Variant report

Variant	rs73966412
Chromosome Location	chr2:100674559-100674560
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	chr2:100667612..100670539-chr2:100674025..100676308,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11891517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896622	0.80[AFR][1000 genomes]
rs55982857	1.00[EUR][1000 genomes]
rs73966411	1.00[EUR][1000 genomes]

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	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
2	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100656400-100680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100656600-100686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:100659400-100680000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:100660600-100678200	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:100662200-100684800	Weak transcription	Ovary	ovary
6	chr2:100663000-100680800	Weak transcription	Fetal Kidney	kidney
7	chr2:100663000-100682200	Weak transcription	Fetal Heart	heart
8	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
9	chr2:100666800-100675000	Strong transcription	Primary B cells from cord blood	blood
10	chr2:100666800-100675800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:100667800-100688000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:100669400-100675400	Weak transcription	Thymus	Thymus
13	chr2:100669400-100676200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:100669400-100681200	Weak transcription	Brain Germinal Matrix	brain
15	chr2:100669800-100680600	Weak transcription	Fetal Brain Female	brain
16	chr2:100670800-100676000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:100671200-100678600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:100671800-100676200	Weak transcription	Gastric	stomach
19	chr2:100671800-100676400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:100672400-100674600	Enhancers	Fetal Lung	lung
21	chr2:100672400-100675600	Weak transcription	Primary T cells from cord blood	blood
22	chr2:100672600-100675200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:100672800-100675000	Enhancers	Osteobl	bone
24	chr2:100672800-100682400	Weak transcription	Fetal Brain Male	brain
25	chr2:100673200-100674600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:100673400-100675000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:100673600-100676200	Weak transcription	Placenta	Placenta
28	chr2:100673800-100675000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:100673800-100675400	Weak transcription	Fetal Thymus	thymus
30	chr2:100674000-100674800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:100674000-100674800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:100674000-100674800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:100674000-100674800	Enhancers	Adipose Nuclei	Adipose
34	chr2:100674000-100674800	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:100674000-100674800	Genic enhancers	Dnd41	blood
36	chr2:100674000-100675200	Enhancers	NH-A	brain
37	chr2:100674200-100674800	Enhancers	Colon Smooth Muscle	Colon

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