Variant report

Variant	rs9600551
Chromosome Location	chr13:76364023-76364024
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2273995	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs3783027	1.00[EUR][1000 genomes]
rs56915688	1.00[EUR][1000 genomes]
rs57908776	1.00[EUR][1000 genomes]
rs58875660	1.00[EUR][1000 genomes]
rs59762752	1.00[EUR][1000 genomes]
rs685938	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7324230	0.81[JPT][hapmap]
rs73542522	1.00[EUR][1000 genomes]
rs73542559	1.00[EUR][1000 genomes]
rs74096469	1.00[EUR][1000 genomes]
rs7995235	1.00[EUR][1000 genomes]
rs7998891	1.00[EUR][1000 genomes]
rs7999724	1.00[EUR][1000 genomes]
rs8001459	1.00[EUR][1000 genomes]
rs9318372	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9318374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9593125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593126	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593127	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9593128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600553	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
2	chr13:76343400-76370800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr13:76350000-76371000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr13:76353400-76370600	Weak transcription	Primary T cells from cord blood	blood
5	chr13:76355600-76370800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr13:76357000-76368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:76358200-76370800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr13:76358200-76371400	Weak transcription	NHEK	skin
9	chr13:76360200-76367000	Genic enhancers	Osteobl	bone
10	chr13:76361000-76364400	Enhancers	NHLF	lung
11	chr13:76361200-76364200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr13:76361400-76364200	Enhancers	HepG2	liver
13	chr13:76361400-76364200	Enhancers	NH-A	brain
14	chr13:76361400-76364600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:76361400-76364600	Enhancers	Stomach Mucosa	stomach
16	chr13:76361400-76366400	Enhancers	Liver	Liver
17	chr13:76361600-76364600	Enhancers	NHDF-Ad	bronchial
18	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr13:76361800-76364200	Enhancers	Fetal Intestine Large	intestine
20	chr13:76361800-76377400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:76362000-76364200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr13:76362000-76366000	Enhancers	Fetal Heart	heart
23	chr13:76362000-76366400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr13:76362000-76366400	Enhancers	A549	lung
25	chr13:76362000-76376600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr13:76362200-76364400	Enhancers	HUVEC	blood vessel
27	chr13:76362200-76364600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:76362200-76365800	Active TSS	HSMMtube	muscle
29	chr13:76362400-76364200	Enhancers	Right Atrium	heart
30	chr13:76362400-76364200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr13:76362400-76364600	Enhancers	Left Ventricle	heart
32	chr13:76362600-76364600	Enhancers	Gastric	stomach
33	chr13:76362600-76364800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr13:76362600-76377000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:76362800-76364200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:76362800-76364200	Enhancers	Right Ventricle	heart
37	chr13:76362800-76364400	Enhancers	Aorta	Aorta
38	chr13:76362800-76364400	Enhancers	Lung	lung
39	chr13:76362800-76366400	Genic enhancers	Fetal Intestine Small	intestine
40	chr13:76363000-76364200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:76363000-76364600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr13:76363000-76364600	Enhancers	Psoas Muscle	Psoas
43	chr13:76363000-76364800	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr13:76363000-76364800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr13:76363000-76366000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:76363000-76377000	Weak transcription	GM12878-XiMat	blood
47	chr13:76363200-76364200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr13:76363200-76366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:76363200-76366200	Weak transcription	Fetal Lung	lung
50	chr13:76363200-76370800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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