Variant report

Variant	rs12712053
Chromosome Location	chr2:100270498-100270499
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100268908..100271113-chr2:100272207..100274701,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11123788	0.81[EUR][1000 genomes]
rs11682649	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55779695	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6710594	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	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
4	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100255400-100285400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:100255400-100285400	Weak transcription	Dnd41	blood
4	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
5	chr2:100259400-100274600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:100260200-100283600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:100260800-100274400	Weak transcription	Right Atrium	heart
8	chr2:100261400-100279000	Weak transcription	Fetal Kidney	kidney
9	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:100264200-100281800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:100266200-100273400	Weak transcription	Fetal Heart	heart
12	chr2:100266400-100271000	Weak transcription	Fetal Brain Female	brain
13	chr2:100266400-100277200	Weak transcription	Brain Germinal Matrix	brain
14	chr2:100268400-100272200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:100268400-100287800	Strong transcription	Primary B cells from cord blood	blood
16	chr2:100268800-100270800	Weak transcription	Osteobl	bone
17	chr2:100268800-100282400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:100269000-100271000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:100269000-100273400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:100269200-100288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:100269400-100271000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:100269400-100271200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:100269600-100273400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:100269600-100273600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:100269600-100275400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:100269600-100280200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:100269800-100271800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:100269800-100277200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:100270000-100278800	Weak transcription	NH-A	brain
30	chr2:100270200-100270600	Enhancers	Brain Anterior Caudate	brain
31	chr2:100270200-100273400	Weak transcription	Left Ventricle	heart
32	chr2:100270200-100274400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:100270200-100275600	Weak transcription	Lung	lung
34	chr2:100270400-100271000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:100270400-100271400	Weak transcription	Fetal Brain Male	brain

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