Variant report

Variant	rs3862049
Chromosome Location	chr3:105563964-105563965
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1020327	1.00[AMR][1000 genomes]
rs1025885	1.00[AMR][1000 genomes]
rs1025886	1.00[AMR][1000 genomes]
rs1036877	1.00[AMR][1000 genomes]
rs1039545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10933832	1.00[AMR][1000 genomes]
rs1348348	1.00[AMR][1000 genomes]
rs1443099	1.00[AMR][1000 genomes]
rs1443107	1.00[AMR][1000 genomes]
rs1503922	1.00[AMR][1000 genomes]
rs1548056	1.00[AMR][1000 genomes]
rs1561920	1.00[AMR][1000 genomes]
rs1822348	1.00[AMR][1000 genomes]
rs1838045	1.00[AMR][1000 genomes]
rs1867428	1.00[AMR][1000 genomes]
rs1867429	1.00[AMR][1000 genomes]
rs1963622	1.00[AMR][1000 genomes]
rs1992520	1.00[AMR][1000 genomes]
rs2197351	1.00[AMR][1000 genomes]
rs2221379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4243428	1.00[AMR][1000 genomes]
rs4282093	1.00[AMR][1000 genomes]
rs4613490	1.00[AMR][1000 genomes]
rs4894945	1.00[AMR][1000 genomes]
rs4894947	1.00[AMR][1000 genomes]
rs4894948	1.00[AMR][1000 genomes]
rs4894959	1.00[AMR][1000 genomes]
rs4894961	1.00[AMR][1000 genomes]
rs6437615	1.00[AMR][1000 genomes]
rs6437617	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6437625	1.00[AMR][1000 genomes]
rs6765716	1.00[AMR][1000 genomes]
rs6768096	1.00[AMR][1000 genomes]
rs6791888	0.82[AFR][1000 genomes]
rs6804286	1.00[AMR][1000 genomes]
rs6805573	0.94[AFR][1000 genomes]
rs6805675	1.00[AMR][1000 genomes]
rs7622735	1.00[AMR][1000 genomes]
rs7643647	1.00[AMR][1000 genomes]
rs7649437	1.00[AMR][1000 genomes]
rs9288816	1.00[AMR][1000 genomes]
rs9288819	1.00[AMR][1000 genomes]
rs9288820	1.00[AMR][1000 genomes]
rs976961	1.00[AMR][1000 genomes]
rs976962	1.00[AMR][1000 genomes]
rs9809911	1.00[AMR][1000 genomes]
rs9811870	1.00[AMR][1000 genomes]
rs981479	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9830539	1.00[AMR][1000 genomes]
rs9831221	1.00[AMR][1000 genomes]
rs9833645	1.00[AMR][1000 genomes]
rs9838768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9859644	1.00[AMR][1000 genomes]
rs9866153	0.85[AFR][1000 genomes]
rs9872290	1.00[AMR][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	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv508234	chr3:105549864-105565806	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1008564	chr3:105554580-105643435	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1008876	chr3:105554580-105645373	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv877312	chr3:105560638-105916506	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105511400-105566400	Weak transcription	Aorta	Aorta
2	chr3:105533800-105570000	Weak transcription	Dnd41	blood
3	chr3:105534200-105566200	Weak transcription	Brain Germinal Matrix	brain
4	chr3:105540800-105569600	Weak transcription	Fetal Thymus	thymus
5	chr3:105542600-105566000	Weak transcription	Fetal Stomach	stomach
6	chr3:105543400-105581200	Weak transcription	Gastric	stomach
7	chr3:105543800-105571000	Weak transcription	Lung	lung
8	chr3:105544200-105584600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:105546600-105586200	Weak transcription	Esophagus	oesophagus
10	chr3:105549000-105571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:105549200-105564400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:105550000-105569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:105553400-105564000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:105554000-105566400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:105555200-105566400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:105555800-105564400	Weak transcription	HMEC	breast
17	chr3:105555800-105565800	Weak transcription	Right Atrium	heart
18	chr3:105555800-105576600	Weak transcription	Psoas Muscle	Psoas
19	chr3:105556200-105566600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:105556200-105570200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:105556200-105571600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:105556200-105579000	Weak transcription	Stomach Mucosa	stomach
23	chr3:105556400-105565400	Weak transcription	NHLF	lung
24	chr3:105556400-105565600	Weak transcription	Adipose Nuclei	Adipose
25	chr3:105556400-105566200	Weak transcription	Fetal Heart	heart
26	chr3:105556400-105568000	Weak transcription	HSMM	muscle
27	chr3:105556600-105569600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:105556600-105569800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr3:105557000-105565400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:105557800-105579200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:105557800-105586200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:105558000-105565400	Weak transcription	NHDF-Ad	bronchial
33	chr3:105558200-105571800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:105558600-105586600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:105558800-105564200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:105561200-105565000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:105561200-105565800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr3:105561200-105566400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:105561600-105564400	Weak transcription	Primary B cells from cord blood	blood
40	chr3:105561600-105564400	Weak transcription	Fetal Intestine Large	intestine
41	chr3:105561600-105564800	Enhancers	Brain Substantia Nigra	brain
42	chr3:105561600-105566000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:105561600-105566200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:105561600-105569600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:105561600-105569600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:105561600-105569600	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:105561600-105586200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:105561800-105564400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:105561800-105569800	Weak transcription	HSMMtube	muscle
50	chr3:105562000-105564400	Weak transcription	Primary T cells from cord blood	blood

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