Variant report

Variant	rs2023799
Chromosome Location	chr17:45911275-45911276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45911092-45912102	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr17:45911274-45911449	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr17:45911163-45911291	MCF-7	breast:	n/a	n/a
4	POLR2A	chr17:45910075-45912166	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45910559..45913334-chr17:45936113..45939006,2	MCF-7	breast:
2	chr17:45910473..45912367-chr17:46035358..46036860,2	MCF-7	breast:
3	chr17:45894310..45903569-chr17:45906761..45911816,14	MCF-7	breast:
4	chr17:45909693..45911747-chr17:45950278..45952452,2	K562	blood:

Variant related genes	Relation type
MRPL10	TF binding region
ENSG00000006025	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1008934	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1985407	0.83[ASN][1000 genomes]
rs2074191	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6503871	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7220419	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs757061	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8079715	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs878171	0.82[ASN][1000 genomes]
rs9907142	0.85[EUR][1000 genomes]
rs9914156	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45909200-45912800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:45909200-45916800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:45909400-45911800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr17:45909400-45912600	Weak transcription	HSMMtube	muscle
5	chr17:45909400-45913200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:45909400-45913200	Enhancers	Spleen	Spleen
7	chr17:45909400-45915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr17:45909400-45917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:45909600-45911400	Weak transcription	Left Ventricle	heart
10	chr17:45909600-45911600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:45909600-45911800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr17:45909600-45911800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:45909600-45911800	Weak transcription	HUVEC	blood vessel
14	chr17:45909600-45912200	Weak transcription	Fetal Stomach	stomach
15	chr17:45909600-45912600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:45909600-45912600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:45909600-45912600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:45909600-45912600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:45909600-45912600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:45909600-45912600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr17:45909600-45912600	Weak transcription	Gastric	stomach
22	chr17:45909600-45912600	Weak transcription	Right Ventricle	heart
23	chr17:45909600-45912800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:45909600-45912800	Weak transcription	Brain Germinal Matrix	brain
25	chr17:45909600-45912800	Weak transcription	Colonic Mucosa	Colon
26	chr17:45909600-45912800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr17:45909600-45913000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr17:45909600-45913000	Enhancers	Adipose Nuclei	Adipose
29	chr17:45909600-45913200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr17:45909600-45913200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr17:45909600-45913200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr17:45909600-45913200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr17:45909600-45913200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:45909600-45913200	Weak transcription	Esophagus	oesophagus
35	chr17:45909600-45913200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:45909600-45913200	Weak transcription	A549	lung
37	chr17:45909600-45913400	Weak transcription	Aorta	Aorta
38	chr17:45909600-45913400	Weak transcription	Ovary	ovary
39	chr17:45909600-45913400	Weak transcription	Pancreas	Pancrea
40	chr17:45909600-45913400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr17:45909600-45913400	Weak transcription	HSMM	muscle
42	chr17:45909600-45913400	Weak transcription	NHLF	lung
43	chr17:45909600-45914400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr17:45909600-45914400	Weak transcription	NH-A	brain
45	chr17:45909600-45915200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr17:45909600-45915400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr17:45909600-45917000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:45909600-45917000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:45909600-45917200	Weak transcription	Stomach Mucosa	stomach
50	chr17:45909600-45917400	Weak transcription	H9 Cell Line	embryonic stem cell

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