Variant report

Variant	rs12105223
Chromosome Location	chr2:100054918-100054919
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28369921	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28369931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28369951	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28382874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28382896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28382903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28382913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28382920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6650787	1.00[AMR][1000 genomes]
rs6650788	1.00[AMR][1000 genomes]
rs6650789	1.00[AMR][1000 genomes]
rs6650790	1.00[AMR][1000 genomes]
rs7571793	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574943	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1014161	chr2:100021040-100063406	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99999400-100056800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:100005800-100062600	Strong transcription	Dnd41	blood
3	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:100021200-100077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:100022200-100059000	Strong transcription	Liver	Liver
7	chr2:100032600-100078000	Weak transcription	Psoas Muscle	Psoas
8	chr2:100034000-100055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:100034200-100055000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:100034200-100088800	Weak transcription	Small Intestine	intestine
11	chr2:100036800-100074800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:100038200-100055200	Weak transcription	Gastric	stomach
13	chr2:100038200-100063200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:100038200-100073800	Weak transcription	Esophagus	oesophagus
15	chr2:100040000-100055200	Weak transcription	Colonic Mucosa	Colon
16	chr2:100041000-100055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:100041000-100056600	Weak transcription	Fetal Brain Male	brain
18	chr2:100041200-100055200	Weak transcription	Brain Angular Gyrus	brain
19	chr2:100041400-100055000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:100041400-100055200	Weak transcription	Aorta	Aorta
21	chr2:100041400-100077800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:100041600-100083400	Weak transcription	Brain Substantia Nigra	brain
23	chr2:100042200-100055000	Weak transcription	Fetal Kidney	kidney
24	chr2:100042800-100065000	Weak transcription	Lung	lung
25	chr2:100044800-100055200	Weak transcription	Right Ventricle	heart
26	chr2:100044800-100055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:100045000-100064200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:100045400-100068200	Weak transcription	Ovary	ovary
29	chr2:100047800-100063200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:100048200-100055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:100048200-100090600	Weak transcription	Stomach Mucosa	stomach
32	chr2:100048400-100055000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:100048400-100055000	Weak transcription	Brain Germinal Matrix	brain
34	chr2:100048400-100055000	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:100048400-100055000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:100048400-100055000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:100048400-100055000	Weak transcription	HSMMtube	muscle
38	chr2:100048400-100055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:100048400-100055200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:100048400-100055200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:100048400-100055200	Weak transcription	Left Ventricle	heart
42	chr2:100048400-100055200	Weak transcription	Pancreas	Pancrea
43	chr2:100048400-100055200	Weak transcription	Thymus	Thymus
44	chr2:100048400-100067800	Weak transcription	Fetal Heart	heart
45	chr2:100048600-100055000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:100048600-100055000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:100048600-100055000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:100048600-100055200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:100048600-100055200	Weak transcription	Fetal Stomach	stomach
50	chr2:100048600-100055200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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