Variant report

Variant	rs74066772
Chromosome Location	chr12:21790657-21790658
allele	A/G
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	POLR2A	chr12:21790157-21790692	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr12:21790406-21790737	K562	blood:	n/a	n/a

Variant related genes	Relation type
LDHB	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs55794995	0.86[AFR][1000 genomes]
rs55812798	1.00[AFR][1000 genomes]
rs55839871	1.00[AFR][1000 genomes]
rs56172202	1.00[AFR][1000 genomes]
rs56224342	1.00[AFR][1000 genomes]
rs57232038	1.00[AFR][1000 genomes]
rs57749821	1.00[AFR][1000 genomes]
rs58679435	1.00[AFR][1000 genomes]
rs59266655	0.86[AFR][1000 genomes]
rs59824507	1.00[AFR][1000 genomes]
rs74066740	1.00[AFR][1000 genomes]
rs74066764	1.00[AFR][1000 genomes]
rs74066768	1.00[AFR][1000 genomes]
rs74066775	1.00[AFR][1000 genomes]
rs74066794	1.00[AFR][1000 genomes]
rs74066795	1.00[AFR][1000 genomes]
rs74067605	1.00[AFR][1000 genomes]
rs74067613	1.00[AFR][1000 genomes]
rs74067615	1.00[AFR][1000 genomes]
rs74067617	1.00[AFR][1000 genomes]
rs74067618	1.00[AFR][1000 genomes]
rs74067619	1.00[AFR][1000 genomes]
rs74067620	1.00[AFR][1000 genomes]
rs74067622	1.00[AFR][1000 genomes]
rs74067623	1.00[AFR][1000 genomes]
rs74067624	1.00[AFR][1000 genomes]
rs74067627	1.00[AFR][1000 genomes]
rs74067629	1.00[AFR][1000 genomes]
rs74067644	1.00[AFR][1000 genomes]
rs74067645	1.00[AFR][1000 genomes]
rs74067646	1.00[AFR][1000 genomes]
rs74067649	1.00[AFR][1000 genomes]
rs74067651	1.00[AFR][1000 genomes]
rs74067652	1.00[AFR][1000 genomes]
rs74067653	1.00[AFR][1000 genomes]
rs74067654	1.00[AFR][1000 genomes]
rs74067657	1.00[AFR][1000 genomes]
rs74067658	1.00[AFR][1000 genomes]
rs74067680	1.00[AFR][1000 genomes]
rs74069162	0.86[AFR][1000 genomes]
rs74069171	0.86[AFR][1000 genomes]
rs74069308	1.00[AFR][1000 genomes]
rs74069309	1.00[AFR][1000 genomes]
rs74069310	1.00[AFR][1000 genomes]
rs74069324	1.00[AFR][1000 genomes]
rs74069330	0.86[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: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	chr12:21786800-21790800	Strong transcription	NHEK	skin
36	chr12:21786800-21791200	Strong transcription	Adipose Nuclei	Adipose
37	chr12:21786800-21791800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:21786800-21799200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:21786800-21805000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:21786800-21807400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:21787000-21791000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:21787000-21795600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:21787000-21801400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:21787000-21807000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:21787000-21807800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:21787000-21807800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr12:21787200-21790800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:21787200-21791200	Strong transcription	Fetal Intestine Large	intestine
49	chr12:21787200-21791200	Strong transcription	Fetal Kidney	kidney
50	chr12:21787200-21791200	Strong transcription	Stomach Smooth Muscle	stomach

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