Variant report

Variant	rs13107595
Chromosome Location	chr4:95578588-95578589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95576960..95578807-chr4:95581385..95584282,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10031667	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10033359	1.00[CEU][hapmap]
rs13141591	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2452587	1.00[CEU][hapmap]
rs2865371	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6532493	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6823559	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834677	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7662768	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7662914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs774983	1.00[CEU][hapmap]
rs966845	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:95525000-95586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:95525000-95590000	Weak transcription	Lung	lung
4	chr4:95527800-95592200	Weak transcription	Pancreas	Pancrea
5	chr4:95533800-95594200	Weak transcription	Gastric	stomach
6	chr4:95537600-95592800	Weak transcription	Fetal Stomach	stomach
7	chr4:95538000-95585200	Weak transcription	Colonic Mucosa	Colon
8	chr4:95538200-95582600	Weak transcription	Hela-S3	cervix
9	chr4:95538200-95586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:95538600-95587000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:95540000-95587000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:95540200-95597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:95541200-95595600	Weak transcription	Primary T cells from cord blood	blood
14	chr4:95541400-95580200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:95543000-95586000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:95543000-95586400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:95549000-95586600	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:95555200-95578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:95555200-95581800	Weak transcription	Ovary	ovary
20	chr4:95557200-95588600	Weak transcription	GM12878-XiMat	blood
21	chr4:95557400-95583800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:95557800-95586200	Weak transcription	Thymus	Thymus
23	chr4:95558200-95580800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:95559000-95590200	Weak transcription	Right Ventricle	heart
25	chr4:95561400-95585200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:95561600-95580200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:95563200-95584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:95563600-95583400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:95563600-95589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:95563800-95579400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:95563800-95583400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:95563800-95583400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:95564000-95581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:95564000-95587000	Weak transcription	NHLF	lung
35	chr4:95564000-95595000	Weak transcription	NHDF-Ad	bronchial
36	chr4:95567800-95582200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:95567800-95587400	Weak transcription	HepG2	liver
38	chr4:95570000-95581800	Weak transcription	Esophagus	oesophagus
39	chr4:95570400-95581000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:95570800-95582800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:95570800-95599800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:95571400-95587400	Weak transcription	Fetal Kidney	kidney
43	chr4:95571600-95581400	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:95571800-95580600	Strong transcription	HSMM	muscle
45	chr4:95572200-95578600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:95572200-95583200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:95572200-95586400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:95572400-95588800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:95573600-95595000	Weak transcription	Small Intestine	intestine
50	chr4:95573800-95578600	Weak transcription	Brain Substantia Nigra	brain

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