Variant report

Variant	rs1650281
Chromosome Location	chr12:21784382-21784383
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21784249..21785911-chr12:21797410..21799380,2	K562	blood:
2	chr12:21784247..21785944-chr12:21787399..21789296,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1616506	0.86[AFR][1000 genomes]
rs1630589	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1650275	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2114897	0.84[AFR][1000 genomes]
rs7974553	0.80[ASN][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21767200-21785800	Weak transcription	A549	lung
2	chr12:21769200-21785000	Weak transcription	Dnd41	blood
3	chr12:21769200-21785400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:21769400-21786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:21771600-21785600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:21773200-21786800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:21777600-21786200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:21778800-21787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:21779000-21786800	Weak transcription	Ovary	ovary
10	chr12:21779400-21785200	Weak transcription	Thymus	Thymus
11	chr12:21779600-21785600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:21779600-21787200	Weak transcription	Brain Angular Gyrus	brain
13	chr12:21780000-21786000	Weak transcription	Brain Anterior Caudate	brain
14	chr12:21780400-21785000	Weak transcription	Left Ventricle	heart
15	chr12:21780400-21787000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:21780600-21785600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:21780600-21786200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:21780600-21786800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:21780800-21786200	Weak transcription	Fetal Stomach	stomach
20	chr12:21781000-21785200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:21781000-21785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:21781000-21785800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:21781200-21786200	Weak transcription	Fetal Intestine Small	intestine
24	chr12:21781200-21786200	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:21781200-21787000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:21781200-21787200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:21781200-21787200	Weak transcription	Esophagus	oesophagus
28	chr12:21781200-21787200	Weak transcription	Pancreas	Pancrea
29	chr12:21781200-21787200	Weak transcription	Psoas Muscle	Psoas
30	chr12:21781200-21788200	Weak transcription	Right Ventricle	heart
31	chr12:21781200-21796400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:21781200-21809600	Weak transcription	Small Intestine	intestine
33	chr12:21781600-21787200	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:21781800-21786200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:21781800-21787000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:21781800-21787200	Weak transcription	Spleen	Spleen
37	chr12:21782000-21786200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:21782000-21786400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:21782000-21787200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:21782000-21790600	Weak transcription	Fetal Heart	heart
41	chr12:21782200-21791000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:21782600-21787000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:21782600-21787200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:21782600-21805400	Weak transcription	Colonic Mucosa	Colon
45	chr12:21782800-21785800	Weak transcription	Primary B cells from cord blood	blood
46	chr12:21783000-21785400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:21783000-21787200	Weak transcription	Brain Germinal Matrix	brain
48	chr12:21783600-21786200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:21783600-21787200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:21783800-21784400	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links