Variant report

Variant	rs10821415
Chromosome Location	chr9:97713459-97713460
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1045276	0.80[YRI][hapmap]
rs10491560	0.81[YRI][hapmap]
rs10993365	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10993372	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10993377	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10993394	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993397	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10993398	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10993418	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1123534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11787821	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12235316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs183066	0.92[CEU][hapmap]
rs2183958	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2584806	0.92[CEU][hapmap]
rs356131	0.96[CEU][hapmap];0.84[CHB][hapmap]
rs391784	0.96[CEU][hapmap]
rs4385527	0.96[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4744378	0.96[CEU][hapmap]
rs4744403	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4744411	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7033633	0.84[YRI][hapmap]
rs7853195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7864171	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7865239	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1045849	chr9:97688810-97741336	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Atrial fibrillation	22544366	GWAS catalog

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97682000-97713800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:97685200-97714600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:97687000-97714000	Weak transcription	Thymus	Thymus
5	chr9:97700200-97714600	Weak transcription	Fetal Stomach	stomach
6	chr9:97700200-97718600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:97708800-97714000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:97708800-97715000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr9:97708800-97720000	Weak transcription	K562	blood
10	chr9:97709200-97730400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:97709600-97713600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr9:97709800-97713800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:97709800-97713800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:97710000-97713600	Enhancers	Brain Angular Gyrus	brain
15	chr9:97710000-97713600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:97710000-97715200	Enhancers	Ovary	ovary
17	chr9:97710000-97715600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:97710400-97715000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:97710600-97716000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr9:97710600-97716200	Enhancers	Left Ventricle	heart
21	chr9:97710600-97716800	Enhancers	Placenta	Placenta
22	chr9:97710800-97713800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:97710800-97714200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr9:97710800-97715600	Genic enhancers	HSMM	muscle
25	chr9:97711200-97715800	Enhancers	Brain Anterior Caudate	brain
26	chr9:97711200-97715800	Enhancers	Brain Substantia Nigra	brain
27	chr9:97711200-97716200	Enhancers	Fetal Muscle Leg	muscle
28	chr9:97711200-97719000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:97711400-97714600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:97711400-97714800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:97711400-97717400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:97711600-97715800	Enhancers	Brain Hippocampus Middle	brain
33	chr9:97711800-97714600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:97711800-97715800	Enhancers	Brain Cingulate Gyrus	brain
35	chr9:97711800-97716800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr9:97712000-97715400	Enhancers	Right Ventricle	heart
37	chr9:97712000-97716000	Enhancers	HSMMtube	muscle
38	chr9:97712200-97715600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:97712400-97714200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr9:97712400-97714200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr9:97712400-97714800	Enhancers	HepG2	liver
42	chr9:97712400-97715000	Enhancers	Spleen	Spleen
43	chr9:97712400-97715400	Enhancers	Liver	Liver
44	chr9:97712400-97715400	Enhancers	Esophagus	oesophagus
45	chr9:97712400-97715400	Enhancers	Fetal Muscle Trunk	muscle
46	chr9:97712400-97715400	Enhancers	Pancreas	Pancrea
47	chr9:97712400-97715400	Enhancers	Right Atrium	heart
48	chr9:97712400-97715600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:97712400-97715600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:97712400-97715600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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