Variant report

Variant	rs10744546
Chromosome Location	chr12:1773628-1773629
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1771146..1773921-chr12:1806258..1810268,3	K562	blood:
2	chr12:1768367..1774746-chr12:1797764..1801789,11	MCF-7	breast:
3	chr12:1769414..1772325-chr12:1772901..1775575,3	MCF-7	breast:
4	chr12:1772017..1774771-chr12:1791247..1793999,2	K562	blood:
5	chr12:1770529..1774414-chr12:1775801..1779567,5	K562	blood:
6	chr12:1772246..1773869-chr12:1801718..1803350,2	MCF-7	breast:
7	chr12:1769488..1776078-chr12:1798561..1806450,20	K562	blood:

Variant related genes	Relation type
ENSG00000266043	Chromatin interaction
ENSG00000006831	Chromatin interaction
ENSG00000271500	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10848544	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11608644	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11609557	0.90[EUR][1000 genomes]
rs2041059	0.87[AFR][1000 genomes]
rs4765837	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4766411	0.80[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	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr12:1770000-1774000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:1770200-1774400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:1771000-1775400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:1771400-1774000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:1771400-1774000	Weak transcription	Primary T cells from cord blood	blood
6	chr12:1771400-1774000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:1771400-1774000	Weak transcription	Hela-S3	cervix
8	chr12:1771400-1774200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:1771400-1774200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:1771400-1774200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:1771400-1775200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:1771400-1775800	Weak transcription	Brain Angular Gyrus	brain
13	chr12:1771400-1775800	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:1771400-1775800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:1771400-1776000	Weak transcription	Brain Anterior Caudate	brain
16	chr12:1771400-1776000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:1771400-1777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:1771400-1777800	Weak transcription	GM12878-XiMat	blood
19	chr12:1771600-1773800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:1771600-1774200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:1771600-1774200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:1771600-1774200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:1771600-1774400	Weak transcription	Thymus	Thymus
24	chr12:1771600-1775400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:1771600-1775400	Weak transcription	Dnd41	blood
26	chr12:1771600-1776000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:1771600-1776000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:1771600-1776000	Weak transcription	Ovary	ovary
29	chr12:1771600-1778000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:1772200-1774800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:1772200-1776200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:1772200-1778000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:1772400-1774000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:1772400-1774200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:1772400-1774200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:1772400-1774200	Weak transcription	Liver	Liver
37	chr12:1772400-1775600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:1772400-1775600	Weak transcription	Primary B cells from cord blood	blood
39	chr12:1772400-1775800	Weak transcription	Fetal Brain Female	brain
40	chr12:1772400-1776000	Weak transcription	Fetal Brain Male	brain
41	chr12:1772400-1776200	Weak transcription	Colonic Mucosa	Colon
42	chr12:1772600-1774200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:1772600-1774200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:1772600-1775600	Weak transcription	Fetal Heart	heart
45	chr12:1772600-1776000	Weak transcription	Pancreas	Pancrea
46	chr12:1772600-1776200	Weak transcription	Left Ventricle	heart
47	chr12:1772600-1776200	Weak transcription	Right Atrium	heart
48	chr12:1772600-1778200	Weak transcription	Lung	lung
49	chr12:1772800-1774000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:1772800-1774000	Weak transcription	Fetal Intestine Large	intestine

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