Variant report

Variant	rs55970302
Chromosome Location	chr15:50429420-50429421
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50428036..50430534-chr15:50437642..50439457,2	MCF-7	breast:
2	chr15:50420970..50423759-chr15:50428011..50430538,2	MCF-7	breast:
3	chr15:50425943..50428562-chr15:50428956..50430506,3	K562	blood:
4	chr15:50429285..50430133-chr19:45927098..45927779,2	Hela-S3	cervix:
5	chr15:50168979..50170922-chr15:50428589..50430451,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000012061	Chromatin interaction

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

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

rs_ID	r²[population]
rs11070756	1.00[ASN][1000 genomes]
rs11070757	1.00[ASN][1000 genomes]
rs11854761	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11854881	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11858160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440837	0.96[ASN][1000 genomes]
rs12906623	0.96[ASN][1000 genomes]
rs12912519	0.96[ASN][1000 genomes]
rs17415862	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17499726	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414037	0.80[AMR][1000 genomes]
rs34490804	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3803371	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55740521	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55852503	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55853214	0.88[ASN][1000 genomes]
rs56083537	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56307748	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57335604	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58277329	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59690694	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60383354	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60387657	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66472276	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72737004	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737014	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737020	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737025	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737026	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737028	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737030	1.00[ASN][1000 genomes]
rs72737033	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737034	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737035	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737040	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737046	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737047	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737057	0.83[AMR][1000 genomes]
rs73395114	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8033014	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036098	0.96[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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv904208	chr15:50428495-50457858	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50425800-50430800	Enhancers	NHDF-Ad	bronchial
2	chr15:50426000-50430600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:50426000-50430800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:50426400-50430400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:50426400-50430400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr15:50426400-50430600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:50426400-50430600	Enhancers	NHLF	lung
8	chr15:50426400-50430800	Enhancers	Osteobl	bone
9	chr15:50427200-50429800	Weak transcription	HUVEC	blood vessel
10	chr15:50427800-50429800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:50427800-50429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:50427800-50429800	Weak transcription	HSMM	muscle
13	chr15:50427800-50429800	Weak transcription	NH-A	brain
14	chr15:50427800-50436400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:50428400-50430400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:50428600-50429600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:50428600-50429800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:50428800-50429800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:50428800-50430200	Flanking Active TSS	A549	lung
20	chr15:50428800-50430200	Flanking Active TSS	Hela-S3	cervix
21	chr15:50428800-50430600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:50428800-50432400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:50429000-50429800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:50429000-50429800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:50429000-50430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:50429000-50434200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:50429000-50437000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr15:50429000-50437600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr15:50429200-50429600	Weak transcription	Fetal Stomach	stomach
30	chr15:50429200-50430400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr15:50429200-50430400	Enhancers	K562	blood
32	chr15:50429200-50430600	Enhancers	NHEK	skin
33	chr15:50429200-50430800	Enhancers	HMEC	breast
34	chr15:50429400-50429600	Enhancers	Colon Smooth Muscle	Colon
35	chr15:50429400-50429800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:50429400-50430000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:50429400-50430400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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