Variant report

Variant	rs2382436
Chromosome Location	chr9:14125509-14125510
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10511590	0.91[EUR][1000 genomes]
rs10738353	0.94[EUR][1000 genomes]
rs10810092	0.86[EUR][1000 genomes]
rs10961384	0.97[EUR][1000 genomes]
rs10961385	0.92[EUR][1000 genomes]
rs13284590	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13298724	0.98[EUR][1000 genomes]
rs16931379	0.89[EUR][1000 genomes]
rs17210326	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307079	0.93[EUR][1000 genomes]
rs35381921	0.94[EUR][1000 genomes]
rs36097937	0.96[EUR][1000 genomes]
rs3780582	0.80[EUR][1000 genomes]
rs475732	0.93[EUR][1000 genomes]
rs483669	0.87[EUR][1000 genomes]
rs498010	0.86[EUR][1000 genomes]
rs510970	0.91[EUR][1000 genomes]
rs551272	0.95[EUR][1000 genomes]
rs551362	0.95[EUR][1000 genomes]
rs552338	0.93[EUR][1000 genomes]
rs571693	0.90[EUR][1000 genomes]
rs576216	0.93[EUR][1000 genomes]
rs693566	0.95[EUR][1000 genomes]
rs7018755	0.95[EUR][1000 genomes]
rs7021992	0.84[EUR][1000 genomes]
rs7024088	0.86[EUR][1000 genomes]
rs7032993	0.87[EUR][1000 genomes]
rs7034613	0.93[EUR][1000 genomes]
rs7863254	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14097400-14135400	Weak transcription	HSMMtube	muscle
2	chr9:14101800-14128200	Weak transcription	Esophagus	oesophagus
3	chr9:14103400-14128400	Weak transcription	Brain Angular Gyrus	brain
4	chr9:14107000-14126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:14108000-14127400	Weak transcription	Stomach Mucosa	stomach
6	chr9:14108800-14143800	Weak transcription	Fetal Intestine Small	intestine
7	chr9:14110000-14128400	Weak transcription	Fetal Kidney	kidney
8	chr9:14110200-14127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:14115400-14127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:14116200-14127000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr9:14116400-14137800	Weak transcription	Small Intestine	intestine
12	chr9:14116600-14128000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:14116600-14133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:14116800-14125600	Weak transcription	Ovary	ovary
17	chr9:14116800-14128600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:14116800-14156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
20	chr9:14117400-14130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:14118400-14126200	Weak transcription	HSMM	muscle
22	chr9:14118400-14127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:14120200-14159000	Weak transcription	NHLF	lung
24	chr9:14120400-14130200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:14120600-14125600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:14120600-14126400	Weak transcription	Fetal Brain Male	brain
27	chr9:14120600-14127000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:14120600-14127600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:14120600-14128400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:14120600-14130400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:14120600-14131400	Weak transcription	Pancreas	Pancrea
32	chr9:14120600-14132600	Weak transcription	Psoas Muscle	Psoas
33	chr9:14120600-14133600	Weak transcription	Right Ventricle	heart
34	chr9:14120600-14151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr9:14120600-14154800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:14120600-14159000	Weak transcription	NH-A	brain
37	chr9:14120800-14125600	Weak transcription	Osteobl	bone
38	chr9:14120800-14135400	Weak transcription	NHEK	skin
39	chr9:14121000-14126000	Weak transcription	Fetal Heart	heart
40	chr9:14121200-14127000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:14121600-14129000	Weak transcription	Brain Hippocampus Middle	brain
42	chr9:14121600-14143600	Weak transcription	Brain Substantia Nigra	brain
43	chr9:14122000-14127600	Strong transcription	HUVEC	blood vessel
44	chr9:14122200-14126800	Strong transcription	Fetal Brain Female	brain
45	chr9:14122400-14127600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr9:14122800-14125800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr9:14122800-14127000	Strong transcription	Fetal Muscle Leg	muscle
48	chr9:14123000-14126000	Weak transcription	A549	lung
49	chr9:14123000-14128000	Weak transcription	Fetal Intestine Large	intestine
50	chr9:14123800-14136000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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