Variant report

Variant	rs17386541
Chromosome Location	chr5:118740848-118740849
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118734827..118736756-chr5:118738369..118740930,2	K562	blood:
2	chr5:118740750..118742654-chr5:118753714..118755578,2	K562	blood:
3	chr5:118738573..118740948-chr5:118745923..118747452,2	K562	blood:
4	chr5:118739304..118742654-chr5:118752620..118755578,3	K562	blood:
5	chr5:118738543..118740922-chr5:118742917..118745688,4	K562	blood:
6	chr5:118733874..118736884-chr5:118738369..118742486,6	K562	blood:
7	chr5:118732923..118735569-chr5:118740820..118742719,2	MCF-7	breast:

No data

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1105771	0.97[ASN][1000 genomes]
rs11241502	0.95[ASN][1000 genomes]
rs2459726	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs26184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2636961	1.00[JPT][hapmap]
rs2636964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2636968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2678070	1.00[CHB][hapmap]
rs27938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs32651	1.00[CHB][hapmap]
rs382719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs422297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs426899	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs439954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs442923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs450118	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs463513	1.00[CHB][hapmap]
rs467076	1.00[CHB][hapmap];1.00[JPT][hapmap]

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:35 , 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	chr5:118725400-118741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118729600-118747400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:118730200-118741000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:118731800-118746600	Weak transcription	Primary T cells from cord blood	blood
7	chr5:118732200-118745000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:118734000-118747400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:118734200-118741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:118735000-118747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:118735800-118745200	Weak transcription	Fetal Thymus	thymus
12	chr5:118735800-118746200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:118736400-118746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:118736800-118745000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:118736800-118747400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:118738000-118741400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:118738600-118741000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:118738600-118745200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:118739000-118741000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:118739000-118746200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:118739400-118741600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:118739400-118742800	Enhancers	Primary B cells from cord blood	blood
23	chr5:118739600-118746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:118739600-118747000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:118739800-118742800	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:118739800-118747000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:118740200-118741600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr5:118740600-118741200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr5:118740600-118741400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:118740800-118741200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:118740800-118741200	Enhancers	Fetal Heart	heart
32	chr5:118740800-118741400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:118740800-118741400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:118740800-118741400	Flanking Active TSS	GM12878-XiMat	blood
35	chr5:118740800-118741600	Enhancers	K562	blood

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