Variant report

Variant	rs10469849
Chromosome Location	chr2:100318617-100318618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100311599..100313102-chr2:100315819..100318642,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12466624	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468845	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100303600-100336800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:100309200-100320800	Weak transcription	Gastric	stomach
5	chr2:100309200-100323200	Weak transcription	Spleen	Spleen
6	chr2:100310800-100323400	Strong transcription	Primary B cells from cord blood	blood
7	chr2:100312000-100320800	Weak transcription	Left Ventricle	heart
8	chr2:100312400-100321800	Weak transcription	Fetal Brain Female	brain
9	chr2:100313600-100321800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:100315000-100320600	Weak transcription	Fetal Heart	heart
11	chr2:100315000-100322600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:100315000-100336800	Weak transcription	Aorta	Aorta
13	chr2:100315400-100322800	Weak transcription	Fetal Kidney	kidney
14	chr2:100316000-100320200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:100316000-100320400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:100316000-100320400	Weak transcription	Osteobl	bone
17	chr2:100316200-100320200	Weak transcription	NH-A	brain
18	chr2:100316200-100327200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:100316800-100321800	Weak transcription	Dnd41	blood
20	chr2:100317000-100318800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:100317600-100318800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:100317600-100320200	Weak transcription	Ovary	ovary
23	chr2:100317800-100320200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:100317800-100320800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:100317800-100320800	Weak transcription	Pancreas	Pancrea
26	chr2:100317800-100322800	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:100317800-100323200	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:100317800-100326800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:100317800-100327200	Weak transcription	Right Atrium	heart
30	chr2:100318200-100318800	Enhancers	Fetal Brain Male	brain
31	chr2:100318400-100322400	Weak transcription	Fetal Lung	lung
32	chr2:100318600-100320400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:100318600-100320400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:100318600-100321400	Weak transcription	Primary T cells from cord blood	blood

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