Variant report

Variant	rs9850498
Chromosome Location	chr3:48869464-48869465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13315282	1.00[AMR][1000 genomes]
rs13324117	1.00[ASW][hapmap];0.91[LWK][hapmap]
rs28413015	1.00[AMR][1000 genomes]
rs35989076	1.00[CEU][hapmap]
rs3923913	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs7430684	1.00[AMR][1000 genomes]
rs9811724	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[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]
rs9852448	1.00[ASW][hapmap];0.83[LWK][hapmap]
rs9867665	0.91[LWK][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48810000-48882800	Weak transcription	Fetal Brain Female	brain
2	chr3:48820600-48882800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:48826800-48869600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:48826800-48882800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:48842200-48871200	Weak transcription	Fetal Stomach	stomach
6	chr3:48850400-48870600	Weak transcription	Primary B cells from cord blood	blood
7	chr3:48850600-48882600	Weak transcription	Primary T cells from cord blood	blood
8	chr3:48850800-48871600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:48850800-48882600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr3:48850800-48882600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:48851000-48882400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:48851800-48874400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr3:48855800-48884000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:48857400-48874600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:48857400-48882600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:48857600-48882600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:48858000-48882600	Weak transcription	Brain Germinal Matrix	brain
18	chr3:48858600-48882400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:48858600-48882800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:48858800-48872800	Weak transcription	Right Ventricle	heart
21	chr3:48858800-48873400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:48858800-48882600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:48858800-48882600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:48858800-48882800	Weak transcription	Gastric	stomach
25	chr3:48859200-48882800	Weak transcription	Lung	lung
26	chr3:48861600-48871200	Weak transcription	Fetal Intestine Small	intestine
27	chr3:48864200-48882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:48864200-48883200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:48864400-48874400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:48864600-48870400	Weak transcription	Ovary	ovary
31	chr3:48864600-48875200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:48864600-48882600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:48864600-48882800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:48864800-48882400	Weak transcription	HSMM	muscle
35	chr3:48865000-48870000	Weak transcription	Brain Substantia Nigra	brain
36	chr3:48865200-48869800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:48865200-48869800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:48865200-48869800	Weak transcription	Osteobl	bone
39	chr3:48865200-48882400	Weak transcription	Liver	Liver
40	chr3:48865200-48882800	Weak transcription	NHLF	lung
41	chr3:48865400-48870000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:48865800-48870000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:48865800-48882600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:48866000-48873200	Weak transcription	K562	blood
45	chr3:48866600-48871600	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:48868200-48870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:48868200-48870600	Enhancers	Adipose Nuclei	Adipose
48	chr3:48868200-48882600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr3:48868400-48882800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:48868600-48869800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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