Variant report

Variant	rs7164357
Chromosome Location	chr15:52431441-52431442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52262407..52265136-chr15:52430706..52432521,2	MCF-7	breast:
2	chr15:52371129..52371827-chr15:52430855..52431660,3	MCF-7	breast:
3	chr15:52309759..52313480-chr15:52429073..52432426,3	K562	blood:
4	chr15:52418771..52421599-chr15:52429472..52431548,2	MCF-7	breast:
5	chr15:52419540..52421651-chr15:52430986..52433153,2	K562	blood:
6	chr15:52419540..52421866-chr15:52430986..52433153,3	K562	blood:
7	chr15:52312303..52314169-chr15:52430876..52432947,2	K562	blood:

Variant related genes	Relation type
ENSG00000069956	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000069966	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10400852	1.00[EUR][1000 genomes]
rs16953085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16964735	1.00[EUR][1000 genomes]
rs16964737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16964750	1.00[EUR][1000 genomes]
rs16964770	1.00[EUR][1000 genomes]
rs2231296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28656256	1.00[EUR][1000 genomes]
rs28663157	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41494446	1.00[EUR][1000 genomes]
rs59195841	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59289747	1.00[EUR][1000 genomes]
rs60397096	1.00[EUR][1000 genomes]
rs7162885	0.82[AFR][1000 genomes]
rs7163133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165157	1.00[EUR][1000 genomes]
rs7165527	1.00[EUR][1000 genomes]
rs7165708	1.00[EUR][1000 genomes]
rs7167133	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171700	1.00[EUR][1000 genomes]
rs7172939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7178038	1.00[EUR][1000 genomes]
rs730945	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402803	1.00[EUR][1000 genomes]
rs73402824	1.00[EUR][1000 genomes]
rs73402826	1.00[EUR][1000 genomes]
rs73402833	1.00[EUR][1000 genomes]
rs73402839	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402857	0.96[AFR][1000 genomes]
rs73402859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404813	1.00[EUR][1000 genomes]
rs8023921	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8024311	1.00[EUR][1000 genomes]
rs8024767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035146	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040458	1.00[EUR][1000 genomes]
rs8041042	1.00[EUR][1000 genomes]
rs8041128	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8041233	1.00[EUR][1000 genomes]
rs8041355	1.00[EUR][1000 genomes]
rs8041504	1.00[EUR][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	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
3	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1047647	chr15:52425879-52469181	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52407600-52441600	Weak transcription	Fetal Lung	lung
2	chr15:52407800-52440400	Weak transcription	Brain Substantia Nigra	brain
3	chr15:52410200-52441600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:52410600-52441400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:52412000-52441200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:52412200-52436000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:52413600-52431800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:52416000-52432800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:52416200-52431600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:52417000-52436000	Weak transcription	Lung	lung
11	chr15:52417200-52431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:52417200-52436200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:52417400-52431800	Weak transcription	HMEC	breast
14	chr15:52417400-52432000	Weak transcription	NHDF-Ad	bronchial
15	chr15:52417600-52435400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:52417800-52431800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:52420400-52433600	Strong transcription	Ovary	ovary
18	chr15:52421800-52431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:52422600-52457600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:52423000-52436800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:52423000-52458200	Weak transcription	Dnd41	blood
22	chr15:52423600-52431800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:52424000-52441200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr15:52424600-52432400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:52425600-52432400	Enhancers	Liver	Liver
26	chr15:52425800-52432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:52425800-52435400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:52426800-52432200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr15:52427400-52432200	Enhancers	Primary hematopoietic stem cells	blood
30	chr15:52427400-52432200	Weak transcription	Brain Angular Gyrus	brain
31	chr15:52427400-52441600	Weak transcription	Esophagus	oesophagus
32	chr15:52427800-52431800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:52427800-52432800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:52428000-52432000	Weak transcription	Aorta	Aorta
35	chr15:52428000-52432400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:52428200-52431800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:52428600-52431600	Strong transcription	Hela-S3	cervix
38	chr15:52428800-52435400	Weak transcription	Osteobl	bone
39	chr15:52428800-52435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:52428800-52440600	Weak transcription	Spleen	Spleen
41	chr15:52429000-52446400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:52429000-52447200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:52429200-52431800	Weak transcription	NHLF	lung
44	chr15:52429200-52447400	Strong transcription	Primary T cells from cord blood	blood
45	chr15:52429400-52433400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:52429600-52431600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:52429600-52431800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:52429600-52438400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr15:52429600-52440600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:52429800-52431800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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