Variant report

Variant	rs1647378
Chromosome Location	chr15:57108922-57108923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57104304..57106504-chr15:57107525..57109423,2	MCF-7	breast:
2	chr15:57107595..57111663-chr15:57111716..57115001,4	K562	blood:
3	chr15:57106197..57110196-chr15:57111997..57118015,6	K562	blood:
4	chr15:57102473..57104641-chr15:57108016..57110704,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10518878	0.88[ASN][1000 genomes]
rs1115019	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1441235	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1612205	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1629339	0.82[AMR][1000 genomes]
rs1647385	0.82[AMR][1000 genomes]
rs1647392	0.97[ASN][1000 genomes]
rs1652744	0.84[AMR][1000 genomes]
rs1652746	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1652747	0.82[AMR][1000 genomes]
rs1652748	0.82[AMR][1000 genomes]
rs1657922	0.82[AMR][1000 genomes]
rs1657927	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1657930	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1657934	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1657935	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1657936	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1657937	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1657938	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1657939	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1660948	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1660950	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1660951	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1660963	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1660964	0.85[AMR][1000 genomes]
rs16977079	0.81[ASN][1000 genomes]
rs2161933	0.88[ASN][1000 genomes]
rs4313751	0.88[ASN][1000 genomes]
rs4774893	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4774895	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56965085	0.87[ASN][1000 genomes]
rs6493893	0.97[ASN][1000 genomes]
rs67114210	0.84[ASN][1000 genomes]
rs68083905	0.92[ASN][1000 genomes]
rs7163302	0.90[ASN][1000 genomes]
rs7166876	0.85[ASN][1000 genomes]
rs7178196	0.80[ASN][1000 genomes]
rs7182691	0.84[ASN][1000 genomes]
rs7359253	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8026149	0.96[ASN][1000 genomes]
rs8042606	0.88[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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
6	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57100200-57114000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:57100400-57111600	Weak transcription	Thymus	Thymus
3	chr15:57102200-57109200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:57102600-57109800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:57104600-57109200	Weak transcription	Aorta	Aorta
6	chr15:57104800-57110600	Enhancers	HUVEC	blood vessel
7	chr15:57105000-57109000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:57105000-57114000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:57105000-57114200	Weak transcription	Ovary	ovary
10	chr15:57105200-57109000	Weak transcription	Fetal Lung	lung
11	chr15:57105400-57109800	Weak transcription	Fetal Heart	heart
12	chr15:57106400-57109000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:57106600-57109000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:57106600-57109000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:57106600-57109000	Weak transcription	Brain Angular Gyrus	brain
16	chr15:57106600-57109000	Weak transcription	NHDF-Ad	bronchial
17	chr15:57106600-57112400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:57106600-57113400	Weak transcription	Psoas Muscle	Psoas
19	chr15:57106600-57113800	Weak transcription	Brain Substantia Nigra	brain
20	chr15:57107000-57109200	Weak transcription	Fetal Stomach	stomach
21	chr15:57107200-57109000	Weak transcription	HSMM	muscle
22	chr15:57107400-57109200	Weak transcription	Fetal Thymus	thymus
23	chr15:57107400-57109600	Weak transcription	Small Intestine	intestine
24	chr15:57108000-57110200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:57108200-57109400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr15:57108200-57110000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:57108200-57110000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr15:57108200-57110400	Enhancers	Brain Anterior Caudate	brain
29	chr15:57108200-57110800	Enhancers	Brain Germinal Matrix	brain
30	chr15:57108400-57109600	Enhancers	NH-A	brain
31	chr15:57108400-57110000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:57108400-57110000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:57108400-57110000	Enhancers	Adipose Nuclei	Adipose
34	chr15:57108400-57110000	Enhancers	Right Ventricle	heart
35	chr15:57108400-57110600	Enhancers	Osteobl	bone
36	chr15:57108600-57109000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:57108600-57109000	Weak transcription	Left Ventricle	heart
38	chr15:57108600-57109000	Weak transcription	Right Atrium	heart
39	chr15:57108800-57110400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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