Variant report

Variant	rs11653644
Chromosome Location	chr17:46575908-46575909
allele	A/G
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	chr17:46575874..46579148-chr17:46581240..46583659,4	MCF-7	breast:
2	chr17:46574039..46576397-chr17:46577646..46580624,4	MCF-7	breast:
3	chr17:46553956..46556675-chr17:46573169..46576403,3	MCF-7	breast:
4	chr17:46569189..46572269-chr17:46574424..46577287,4	MCF-7	breast:
5	chr17:46575342..46577434-chr17:46588645..46590527,2	K562	blood:
6	chr17:46568685..46570931-chr17:46575612..46578799,3	MCF-7	breast:
7	chr17:46574929..46577618-chr17:46713950..46715500,2	K562	blood:
8	chr17:46564497..46566146-chr17:46575665..46577794,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206805	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11650389	1.00[EUR][1000 genomes]
rs11651053	0.87[EUR][1000 genomes]
rs11652654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11653539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11655171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11655546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11657206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2740759	0.87[EUR][1000 genomes]
rs59709353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985866	0.87[EUR][1000 genomes]
rs8065730	0.89[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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	esv1002528	chr17:46566180-46575960	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46570400-46576400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:46571000-46577800	Weak transcription	Colon Smooth Muscle	Colon
3	chr17:46573200-46577200	Weak transcription	A549	lung
4	chr17:46573400-46576400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr17:46574000-46576600	Enhancers	Fetal Stomach	stomach
6	chr17:46574200-46576200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:46574200-46576200	Enhancers	Fetal Kidney	kidney
8	chr17:46574200-46576400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr17:46574200-46576400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr17:46574200-46576800	Enhancers	NHEK	skin
11	chr17:46574200-46577800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr17:46574200-46578400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr17:46574200-46578600	Enhancers	HSMM	muscle
14	chr17:46574200-46579400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:46574400-46577000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:46574600-46588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:46574800-46576400	Enhancers	HSMMtube	muscle
18	chr17:46574800-46577400	Weak transcription	K562	blood
19	chr17:46574800-46582800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:46574800-46582800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:46574800-46582800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:46575400-46576000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr17:46575400-46576000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr17:46575400-46576200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr17:46575400-46577200	Enhancers	Placenta	Placenta
26	chr17:46575600-46576200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr17:46575800-46576000	Enhancers	Rectal Smooth Muscle	rectum
28	chr17:46575800-46576200	Enhancers	Fetal Lung	lung
29	chr17:46575800-46576400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr17:46575800-46577000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:46575800-46577600	Weak transcription	NHLF	lung

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