Variant report

Variant	rs6876817
Chromosome Location	chr5:118736245-118736246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118735386..118738101-chr5:118752192..118755044,3	K562	blood:
2	chr5:118734864..118737274-chr5:118738803..118740813,2	MCF-7	breast:
3	chr5:118722584..118724806-chr5:118734610..118737360,3	K562	blood:
4	chr5:118735372..118737947-chr5:118745123..118746974,2	MCF-7	breast:
5	chr5:118735517..118740583-chr5:118741661..118745688,4	K562	blood:
6	chr5:118733874..118736884-chr5:118738369..118742486,6	K562	blood:
7	chr5:118734827..118736756-chr5:118738369..118740930,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10041464	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10055743	1.00[CEU][hapmap]
rs10060971	1.00[CHB][hapmap]
rs10064524	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10064783	1.00[CEU][hapmap]
rs10069480	1.00[CEU][hapmap]
rs17145259	1.00[CEU][hapmap]
rs3733856	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797344	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3797345	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3813312	0.91[ASN][1000 genomes]
rs55933899	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56303741	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59406275	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6860944	0.90[AFR][1000 genomes]
rs6882000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891981	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788136	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73790852	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73790861	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7701561	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7722172	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7723933	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7734378	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9327100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:118718600-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:118723000-118747600	Weak transcription	Pancreas	Pancrea
4	chr5:118725400-118741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:118725600-118737800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:118725800-118737800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:118725800-118737800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:118725800-118737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:118727000-118738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:118727000-118740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:118729000-118738600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:118729600-118738000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:118729600-118747400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:118730200-118738000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:118730200-118741000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:118731400-118736800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:118731600-118738000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:118731600-118738800	Weak transcription	Thymus	Thymus
19	chr5:118731800-118746600	Weak transcription	Primary T cells from cord blood	blood
20	chr5:118732200-118745000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:118732800-118736400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:118732800-118736600	Enhancers	NHEK	skin
23	chr5:118733000-118736800	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:118733200-118736800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr5:118733400-118736600	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:118733400-118736800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:118733600-118736400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:118733600-118736800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:118733800-118736400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:118733800-118736400	Enhancers	NHDF-Ad	bronchial
31	chr5:118734000-118736400	Enhancers	GM12878-XiMat	blood
32	chr5:118734000-118736400	Enhancers	Osteobl	bone
33	chr5:118734000-118736800	Enhancers	Hela-S3	cervix
34	chr5:118734000-118738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:118734000-118738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:118734000-118747400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:118734200-118741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:118734600-118736600	Enhancers	HMEC	breast
39	chr5:118734800-118736400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:118734800-118736400	Enhancers	Esophagus	oesophagus
41	chr5:118734800-118736400	Enhancers	Placenta	Placenta
42	chr5:118734800-118736400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr5:118734800-118736400	Enhancers	HepG2	liver
44	chr5:118734800-118736800	Enhancers	K562	blood
45	chr5:118735000-118737800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:118735000-118739200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:118735000-118739200	Weak transcription	NHLF	lung
48	chr5:118735000-118747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:118735200-118736400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:118735200-118736800	Enhancers	Stomach Smooth Muscle	stomach

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