Variant report

Variant	rs9830049
Chromosome Location	chr3:105284045-105284046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1044243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13315085	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13315918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13317140	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13317379	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13320956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13322383	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13325976	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17181561	0.86[AMR][1000 genomes]
rs17181701	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17189101	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17189643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28452673	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3772552	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73006164	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs751554	0.82[AMR][1000 genomes]
rs7610031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7633779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7645474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288807	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9288811	0.96[ASN][1000 genomes]
rs9828587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9831077	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9832489	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9839346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840990	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9841699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9842772	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9842815	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9843750	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9847971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9851399	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9855810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9859785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9873424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9876895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9876906	0.82[AMR][1000 genomes]
rs9878315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv460811	chr3:105212993-105316769	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv591240	chr3:105212993-105316769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105242000-105293600	Weak transcription	Lung	lung
3	chr3:105246600-105284400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:105248400-105291200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:105249800-105285200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:105260800-105297000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:105260800-105299800	Weak transcription	Pancreas	Pancrea
8	chr3:105263000-105295400	Weak transcription	Brain Angular Gyrus	brain
9	chr3:105267600-105293800	Weak transcription	Brain Anterior Caudate	brain
10	chr3:105268400-105297800	Weak transcription	NHLF	lung
11	chr3:105271600-105297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:105271600-105303000	Weak transcription	Aorta	Aorta
13	chr3:105271800-105285800	Weak transcription	HUVEC	blood vessel
14	chr3:105272000-105291200	Weak transcription	Brain Substantia Nigra	brain
15	chr3:105272200-105312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:105272400-105302800	Weak transcription	NHEK	skin
17	chr3:105273000-105295200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:105273200-105292200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:105273200-105294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:105273200-105295800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:105273200-105303000	Weak transcription	HMEC	breast
22	chr3:105273400-105285600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:105273400-105287800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:105273400-105292800	Weak transcription	Ovary	ovary
25	chr3:105273400-105297600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr3:105273400-105297600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:105273400-105299800	Weak transcription	NHDF-Ad	bronchial
28	chr3:105273800-105291000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:105273800-105297400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:105274000-105291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:105274000-105303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:105274600-105293400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:105277200-105299200	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:105277400-105284400	Weak transcription	NH-A	brain
35	chr3:105278600-105287200	Weak transcription	HSMM	muscle
36	chr3:105278600-105289800	Weak transcription	Primary B cells from cord blood	blood
37	chr3:105278600-105290800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:105278600-105297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:105278600-105297400	Weak transcription	GM12878-XiMat	blood
40	chr3:105278800-105289200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:105278800-105290600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:105278800-105290800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:105281400-105289400	Weak transcription	Osteobl	bone
44	chr3:105283000-105285200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr3:105283000-105286200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:105283200-105284200	Enhancers	Fetal Intestine Large	intestine
47	chr3:105283200-105289400	Weak transcription	Liver	Liver
48	chr3:105283400-105286400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr3:105283600-105288600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:105283800-105285600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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