Variant report

Variant	rs1650283
Chromosome Location	chr12:21786893-21786894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10841863	0.82[AFR][1000 genomes]
rs10841864	0.82[AFR][1000 genomes]
rs10841865	0.82[AFR][1000 genomes]
rs10841866	0.82[AFR][1000 genomes]
rs1624003	0.82[AFR][1000 genomes]
rs1626167	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs1626303	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs1630514	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs1650272	0.87[AFR][1000 genomes]
rs1650277	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs1650278	0.82[AFR][1000 genomes]
rs1650279	0.82[AFR][1000 genomes]
rs1650280	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs1650285	0.82[AFR][1000 genomes]
rs1650288	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs1650294	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs1650311	0.82[AFR][1000 genomes]
rs1677075	0.83[YRI][hapmap]
rs1677080	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs1677081	0.82[AFR][1000 genomes]
rs1677088	0.82[AFR][1000 genomes]
rs1677090	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs1677092	0.82[AFR][1000 genomes]
rs1677093	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs1677094	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs1677095	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs1677096	0.82[AFR][1000 genomes]
rs1677097	0.82[AFR][1000 genomes]
rs1677098	0.82[AFR][1000 genomes]
rs1677100	0.82[AFR][1000 genomes]
rs1677113	0.94[AFR][1000 genomes]
rs1677118	0.84[AFR][1000 genomes]
rs1677124	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs1677128	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs1677129	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs1677134	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs1677135	0.82[AFR][1000 genomes]
rs1677136	0.82[AFR][1000 genomes]
rs1677139	0.82[AFR][1000 genomes]
rs1677140	0.94[AFR][1000 genomes]
rs1677141	0.86[YRI][hapmap];0.80[AFR][1000 genomes]
rs255445	0.82[AFR][1000 genomes]
rs255450	0.82[AFR][1000 genomes]
rs255452	0.80[AFR][1000 genomes]
rs2617118	0.80[AFR][1000 genomes]
rs4438091	0.86[AFR][1000 genomes]
rs4762714	0.82[AFR][1000 genomes]
rs4762856	0.82[AFR][1000 genomes]
rs4762858	0.82[AFR][1000 genomes]
rs4762859	0.82[AFR][1000 genomes]
rs4762862	0.82[AFR][1000 genomes]
rs7299680	0.82[AFR][1000 genomes]
rs7300051	0.82[AFR][1000 genomes]
rs759933	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7974267	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21778800-21787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:21779600-21787200	Weak transcription	Brain Angular Gyrus	brain
3	chr12:21780400-21787000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:21781200-21787000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:21781200-21787200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:21781200-21787200	Weak transcription	Esophagus	oesophagus
7	chr12:21781200-21787200	Weak transcription	Pancreas	Pancrea
8	chr12:21781200-21787200	Weak transcription	Psoas Muscle	Psoas
9	chr12:21781200-21788200	Weak transcription	Right Ventricle	heart
10	chr12:21781200-21796400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:21781200-21809600	Weak transcription	Small Intestine	intestine
12	chr12:21781600-21787200	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:21781800-21787000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:21781800-21787200	Weak transcription	Spleen	Spleen
15	chr12:21782000-21787200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:21782000-21790600	Weak transcription	Fetal Heart	heart
17	chr12:21782200-21791000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:21782600-21787000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:21782600-21787200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:21782600-21805400	Weak transcription	Colonic Mucosa	Colon
21	chr12:21783000-21787200	Weak transcription	Brain Germinal Matrix	brain
22	chr12:21783600-21787200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:21783800-21787200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:21783800-21801600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:21784000-21789800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:21784000-21791000	Weak transcription	Fetal Brain Male	brain
27	chr12:21784200-21787200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:21784200-21789000	Strong transcription	Primary T cells from cord blood	blood
29	chr12:21784400-21787200	Weak transcription	HSMM	muscle
30	chr12:21784600-21787200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:21784600-21792400	Strong transcription	Fetal Thymus	thymus
32	chr12:21784800-21787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:21784800-21787200	Weak transcription	HMEC	breast
34	chr12:21784800-21787200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:21784800-21787600	Weak transcription	Hela-S3	cervix
36	chr12:21785000-21787000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:21785000-21787200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:21785000-21787200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:21785000-21787200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:21785000-21788600	Strong transcription	Left Ventricle	heart
41	chr12:21785000-21801400	Strong transcription	Dnd41	blood
42	chr12:21785200-21787200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:21785200-21787200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:21785200-21788800	Strong transcription	Thymus	Thymus
45	chr12:21785200-21793600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:21785200-21798600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:21785400-21787000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:21785400-21787000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:21785400-21787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:21785400-21787200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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