Variant report

Variant	rs1650288
Chromosome Location	chr12:21790893-21790894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr12:21790753-21791929	PBDE	blood:	n/a	chr12:21791143-21791159 chr12:21791156-21791177

Variant related genes	Relation type
LDHB	TF binding region

Extended variants
information (count: 176 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs1012354	1.00[EUR][1000 genomes]
rs1030452	1.00[EUR][1000 genomes]
rs1030453	1.00[EUR][1000 genomes]
rs1072992	1.00[EUR][1000 genomes]
rs1072993	1.00[EUR][1000 genomes]
rs10841863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10841864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10841865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10841866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829561	1.00[EUR][1000 genomes]
rs11835091	1.00[EUR][1000 genomes]
rs1427830	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1478293	1.00[EUR][1000 genomes]
rs1540405	1.00[EUR][1000 genomes]
rs1614040	1.00[EUR][1000 genomes]
rs1616390	1.00[EUR][1000 genomes]
rs1624003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1626167	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1626303	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1629683	1.00[EUR][1000 genomes]
rs1630514	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650272	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1650277	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650279	0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650280	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650282	1.00[EUR][1000 genomes]
rs1650283	0.82[AFR][1000 genomes]
rs1650284	0.88[AFR][1000 genomes]
rs1650285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650286	1.00[EUR][1000 genomes]
rs1650287	1.00[EUR][1000 genomes]
rs1650289	1.00[EUR][1000 genomes]
rs1650290	1.00[EUR][1000 genomes]
rs1650291	1.00[EUR][1000 genomes]
rs1650292	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1650293	1.00[EUR][1000 genomes]
rs1650294	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1650295	1.00[EUR][1000 genomes]
rs1650297	1.00[EUR][1000 genomes]
rs1650300	1.00[EUR][1000 genomes]
rs1650301	1.00[EUR][1000 genomes]
rs1650305	1.00[EUR][1000 genomes]
rs1650306	1.00[EUR][1000 genomes]
rs1650310	1.00[EUR][1000 genomes]
rs1650312	1.00[EUR][1000 genomes]
rs1650314	1.00[EUR][1000 genomes]
rs1650315	1.00[EUR][1000 genomes]
rs1650318	1.00[EUR][1000 genomes]
rs1677073	1.00[EUR][1000 genomes]
rs1677074	1.00[EUR][1000 genomes]
rs1677078	1.00[EUR][1000 genomes]
rs1677079	1.00[EUR][1000 genomes]
rs1677080	0.82[YRI][hapmap]
rs1677085	1.00[EUR][1000 genomes]
rs1677088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677090	0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1677092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677093	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677094	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677095	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677104	1.00[EUR][1000 genomes]
rs1677105	1.00[EUR][1000 genomes]
rs1677106	1.00[EUR][1000 genomes]
rs1677107	1.00[EUR][1000 genomes]
rs1677109	1.00[EUR][1000 genomes]
rs1677110	1.00[EUR][1000 genomes]
rs1677111	1.00[EUR][1000 genomes]
rs1677113	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1677118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677124	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1677125	1.00[EUR][1000 genomes]
rs1677126	1.00[EUR][1000 genomes]
rs1677127	1.00[EUR][1000 genomes]
rs1677128	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677129	0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs1677131	1.00[EUR][1000 genomes]
rs1677132	1.00[EUR][1000 genomes]
rs1677133	1.00[EUR][1000 genomes]
rs1677135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677138	1.00[EUR][1000 genomes]
rs1677139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677140	0.87[AFR][1000 genomes]
rs1677141	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1813751	1.00[EUR][1000 genomes]
rs2077044	1.00[EUR][1000 genomes]
rs2217238	1.00[EUR][1000 genomes]
rs255445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs255449	1.00[EUR][1000 genomes]
rs255452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2559823	0.95[AFR][1000 genomes]
rs2617117	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2617118	0.98[AFR][1000 genomes]
rs4237915	1.00[EUR][1000 genomes]
rs4438091	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4762714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4762716	1.00[EUR][1000 genomes]
rs4762856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4762858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4762859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4762862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56013787	1.00[EUR][1000 genomes]
rs56035640	1.00[EUR][1000 genomes]
rs56066637	1.00[EUR][1000 genomes]
rs56160727	1.00[EUR][1000 genomes]
rs56271252	1.00[EUR][1000 genomes]
rs56729740	1.00[EUR][1000 genomes]
rs56871137	1.00[EUR][1000 genomes]
rs56994698	1.00[EUR][1000 genomes]
rs57115374	1.00[EUR][1000 genomes]
rs57200111	1.00[EUR][1000 genomes]
rs57338327	1.00[EUR][1000 genomes]
rs57842305	1.00[EUR][1000 genomes]
rs58465040	1.00[EUR][1000 genomes]
rs58527132	1.00[EUR][1000 genomes]
rs59247664	1.00[EUR][1000 genomes]
rs59468844	1.00[EUR][1000 genomes]
rs59541120	1.00[EUR][1000 genomes]
rs60486179	1.00[EUR][1000 genomes]
rs60632805	1.00[EUR][1000 genomes]
rs60652753	1.00[EUR][1000 genomes]
rs61187969	1.00[EUR][1000 genomes]
rs61410104	0.87[AFR][1000 genomes]
rs61482461	1.00[EUR][1000 genomes]
rs7135799	1.00[EUR][1000 genomes]
rs7299671	0.87[AFR][1000 genomes]
rs7299674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73249228	1.00[EUR][1000 genomes]
rs73249231	1.00[EUR][1000 genomes]
rs73249234	1.00[EUR][1000 genomes]
rs73249241	1.00[EUR][1000 genomes]
rs73249265	1.00[EUR][1000 genomes]
rs73249266	1.00[EUR][1000 genomes]
rs73249268	1.00[EUR][1000 genomes]
rs73249276	1.00[EUR][1000 genomes]
rs73249282	1.00[EUR][1000 genomes]
rs73262386	1.00[EUR][1000 genomes]
rs736047	1.00[EUR][1000 genomes]
rs74066770	1.00[EUR][1000 genomes]
rs74067628	1.00[EUR][1000 genomes]
rs74069327	1.00[EUR][1000 genomes]
rs74069332	1.00[EUR][1000 genomes]
rs74069333	1.00[EUR][1000 genomes]
rs74069343	1.00[EUR][1000 genomes]
rs74069345	1.00[EUR][1000 genomes]
rs74069349	1.00[EUR][1000 genomes]
rs74069350	1.00[EUR][1000 genomes]
rs74069351	1.00[EUR][1000 genomes]
rs74069352	1.00[EUR][1000 genomes]
rs74069353	1.00[EUR][1000 genomes]
rs74069354	1.00[EUR][1000 genomes]
rs74069355	1.00[EUR][1000 genomes]
rs74069356	1.00[EUR][1000 genomes]
rs74069357	1.00[EUR][1000 genomes]
rs74069362	1.00[EUR][1000 genomes]
rs74069363	1.00[EUR][1000 genomes]
rs759931	1.00[EUR][1000 genomes]
rs759932	1.00[EUR][1000 genomes]
rs759933	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs759934	1.00[EUR][1000 genomes]
rs7974267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs962947	1.00[EUR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21781200-21796400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:21781200-21809600	Weak transcription	Small Intestine	intestine
3	chr12:21782200-21791000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:21782600-21805400	Weak transcription	Colonic Mucosa	Colon
5	chr12:21783800-21801600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:21784000-21791000	Weak transcription	Fetal Brain Male	brain
7	chr12:21784600-21792400	Strong transcription	Fetal Thymus	thymus
8	chr12:21785000-21801400	Strong transcription	Dnd41	blood
9	chr12:21785200-21793600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:21785200-21798600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:21785400-21791000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:21785400-21793600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:21785400-21797600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:21785400-21805200	Strong transcription	GM12878-XiMat	blood
15	chr12:21785600-21794800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr12:21785800-21791000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:21785800-21797000	Strong transcription	Primary B cells from cord blood	blood
18	chr12:21785800-21797200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:21785800-21807600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:21786000-21791400	Strong transcription	Fetal Brain Female	brain
21	chr12:21786000-21793600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:21786000-21793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:21786000-21796200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:21786200-21791000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:21786200-21791400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:21786200-21791800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:21786200-21792000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:21786200-21797600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:21786200-21807000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:21786400-21795600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:21786400-21796600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:21786400-21807800	Strong transcription	Osteobl	bone
33	chr12:21786600-21791000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:21786600-21792200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:21786800-21791200	Strong transcription	Adipose Nuclei	Adipose
36	chr12:21786800-21791800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:21786800-21799200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:21786800-21805000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:21786800-21807400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:21787000-21791000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr12:21787000-21795600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:21787000-21801400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:21787000-21807000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:21787000-21807800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:21787000-21807800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr12:21787200-21791200	Strong transcription	Fetal Intestine Large	intestine
47	chr12:21787200-21791200	Strong transcription	Fetal Kidney	kidney
48	chr12:21787200-21791200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:21787200-21791400	Strong transcription	Fetal Lung	lung
50	chr12:21787200-21791800	Strong transcription	Muscle Satellite Cultured Cells	--

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