Variant report

Variant	rs7990186
Chromosome Location	chr13:111098628-111098629
allele	C/T
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:6)

rs_ID	r²[population]
rs1018643	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1018644	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4771679	0.89[EUR][1000 genomes]
rs4771680	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6492275	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7489705	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv901008	chr13:111089573-111126501	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111068000-111107000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:111070200-111108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:111078200-111099000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
5	chr13:111083600-111110000	Weak transcription	Esophagus	oesophagus
6	chr13:111084200-111106400	Weak transcription	Liver	Liver
7	chr13:111084400-111100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:111084800-111098800	Strong transcription	Fetal Stomach	stomach
9	chr13:111086000-111105800	Strong transcription	Adipose Nuclei	Adipose
10	chr13:111087400-111099400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:111087400-111099600	Weak transcription	Pancreas	Pancrea
12	chr13:111088000-111107800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr13:111089400-111100000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr13:111091000-111108400	Weak transcription	Brain Angular Gyrus	brain
15	chr13:111092600-111099400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:111092600-111099400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:111093800-111099400	Weak transcription	Fetal Lung	lung
18	chr13:111093800-111099600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr13:111093800-111101400	Genic enhancers	NH-A	brain
20	chr13:111093800-111108200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr13:111094000-111102000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr13:111094000-111102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:111094600-111099600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:111094800-111099400	Enhancers	HMEC	breast
25	chr13:111094800-111099600	Strong transcription	Placenta	Placenta
26	chr13:111094800-111108200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr13:111095000-111101600	Genic enhancers	HSMM	muscle
28	chr13:111095000-111108400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr13:111095200-111099400	Weak transcription	Fetal Kidney	kidney
30	chr13:111095800-111099000	Strong transcription	Fetal Muscle Leg	muscle
31	chr13:111095800-111104600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr13:111095800-111108200	Strong transcription	Fetal Intestine Small	intestine
33	chr13:111095800-111108400	Weak transcription	Brain Substantia Nigra	brain
34	chr13:111096200-111101400	Weak transcription	Fetal Brain Male	brain
35	chr13:111096400-111100000	Weak transcription	A549	lung
36	chr13:111096400-111104400	Strong transcription	HUVEC	blood vessel
37	chr13:111096600-111099400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:111096600-111099400	Weak transcription	NHDF-Ad	bronchial
39	chr13:111096600-111101200	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr13:111096600-111105400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:111096800-111099400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr13:111096800-111100000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:111096800-111100000	Weak transcription	Hela-S3	cervix
44	chr13:111096800-111107200	Weak transcription	Fetal Heart	heart
45	chr13:111096800-111108400	Weak transcription	Brain Germinal Matrix	brain
46	chr13:111097000-111099400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:111097000-111100000	Strong transcription	Osteobl	bone
48	chr13:111097000-111100200	Enhancers	GM12878-XiMat	blood
49	chr13:111097000-111109000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:111097400-111099600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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