Variant report

Variant	rs9556514
Chromosome Location	chr13:96609478-96609479
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11619084	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1877475	0.82[ASN][1000 genomes]
rs2129003	0.84[EUR][1000 genomes]
rs72636587	0.80[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	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv900935	chr13:96497070-96631221	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96577000-96623200	Weak transcription	NHLF	lung
2	chr13:96584200-96611000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:96588800-96611200	Weak transcription	Gastric	stomach
4	chr13:96589000-96609600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:96589000-96609600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:96589000-96611000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:96589000-96611000	Weak transcription	Pancreas	Pancrea
8	chr13:96589000-96611800	Weak transcription	A549	lung
9	chr13:96589000-96611800	Weak transcription	HepG2	liver
10	chr13:96589000-96612000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:96589000-96615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:96589200-96609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:96589200-96609600	Weak transcription	Fetal Stomach	stomach
14	chr13:96591600-96611000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:96591600-96622000	Weak transcription	Hela-S3	cervix
16	chr13:96592200-96609600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:96592200-96611200	Weak transcription	Liver	Liver
18	chr13:96592200-96611800	Weak transcription	Aorta	Aorta
19	chr13:96592200-96612000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:96592200-96616200	Weak transcription	Brain Angular Gyrus	brain
21	chr13:96592400-96611400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:96594600-96613000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:96599000-96623600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr13:96599400-96620600	Weak transcription	HSMM	muscle
25	chr13:96599600-96613000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:96599600-96613000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:96600200-96611000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr13:96600200-96620800	Weak transcription	Osteobl	bone
29	chr13:96601200-96613200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:96601400-96611200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:96601600-96611000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:96601600-96611200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr13:96603200-96610200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:96604000-96611000	Weak transcription	Fetal Muscle Leg	muscle
35	chr13:96604000-96611600	Weak transcription	Ovary	ovary
36	chr13:96604000-96613000	Weak transcription	Right Ventricle	heart
37	chr13:96604000-96620600	Weak transcription	Left Ventricle	heart
38	chr13:96605000-96610000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr13:96605800-96612200	Weak transcription	Colon Smooth Muscle	Colon
40	chr13:96606200-96611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:96607600-96609600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:96607600-96609800	ZNF genes & repeats	GM12878-XiMat	blood
43	chr13:96608400-96609800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:96608600-96610000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr13:96608800-96609800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr13:96608800-96609800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:96608800-96610000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr13:96608800-96610000	ZNF genes & repeats	Fetal Lung	lung
49	chr13:96608800-96610000	Enhancers	K562	blood
50	chr13:96609000-96610000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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