Variant report

Variant	rs3923913
Chromosome Location	chr3:48842864-48842865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13315282	1.00[AMR][1000 genomes]
rs13324117	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap]
rs28413015	1.00[AMR][1000 genomes]
rs7430684	1.00[AMR][1000 genomes]
rs9811724	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9826085	1.00[AMR][1000 genomes]
rs9838123	1.00[AMR][1000 genomes]
rs9841401	1.00[AMR][1000 genomes]
rs9850498	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs9852448	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs9867665	0.84[LWK][hapmap];1.00[MEX][hapmap]

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	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48789400-48844000	Weak transcription	Fetal Lung	lung
2	chr3:48809000-48849400	Weak transcription	GM12878-XiMat	blood
3	chr3:48810000-48882800	Weak transcription	Fetal Brain Female	brain
4	chr3:48810400-48848600	Weak transcription	Brain Anterior Caudate	brain
5	chr3:48820400-48868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:48820600-48882800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:48820800-48843200	Weak transcription	Right Ventricle	heart
8	chr3:48820800-48847200	Weak transcription	NHDF-Ad	bronchial
9	chr3:48821000-48849000	Weak transcription	NHLF	lung
10	chr3:48821000-48858000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:48821000-48858200	Weak transcription	Gastric	stomach
12	chr3:48822200-48843600	Weak transcription	Fetal Intestine Large	intestine
13	chr3:48822200-48855800	Weak transcription	Lung	lung
14	chr3:48822400-48848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:48822400-48857800	Weak transcription	NHEK	skin
16	chr3:48822400-48858200	Weak transcription	HSMMtube	muscle
17	chr3:48826400-48868400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:48826800-48847200	Weak transcription	Primary T cells from cord blood	blood
19	chr3:48826800-48847200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:48826800-48847200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:48826800-48847200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:48826800-48847600	Weak transcription	Brain Germinal Matrix	brain
23	chr3:48826800-48848800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:48826800-48858200	Weak transcription	Brain Angular Gyrus	brain
25	chr3:48826800-48869600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:48826800-48882800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:48827000-48847200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr3:48827000-48847200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:48827000-48848800	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:48827000-48850600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:48827600-48845200	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:48827600-48850200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:48827800-48847400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:48827800-48848200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:48827800-48858000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:48827800-48865600	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:48828000-48846600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:48828000-48849400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr3:48828200-48848800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:48828400-48848600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:48828400-48849600	Weak transcription	Osteobl	bone
42	chr3:48831000-48857600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:48831200-48846600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr3:48831200-48857200	Weak transcription	Ovary	ovary
45	chr3:48831400-48843600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:48831400-48844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:48831400-48849200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:48831400-48858000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:48831600-48847200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:48833800-48863600	Weak transcription	HSMM	muscle

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