Variant report

Variant	rs538058687
Chromosome Location	chr5:118739045-118739046
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118734827..118736756-chr5:118738369..118740930,2	K562	blood:
2	chr5:118738573..118740948-chr5:118745923..118747452,2	K562	blood:
3	chr5:118416688..118419081-chr5:118737050..118740009,2	K562	blood:
4	chr5:118737931..118739741-chr5:118741169..118742810,2	K562	blood:
5	chr5:118656628..118658967-chr5:118738022..118740798,2	K562	blood:
6	chr5:118738543..118740922-chr5:118742917..118745688,4	K562	blood:
7	chr5:118733874..118736884-chr5:118738369..118742486,6	K562	blood:
8	chr5:118735517..118740583-chr5:118741661..118745688,4	K562	blood:
9	chr5:118734864..118737274-chr5:118738803..118740813,2	MCF-7	breast:

No data

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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:40 , 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	chr5:118727000-118740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:118729600-118747400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:118730200-118741000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:118731800-118746600	Weak transcription	Primary T cells from cord blood	blood
8	chr5:118732200-118745000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:118734000-118747400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:118734200-118741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:118735000-118739200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:118735000-118739200	Weak transcription	NHLF	lung
13	chr5:118735000-118747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:118735200-118739400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:118735400-118740600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:118735800-118739400	Weak transcription	Primary B cells from cord blood	blood
17	chr5:118735800-118745200	Weak transcription	Fetal Thymus	thymus
18	chr5:118735800-118746200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:118736200-118740600	Weak transcription	Stomach Mucosa	stomach
20	chr5:118736200-118740800	Weak transcription	Fetal Heart	heart
21	chr5:118736400-118739600	Weak transcription	GM12878-XiMat	blood
22	chr5:118736400-118746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:118736600-118739800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:118736800-118745000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:118736800-118747400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:118737800-118739400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:118737800-118739400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:118737800-118739600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:118737800-118739800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:118737800-118739800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:118738000-118741400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:118738600-118741000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:118738600-118745200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:118738800-118739600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:118738800-118739600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:118739000-118739400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:118739000-118739800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:118739000-118740800	Weak transcription	K562	blood
39	chr5:118739000-118741000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:118739000-118746200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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