Variant report

Variant	rs9596086
Chromosome Location	chr13:49935307-49935308
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11619585	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1198500	1.00[ASN][1000 genomes]
rs1198501	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1198502	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1198503	0.83[ASN][1000 genomes]
rs12323025	0.88[EUR][1000 genomes]
rs4942819	0.89[EUR][1000 genomes]
rs4942824	0.88[EUR][1000 genomes]
rs4942825	0.88[EUR][1000 genomes]
rs56232559	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320297	0.89[EUR][1000 genomes]
rs7998999	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8000300	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs9596084	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596085	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
3	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:49895800-49935600	Weak transcription	Esophagus	oesophagus
6	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:49915000-49941400	Weak transcription	Brain Hippocampus Middle	brain
8	chr13:49922200-49937600	Weak transcription	Fetal Brain Male	brain
9	chr13:49922200-49937600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr13:49922400-49940800	Weak transcription	Lung	lung
11	chr13:49922400-49946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:49922400-49947800	Weak transcription	Right Ventricle	heart
13	chr13:49922800-49951400	Weak transcription	Gastric	stomach
14	chr13:49923200-49937800	Weak transcription	Primary B cells from cord blood	blood
15	chr13:49923200-49951200	Weak transcription	Pancreas	Pancrea
16	chr13:49926400-49937600	Weak transcription	Brain Substantia Nigra	brain
17	chr13:49926800-49937800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:49929000-49936000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr13:49929400-49950000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:49929600-49936400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr13:49929800-49937000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:49929800-49937600	Weak transcription	Liver	Liver
23	chr13:49931000-49935400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:49932000-49938000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr13:49932200-49936600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:49932200-49941800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:49932200-49944600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:49932400-49941400	Weak transcription	NHLF	lung
29	chr13:49932800-49935600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:49933800-49935800	Weak transcription	Fetal Muscle Leg	muscle
31	chr13:49933800-49937200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:49933800-49937200	Weak transcription	Fetal Brain Female	brain
33	chr13:49933800-49937800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr13:49933800-49941600	Weak transcription	Ovary	ovary
35	chr13:49934000-49936400	Weak transcription	Brain Anterior Caudate	brain
36	chr13:49934000-49937600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr13:49934000-49937800	Weak transcription	Primary T cells from cord blood	blood
38	chr13:49934000-49937800	Weak transcription	Adipose Nuclei	Adipose
39	chr13:49934200-49938000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr13:49934200-49941400	Weak transcription	Fetal Heart	heart
41	chr13:49934200-49942600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr13:49934200-49957400	Weak transcription	Left Ventricle	heart
43	chr13:49935000-49940800	Weak transcription	Aorta	Aorta
44	chr13:49935200-49935400	Enhancers	Colon Smooth Muscle	Colon

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