon
17	chr15:75354200-75359000	Weak transcription	NHDF-Ad	bronchial
18	chr15:75355000-75358200	Enhancers	Fetal Heart	heart
19	chr15:75355200-75358000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:75355600-75358400	Enhancers	Fetal Muscle Leg	muscle
21	chr15:75356200-75358200	Weak transcription	NHLF	lung
22	chr15:75356400-75358400	Enhancers	Fetal Thymus	thymus
23	chr15:75356600-75357800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:75356600-75357800	Weak transcription	Lung	lung
25	chr15:75356600-75358800	Enhancers	GM12878-XiMat	blood
26	chr15:75356600-75359000	Enhancers	Fetal Intestine Small	intestine
27	chr15:75356600-75360000	Enhancers	HSMMtube	muscle
28	chr15:75356600-75360200	Enhancers	Osteobl	bone
29	chr15:75356800-75358000	Weak transcription	Pancreas	Pancrea
30	chr15:75356800-75358600	Enhancers	Fetal Intestine Large	intestine
31	chr15:75356800-75358800	Enhancers	Duodenum Mucosa	Duodenum
32	chr15:75356800-75360200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:75356800-75361000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:75356800-75366600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr15:75357000-75357800	Enhancers	Fetal Stomach	stomach
36	chr15:75357000-75358400	Enhancers	Adipose Nuclei	Adipose
37	chr15:75357000-75359000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr15:75357000-75359200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:75357000-75359400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:75357000-75360600	Weak transcription	Spleen	Spleen
41	chr15:75357000-75363200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:75357000-75365400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:75357200-75358200	Enhancers	Small Intestine	intestine
44	chr15:75357200-75359800	Enhancers	Ovary	ovary
45	chr15:75357200-75360200	Enhancers	HMEC	breast
46	chr15:75357200-75360200	Enhancers	HSMM	muscle
47	chr15:75357400-75357800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr15:75357400-75357800	Enhancers	Stomach Mucosa	stomach
49	chr15:75357400-75358000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:75357400-75358200	Enhancers	Placenta	Placenta

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