Variant report

Variant	rs9588144
Chromosome Location	chr13:111003198-111003199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4771670	0.93[AMR][1000 genomes]
rs57274138	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58900271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59030659	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59530640	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9588143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9588145	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110972600-111007200	Weak transcription	Gastric	stomach
2	chr13:110993800-111007200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:110994000-111004400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:110994000-111019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:110994400-111007200	Weak transcription	Fetal Kidney	kidney
6	chr13:110995200-111005200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr13:110995200-111007000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:110995400-111004200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:110995600-111005800	Weak transcription	Fetal Lung	lung
10	chr13:110996000-111009800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:110999200-111003600	Enhancers	Right Atrium	heart
12	chr13:110999800-111004400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:110999800-111005000	Weak transcription	Fetal Intestine Large	intestine
14	chr13:111000000-111009400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:111000000-111009800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:111000200-111005800	Weak transcription	Fetal Intestine Small	intestine
17	chr13:111000400-111004000	Enhancers	Fetal Muscle Leg	muscle
18	chr13:111000400-111004600	Weak transcription	Aorta	Aorta
19	chr13:111000400-111005000	Weak transcription	Colonic Mucosa	Colon
20	chr13:111000400-111007200	Weak transcription	Pancreas	Pancrea
21	chr13:111000600-111004400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:111000600-111008600	Weak transcription	Esophagus	oesophagus
23	chr13:111000600-111013800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:111000800-111004000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr13:111000800-111004600	Enhancers	NHEK	skin
26	chr13:111000800-111005000	Enhancers	Stomach Smooth Muscle	stomach
27	chr13:111000800-111019800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:111001000-111003200	Enhancers	HMEC	breast
29	chr13:111001000-111005000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr13:111001000-111009800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:111001200-111004400	Weak transcription	NHDF-Ad	bronchial
32	chr13:111001200-111009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:111001400-111003200	Strong transcription	Osteobl	bone
34	chr13:111001400-111006200	Enhancers	Left Ventricle	heart
35	chr13:111001600-111003200	Strong transcription	Fetal Stomach	stomach
36	chr13:111001600-111003400	Enhancers	Lung	lung
37	chr13:111001600-111003800	Enhancers	Fetal Muscle Trunk	muscle
38	chr13:111001600-111008000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:111001600-111012200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:111001800-111004000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:111001800-111009800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:111001800-111009800	Weak transcription	NHLF	lung
43	chr13:111002000-111003200	Genic enhancers	HSMM	muscle
44	chr13:111002000-111003800	Weak transcription	HUVEC	blood vessel
45	chr13:111002000-111004000	Weak transcription	A549	lung
46	chr13:111002000-111004400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr13:111002000-111010400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr13:111002000-111015200	Weak transcription	Brain Substantia Nigra	brain
49	chr13:111002200-111008800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:111002400-111004400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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