Variant report

Variant	rs1334309
Chromosome Location	chr9:72084649-72084650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12001157	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12006272	0.89[AFR][1000 genomes]
rs12554528	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12555572	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17081638	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17081810	0.87[CEU][hapmap]
rs2777876	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2777877	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2989950	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4636268	0.88[YRI][hapmap];0.89[AFR][1000 genomes]
rs7036538	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs72715090	0.83[AMR][1000 genomes]
rs72717199	0.84[AFR][1000 genomes]
rs72719005	0.89[AFR][1000 genomes]
rs7861451	0.89[AFR][1000 genomes]
rs7862458	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7871753	1.00[CEU][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9314684	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats 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
2	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1048650	chr9:72028458-72179847	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1037109	chr9:72040184-72120270	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1039966	chr9:72057304-72181564	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv430067	chr9:72080989-72116806	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72046400-72085600	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:72070800-72085600	Weak transcription	Gastric	stomach
3	chr9:72077200-72086800	Weak transcription	Fetal Brain Male	brain
4	chr9:72079000-72086400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:72079000-72091600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:72079200-72086200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:72079800-72085000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:72080400-72089400	Weak transcription	Fetal Thymus	thymus
9	chr9:72081200-72087000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:72081400-72085600	Weak transcription	Left Ventricle	heart
11	chr9:72081600-72090600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:72081800-72085800	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:72081800-72086200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr9:72082000-72091000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:72082200-72090600	Weak transcription	Fetal Lung	lung
16	chr9:72082200-72091000	Weak transcription	Fetal Stomach	stomach
17	chr9:72082400-72085600	Weak transcription	Brain Anterior Caudate	brain
18	chr9:72082400-72090200	Weak transcription	Spleen	Spleen
19	chr9:72082400-72091200	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:72082600-72086600	Weak transcription	Fetal Brain Female	brain
21	chr9:72082800-72085400	Weak transcription	Aorta	Aorta
22	chr9:72082800-72085600	Weak transcription	Ovary	ovary
23	chr9:72082800-72085800	Weak transcription	Brain Substantia Nigra	brain
24	chr9:72082800-72088000	Enhancers	Liver	Liver
25	chr9:72082800-72091000	Weak transcription	Esophagus	oesophagus
26	chr9:72082800-72091400	Weak transcription	Brain Germinal Matrix	brain
27	chr9:72083000-72085600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:72083000-72085600	Weak transcription	Pancreas	Pancrea
29	chr9:72083000-72087800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:72083000-72088200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:72083000-72089800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr9:72083000-72091000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:72083200-72086200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:72083200-72087200	Weak transcription	Brain Angular Gyrus	brain
35	chr9:72084200-72085600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:72084200-72086400	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr9:72084400-72086000	Enhancers	Fetal Intestine Small	intestine
38	chr9:72084400-72086200	Enhancers	Fetal Intestine Large	intestine
39	chr9:72084400-72087000	Enhancers	Stomach Mucosa	stomach
40	chr9:72084400-72087600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr9:72084600-72085800	Weak transcription	HUVEC	blood vessel

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