Variant report

Variant	rs7987099
Chromosome Location	chr13:110917111-110917112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1532323	0.83[ASN][1000 genomes]
rs494558	0.85[ASN][1000 genomes]
rs578937	0.81[ASN][1000 genomes]
rs579019	0.81[ASN][1000 genomes]
rs648031	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7330914	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9555679	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9555680	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9559754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559755	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559757	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9559758	1.00[EUR][1000 genomes];0.84[ASN][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	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110901000-110919400	Weak transcription	Fetal Brain Male	brain
2	chr13:110904200-110918200	Weak transcription	Pancreas	Pancrea
3	chr13:110909200-110917800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:110911200-110917200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:110911200-110924000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:110911800-110918800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:110912200-110924000	Enhancers	Left Ventricle	heart
8	chr13:110912400-110917800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:110912400-110919600	Enhancers	NHDF-Ad	bronchial
10	chr13:110912800-110917200	Enhancers	Placenta	Placenta
11	chr13:110913200-110917200	Enhancers	Fetal Muscle Leg	muscle
12	chr13:110913400-110920200	Enhancers	Fetal Heart	heart
13	chr13:110913600-110917400	Enhancers	Fetal Intestine Large	intestine
14	chr13:110913800-110917400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr13:110914000-110917400	Enhancers	Colonic Mucosa	Colon
16	chr13:110914000-110917800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr13:110914000-110917800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:110914000-110917800	Enhancers	Fetal Stomach	stomach
19	chr13:110914000-110918000	Enhancers	Ovary	ovary
20	chr13:110914000-110918400	Enhancers	Lung	lung
21	chr13:110914000-110922600	Enhancers	Right Atrium	heart
22	chr13:110914200-110917200	Enhancers	Fetal Lung	lung
23	chr13:110914200-110918200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:110914400-110917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:110914400-110917200	Enhancers	Fetal Muscle Trunk	muscle
26	chr13:110914600-110917800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:110914800-110918400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:110914800-110919400	Weak transcription	Esophagus	oesophagus
29	chr13:110915200-110918600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:110915200-110920000	Enhancers	HUVEC	blood vessel
31	chr13:110915200-110936200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:110915400-110917200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr13:110915400-110918400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr13:110915400-110919400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:110915400-110919800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:110915400-110920000	Enhancers	Colon Smooth Muscle	Colon
37	chr13:110915600-110917400	Enhancers	Rectal Smooth Muscle	rectum
38	chr13:110915600-110917400	Weak transcription	HMEC	breast
39	chr13:110915600-110918400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:110915600-110918600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:110915600-110919000	Enhancers	NHLF	lung
42	chr13:110915600-110935800	Weak transcription	Gastric	stomach
43	chr13:110916000-110917200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:110916200-110918400	Enhancers	NHEK	skin
45	chr13:110916200-110918800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr13:110916200-110921400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr13:110916400-110918000	Enhancers	Fetal Kidney	kidney
48	chr13:110916400-110918200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:110916400-110918600	Genic enhancers	Right Ventricle	heart
50	chr13:110916400-110918800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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