Variant report

Variant	rs12468845
Chromosome Location	chr2:100278651-100278652
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10469849	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10496338	1.00[AFR][1000 genomes]
rs12466624	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12467621	1.00[AFR][1000 genomes]
rs28369939	1.00[AFR][1000 genomes]
rs6718629	1.00[AFR][1000 genomes]
rs72817037	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72817082	1.00[AFR][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:56 , 50 per page) page: 1 2

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	chr2:100260200-100283600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:100261400-100279000	Weak transcription	Fetal Kidney	kidney
7	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:100264200-100281800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:100268400-100287800	Strong transcription	Primary B cells from cord blood	blood
10	chr2:100268800-100282400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:100269200-100288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:100269600-100280200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:100270000-100278800	Weak transcription	NH-A	brain
14	chr2:100271600-100279400	Weak transcription	Brain Substantia Nigra	brain
15	chr2:100271600-100280200	Weak transcription	Fetal Brain Female	brain
16	chr2:100271800-100279200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:100272800-100281800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:100273200-100280800	Enhancers	Adipose Nuclei	Adipose
19	chr2:100274000-100279200	Weak transcription	Psoas Muscle	Psoas
20	chr2:100274000-100279200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:100274000-100279200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:100274000-100279400	Weak transcription	Fetal Lung	lung
23	chr2:100274000-100282000	Weak transcription	Aorta	Aorta
24	chr2:100274200-100297400	Weak transcription	Liver	Liver
25	chr2:100275400-100278800	Enhancers	Fetal Muscle Leg	muscle
26	chr2:100275800-100291000	Weak transcription	Lung	lung
27	chr2:100276400-100279800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:100276400-100279800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:100276400-100302000	Weak transcription	Left Ventricle	heart
30	chr2:100276600-100282400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:100276600-100284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:100276600-100295800	Weak transcription	Right Atrium	heart
33	chr2:100276800-100281400	Weak transcription	Primary T cells from cord blood	blood
34	chr2:100277000-100280400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:100277000-100281000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:100277400-100279200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:100277400-100279200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:100277600-100278800	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:100277600-100279000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:100277600-100279000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:100277600-100279400	Weak transcription	Brain Germinal Matrix	brain
42	chr2:100277600-100279600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:100277800-100279000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:100277800-100279000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:100277800-100279200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:100277800-100279200	Weak transcription	Ovary	ovary
47	chr2:100277800-100279400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:100277800-100282800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:100277800-100286400	Weak transcription	Pancreas	Pancrea
50	chr2:100278000-100285400	Weak transcription	Monocytes-CD14+_RO01746	blood

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