Variant report

Variant	rs7021992
Chromosome Location	chr9:14134836-14134837
allele	G/T
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:27)

rs_ID	r²[population]
rs10511590	0.92[EUR][1000 genomes]
rs10738353	0.85[EUR][1000 genomes]
rs10810092	0.92[EUR][1000 genomes]
rs10961384	0.83[EUR][1000 genomes]
rs10961385	0.84[EUR][1000 genomes]
rs13284590	0.87[EUR][1000 genomes]
rs13298724	0.85[EUR][1000 genomes]
rs16931379	0.93[EUR][1000 genomes]
rs17210326	0.88[EUR][1000 genomes]
rs2307079	0.82[EUR][1000 genomes]
rs2382436	0.84[EUR][1000 genomes]
rs35381921	0.90[EUR][1000 genomes]
rs36097937	0.88[EUR][1000 genomes]
rs3780582	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs475732	0.85[EUR][1000 genomes]
rs510970	0.83[EUR][1000 genomes]
rs551272	0.85[EUR][1000 genomes]
rs551362	0.85[EUR][1000 genomes]
rs552338	0.85[EUR][1000 genomes]
rs571693	0.83[EUR][1000 genomes]
rs576216	0.84[EUR][1000 genomes]
rs693566	0.85[EUR][1000 genomes]
rs7018755	0.87[EUR][1000 genomes]
rs7024088	0.83[EUR][1000 genomes]
rs7032993	0.84[EUR][1000 genomes]
rs7034613	0.85[EUR][1000 genomes]
rs7863254	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	esv1802101	chr9:14125907-14137320	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv892595	chr9:14129951-14168029	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14097400-14135400	Weak transcription	HSMMtube	muscle
2	chr9:14108800-14143800	Weak transcription	Fetal Intestine Small	intestine
3	chr9:14116400-14137800	Weak transcription	Small Intestine	intestine
4	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:14116800-14156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
8	chr9:14120200-14159000	Weak transcription	NHLF	lung
9	chr9:14120600-14151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:14120600-14154800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:14120600-14159000	Weak transcription	NH-A	brain
12	chr9:14120800-14135400	Weak transcription	NHEK	skin
13	chr9:14121600-14143600	Weak transcription	Brain Substantia Nigra	brain
14	chr9:14123800-14136000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:14123800-14198600	Weak transcription	Gastric	stomach
16	chr9:14126400-14135400	Weak transcription	HMEC	breast
17	chr9:14126400-14148200	Weak transcription	Placenta	Placenta
18	chr9:14126600-14142000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:14126800-14144800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:14127000-14136600	Weak transcription	A549	lung
21	chr9:14127000-14139200	Weak transcription	HSMM	muscle
22	chr9:14127000-14140600	Weak transcription	Lung	lung
23	chr9:14127000-14146000	Weak transcription	Osteobl	bone
24	chr9:14127000-14151200	Weak transcription	Aorta	Aorta
25	chr9:14127000-14156400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:14128200-14139400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:14131200-14135000	Strong transcription	Fetal Muscle Leg	muscle
28	chr9:14131400-14135400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr9:14131400-14136600	Weak transcription	Fetal Brain Male	brain
30	chr9:14131800-14173200	Weak transcription	Pancreas	Pancrea
31	chr9:14132000-14135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:14132000-14144600	Weak transcription	Fetal Brain Female	brain
33	chr9:14132800-14136600	Enhancers	Fetal Lung	lung
34	chr9:14133000-14137600	Strong transcription	HUVEC	blood vessel
35	chr9:14133000-14144800	Weak transcription	Left Ventricle	heart
36	chr9:14133400-14153200	Weak transcription	Psoas Muscle	Psoas
37	chr9:14133600-14135600	Weak transcription	Brain Germinal Matrix	brain
38	chr9:14133800-14137200	Weak transcription	Brain Anterior Caudate	brain
39	chr9:14133800-14140200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:14133800-14143800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr9:14133800-14146000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:14133800-14146200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:14134000-14148000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr9:14134000-14151000	Weak transcription	Adipose Nuclei	Adipose
45	chr9:14134000-14181000	Weak transcription	Ovary	ovary
46	chr9:14134200-14137000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:14134200-14143400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr9:14134200-14144400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:14134200-14144600	Weak transcription	Fetal Heart	heart
50	chr9:14134200-14145600	Weak transcription	Liver	Liver

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