Variant report

Variant	rs73383129
Chromosome Location	chr15:40698976-40698977
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40696988-40699140	HepG2	liver:	n/a	n/a
2	WRNIP1	chr15:40698830-40699033	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40696493..40699677-chr15:40705258..40709114,5	MCF-7	breast:
2	chr15:40632962..40635385-chr15:40697134..40699617,2	MCF-7	breast:
3	chr15:40698036..40700084-chr15:40700377..40704412,6	MCF-7	breast:
4	chr15:40675071..40677376-chr15:40697128..40699914,2	K562	blood:
5	chr15:40674190..40678981-chr15:40695777..40699659,7	MCF-7	breast:
6	chr15:40697487..40700502-chr15:40704344..40708003,4	K562	blood:

No data

Variant related genes	Relation type
IVD	TF binding region
ENSG00000128928	Chromatin interaction
ENSG00000128944	Chromatin interaction
ENSG00000188549	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11070255	1.00[EUR][1000 genomes]
rs12385956	1.00[EUR][1000 genomes]
rs13380241	1.00[EUR][1000 genomes]
rs14363	1.00[EUR][1000 genomes]
rs1494534	1.00[EUR][1000 genomes]
rs1801528	1.00[EUR][1000 genomes]
rs1869906	1.00[EUR][1000 genomes]
rs28565228	1.00[EUR][1000 genomes]
rs28637697	1.00[EUR][1000 genomes]
rs28657938	1.00[EUR][1000 genomes]
rs28750294	1.00[EUR][1000 genomes]
rs34268290	1.00[AMR][1000 genomes]
rs35611758	1.00[EUR][1000 genomes]
rs55984256	1.00[EUR][1000 genomes]
rs56010221	1.00[EUR][1000 genomes]
rs56020318	1.00[EUR][1000 genomes]
rs56908156	1.00[EUR][1000 genomes]
rs57134155	1.00[EUR][1000 genomes]
rs58042425	1.00[EUR][1000 genomes]
rs58584688	1.00[EUR][1000 genomes]
rs58870954	1.00[EUR][1000 genomes]
rs58903833	1.00[EUR][1000 genomes]
rs61579851	1.00[EUR][1000 genomes]
rs61678895	1.00[EUR][1000 genomes]
rs6492943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6492946	1.00[EUR][1000 genomes]
rs6492948	1.00[EUR][1000 genomes]
rs6492949	1.00[EUR][1000 genomes]
rs7162308	1.00[EUR][1000 genomes]
rs7164094	1.00[EUR][1000 genomes]
rs7164281	1.00[EUR][1000 genomes]
rs7165233	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7165670	1.00[EUR][1000 genomes]
rs7168197	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168416	1.00[EUR][1000 genomes]
rs7173079	1.00[EUR][1000 genomes]
rs7173239	1.00[EUR][1000 genomes]
rs7175153	1.00[EUR][1000 genomes]
rs7176418	1.00[EUR][1000 genomes]
rs7182052	1.00[EUR][1000 genomes]
rs73383123	1.00[EUR][1000 genomes]
rs73385108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385114	1.00[EUR][1000 genomes]
rs73389487	1.00[EUR][1000 genomes]
rs73389489	1.00[EUR][1000 genomes]
rs73389492	1.00[EUR][1000 genomes]
rs73390167	1.00[EUR][1000 genomes]
rs73390168	1.00[EUR][1000 genomes]
rs73390187	1.00[EUR][1000 genomes]
rs74011172	1.00[EUR][1000 genomes]
rs74011173	1.00[EUR][1000 genomes]
rs74011174	1.00[EUR][1000 genomes]
rs8023956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8025846	1.00[EUR][1000 genomes]
rs8033915	1.00[EUR][1000 genomes]
rs8034169	1.00[EUR][1000 genomes]
rs8037881	1.00[EUR][1000 genomes]
rs8038243	1.00[EUR][1000 genomes]
rs8039298	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040231	1.00[EUR][1000 genomes]
rs8364	1.00[EUR][1000 genomes]
rs9672591	1.00[EUR][1000 genomes]
rs9672893	1.00[AMR][1000 genomes];1.00[EUR][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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv933460	chr15:40695017-40700467	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40697200-40699000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:40697200-40699200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr15:40697400-40699000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr15:40697400-40699000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr15:40697400-40699000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr15:40697400-40699000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:40697400-40699000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr15:40697400-40699000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr15:40697400-40699000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr15:40697400-40699200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr15:40697600-40699000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:40697600-40699000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:40697600-40699400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:40697600-40699600	Active TSS	NHDF-Ad	bronchial
15	chr15:40697600-40699800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:40697800-40699000	Active TSS	HSMMtube	muscle
17	chr15:40697800-40699000	Active TSS	NH-A	brain
18	chr15:40697800-40699200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr15:40697800-40699200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr15:40698200-40699000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr15:40698200-40699000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr15:40698200-40699000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr15:40698200-40699000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr15:40698200-40699000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr15:40698200-40699800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:40698400-40699000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:40698400-40699000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:40698400-40699000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:40698400-40699000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:40698400-40699000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:40698400-40699000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:40698400-40699000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr15:40698400-40699000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr15:40698400-40699000	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr15:40698400-40699000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr15:40698400-40699000	Flanking Active TSS	Hela-S3	cervix
37	chr15:40698400-40699000	Flanking Active TSS	HSMM	muscle
38	chr15:40698400-40699000	Flanking Active TSS	HUVEC	blood vessel
39	chr15:40698400-40699000	Flanking Active TSS	NHLF	lung
40	chr15:40698400-40699000	Flanking Active TSS	Osteobl	bone
41	chr15:40698400-40699200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr15:40698400-40699200	Flanking Active TSS	Liver	Liver
43	chr15:40698600-40699000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr15:40698600-40699000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr15:40698600-40699000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:40698600-40699000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:40698600-40699000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:40698600-40699000	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr15:40698600-40699000	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr15:40698600-40699000	Flanking Active TSS	Fetal Intestine Small	intestine

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