Variant report

Variant	rs73243298
Chromosome Location	chr5:118745212-118745213
allele	A/C
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	chr5:118651113..118651977-chr5:118744627..118745684,3	MCF-7	breast:
2	chr5:118735517..118740583-chr5:118741661..118745688,4	K562	blood:
3	chr5:118322603..118326136-chr5:118745091..118748767,5	MCF-7	breast:
4	chr5:118670103..118672210-chr5:118744741..118746294,2	MCF-7	breast:
5	chr5:118741260..118743708-chr5:118743722..118746283,2	K562	blood:
6	chr5:118735372..118737947-chr5:118745123..118746974,2	MCF-7	breast:
7	chr5:118738543..118740922-chr5:118742917..118745688,4	K562	blood:
8	chr5:118368716..118371473-chr5:118745001..118746920,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35150552	1.00[AMR][1000 genomes]
rs35331622	1.00[AMR][1000 genomes]
rs35416500	1.00[AMR][1000 genomes]
rs36121886	1.00[AMR][1000 genomes]
rs58047446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73243212	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246550	1.00[AMR][1000 genomes]
rs73246563	1.00[AMR][1000 genomes]
rs73246569	1.00[AMR][1000 genomes]
rs73249955	1.00[AMR][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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv965533	chr5:118738884-118762384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:118723000-118747600	Weak transcription	Pancreas	Pancrea
3	chr5:118729600-118747400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:118731800-118746600	Weak transcription	Primary T cells from cord blood	blood
5	chr5:118734000-118747400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:118735000-118747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:118735800-118746200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:118736400-118746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:118736800-118747400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:118739000-118746200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:118739600-118746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:118739600-118747000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:118739800-118747000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:118741200-118746600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:118741400-118746400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:118741400-118747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:118741400-118747400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:118741600-118746800	Weak transcription	K562	blood
19	chr5:118741600-118747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:118741600-118747400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:118742800-118746600	Weak transcription	Primary B cells from cord blood	blood
22	chr5:118744400-118746200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:118744800-118747400	Enhancers	Primary B cells from peripheral blood	blood
24	chr5:118744800-118747400	Enhancers	GM12878-XiMat	blood
25	chr5:118745000-118745400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:118745000-118745400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:118745200-118745400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr5:118745200-118745400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:118745200-118747400	Enhancers	Fetal Thymus	thymus
30	chr5:118745200-118747600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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