Variant report

Variant	rs8000333
Chromosome Location	chr13:95904259-95904260
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	chr13:95898278..95901890-chr13:95902438..95906069,3	K562	blood:
2	chr13:95898930..95900924-chr13:95902230..95904877,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2027444	1.00[EUR][1000 genomes]
rs2389226	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2389227	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2389228	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4773861	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4773862	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7320383	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7322029	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7329514	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7335275	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7336202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7982955	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9524866	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9556467	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95861600-95906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:95879200-95907400	Weak transcription	Small Intestine	intestine
3	chr13:95879200-95914000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
5	chr13:95884800-95906400	Weak transcription	Hela-S3	cervix
6	chr13:95887000-95918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:95888000-95909000	Weak transcription	Fetal Stomach	stomach
8	chr13:95888400-95906800	Weak transcription	Gastric	stomach
9	chr13:95890000-95907600	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:95890800-95906400	Weak transcription	Osteobl	bone
11	chr13:95891800-95908000	Weak transcription	Esophagus	oesophagus
12	chr13:95892600-95905400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr13:95893000-95905400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr13:95896200-95923400	Weak transcription	Ovary	ovary
15	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:95898800-95906200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:95898800-95906600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:95898800-95908000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:95898800-95919600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:95899000-95906000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr13:95899000-95910000	Weak transcription	Fetal Intestine Large	intestine
22	chr13:95899000-95919600	Weak transcription	Fetal Lung	lung
23	chr13:95899400-95907000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:95899800-95906000	Weak transcription	NHEK	skin
25	chr13:95899800-95919600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:95900000-95906200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:95900000-95906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:95900000-95906200	Weak transcription	NHDF-Ad	bronchial
29	chr13:95900000-95906200	Weak transcription	NHLF	lung
30	chr13:95900000-95907400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:95900000-95907600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr13:95900000-95908000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr13:95900000-95910200	Weak transcription	Fetal Intestine Small	intestine
34	chr13:95900000-95918600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr13:95900000-95918800	Weak transcription	Lung	lung
36	chr13:95900000-95919000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr13:95900000-95920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr13:95900600-95906000	Weak transcription	HUVEC	blood vessel
39	chr13:95900600-95907000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:95902200-95904800	Weak transcription	HepG2	liver
41	chr13:95903600-95904400	Flanking Active TSS	GM12878-XiMat	blood
42	chr13:95903600-95904400	Enhancers	HSMMtube	muscle
43	chr13:95904000-95910400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr13:95904000-95917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:95904200-95904400	Flanking Active TSS	A549	lung
46	chr13:95904200-95905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:95904200-95905400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:95904200-95906000	Weak transcription	HSMM	muscle
49	chr13:95904200-95906600	Weak transcription	K562	blood

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