Variant report

Variant	rs1613889
Chromosome Location	chr12:21800639-21800640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21784403..21786252-chr12:21800427..21803138,2	K562	blood:
2	chr12:21724973..21728015-chr12:21798807..21802516,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1030452	0.92[AFR][1000 genomes]
rs1030453	0.92[AFR][1000 genomes]
rs1072992	0.92[AFR][1000 genomes]
rs1072993	0.92[AFR][1000 genomes]
rs1478293	0.92[AFR][1000 genomes]
rs1540405	0.92[AFR][1000 genomes]
rs1614040	0.92[AFR][1000 genomes]
rs1616390	0.92[AFR][1000 genomes]
rs1650286	0.92[AFR][1000 genomes]
rs1650287	0.92[AFR][1000 genomes]
rs1650289	0.92[AFR][1000 genomes]
rs1650290	0.92[AFR][1000 genomes]
rs1650291	0.92[AFR][1000 genomes]
rs1650293	0.92[AFR][1000 genomes]
rs1650295	0.92[AFR][1000 genomes]
rs1650297	0.89[AFR][1000 genomes]
rs1650300	0.93[AFR][1000 genomes]
rs1650301	0.92[AFR][1000 genomes]
rs1650305	0.92[AFR][1000 genomes]
rs1650306	0.92[AFR][1000 genomes]
rs1650310	0.92[AFR][1000 genomes]
rs1650312	0.92[AFR][1000 genomes]
rs1650314	0.92[AFR][1000 genomes]
rs1650315	0.92[AFR][1000 genomes]
rs1650318	0.92[AFR][1000 genomes]
rs1677078	0.92[AFR][1000 genomes]
rs1677079	0.92[AFR][1000 genomes]
rs1677085	0.92[AFR][1000 genomes]
rs1677104	0.92[AFR][1000 genomes]
rs1677105	0.92[AFR][1000 genomes]
rs1677106	0.92[AFR][1000 genomes]
rs1677107	0.82[AFR][1000 genomes]
rs1677109	0.92[AFR][1000 genomes]
rs1677110	0.92[AFR][1000 genomes]
rs1677111	0.92[AFR][1000 genomes]
rs1677125	0.92[AFR][1000 genomes]
rs1677126	0.92[AFR][1000 genomes]
rs1677127	0.92[AFR][1000 genomes]
rs1677131	0.92[AFR][1000 genomes]
rs1677132	0.92[AFR][1000 genomes]
rs1677133	0.92[AFR][1000 genomes]
rs1677138	0.92[AFR][1000 genomes]
rs2247376	0.92[AFR][1000 genomes]
rs255449	0.88[AFR][1000 genomes]
rs4237915	0.84[AFR][1000 genomes]
rs4337087	0.85[AFR][1000 genomes]
rs4762716	0.92[AFR][1000 genomes]
rs7135799	0.92[AFR][1000 genomes]
rs759932	0.92[AFR][1000 genomes]
rs759934	0.92[AFR][1000 genomes]
rs7953451	0.82[AFR][1000 genomes]
rs962947	0.92[AFR][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	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	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
4	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
5	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21781200-21809600	Weak transcription	Small Intestine	intestine
2	chr12:21782600-21805400	Weak transcription	Colonic Mucosa	Colon
3	chr12:21783800-21801600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:21785000-21801400	Strong transcription	Dnd41	blood
5	chr12:21785400-21805200	Strong transcription	GM12878-XiMat	blood
6	chr12:21785800-21807600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:21786200-21807000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:21786400-21807800	Strong transcription	Osteobl	bone
9	chr12:21786800-21805000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:21786800-21807400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:21787000-21801400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:21787000-21807000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:21787000-21807800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:21787000-21807800	Strong transcription	Primary hematopoietic stem cells	blood
15	chr12:21787200-21806800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr12:21787200-21807400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:21787200-21807600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:21787200-21808200	Strong transcription	NH-A	brain
19	chr12:21787200-21808600	Strong transcription	HMEC	breast
20	chr12:21787200-21808600	Strong transcription	HSMM	muscle
21	chr12:21787400-21803800	Strong transcription	HUVEC	blood vessel
22	chr12:21787800-21801800	Strong transcription	NHDF-Ad	bronchial
23	chr12:21788000-21809200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:21788600-21810000	Weak transcription	Liver	Liver
25	chr12:21788800-21801400	Weak transcription	Right Ventricle	heart
26	chr12:21788800-21803800	Weak transcription	Esophagus	oesophagus
27	chr12:21788800-21803800	Weak transcription	Pancreas	Pancrea
28	chr12:21790000-21808200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:21790200-21806000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:21791000-21807600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:21791600-21807600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:21791800-21809400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:21792000-21807200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:21792400-21807200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:21793200-21807800	Strong transcription	Fetal Thymus	thymus
36	chr12:21793400-21805600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:21793600-21803600	Genic enhancers	Primary T cells from cord blood	blood
38	chr12:21793600-21803800	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr12:21793600-21804000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:21793600-21804800	Strong transcription	Thymus	Thymus
41	chr12:21793600-21805600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:21793600-21806200	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr12:21793600-21808000	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:21793800-21801800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:21794000-21803600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr12:21796000-21803800	Weak transcription	Aorta	Aorta
47	chr12:21796400-21802000	Strong transcription	Fetal Lung	lung
48	chr12:21796400-21805600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:21796600-21803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:21796600-21807800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links