Variant report

Variant	rs578572
Chromosome Location	chr12:40405304-40405305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:40404779..40405544-chr12:40501079..40501769,2	K562	blood:
2	chr12:40200606..40201630-chr12:40404872..40405807,3	MCF-7	breast:
3	12:40402537-40410050..12:40703633-40711447	GM12878	blood:
4	chr12:40404217..40405558-chr12:40500388..40503110,15	MCF-7	breast:
5	12:40402537-40410050..12:40497414-40501128	K562	blood:
6	12:40402537-40410050..12:40687302-40691796	GM12878	blood:
7	chr12:40399921..40402831-chr12:40405268..40407402,2	MCF-7	breast:
8	12:40402537-40410050..12:40793507-40812339	GM12878	blood:
9	chr12:40158566..40159336-chr12:40404675..40405547,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151229	Chromatin interaction
ENSG00000188906	Chromatin interaction
ENSG00000223082	Chromatin interaction
ENSG00000205592	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1086487	1.00[AFR][1000 genomes]
rs2624245	1.00[AFR][1000 genomes]
rs2624247	1.00[AFR][1000 genomes]
rs2624248	1.00[AFR][1000 genomes]
rs2708413	1.00[AFR][1000 genomes]
rs2708434	1.00[AFR][1000 genomes]
rs2708448	1.00[AFR][1000 genomes]
rs2708452	1.00[AFR][1000 genomes]
rs2708459	1.00[AFR][1000 genomes]
rs476592	1.00[AFR][1000 genomes]
rs478527	1.00[AFR][1000 genomes]
rs489044	1.00[AFR][1000 genomes]
rs511097	1.00[AFR][1000 genomes]
rs518159	1.00[AFR][1000 genomes]
rs522895	1.00[AFR][1000 genomes]
rs525931	1.00[AFR][1000 genomes]
rs530071	1.00[AFR][1000 genomes]
rs545434	1.00[AFR][1000 genomes]
rs546083	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv899027	chr12:40388510-40428561	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40384400-40405400	Weak transcription	Pancreas	Pancrea
2	chr12:40393400-40405400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:40394000-40405400	Weak transcription	Left Ventricle	heart
4	chr12:40394000-40410800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:40395200-40405400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:40402200-40425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:40404600-40405800	Enhancers	Brain Germinal Matrix	brain
9	chr12:40404800-40405400	Active TSS	Dnd41	blood
10	chr12:40404800-40405600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:40404800-40405800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:40404800-40405800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:40405000-40405400	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr12:40405000-40405400	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:40405000-40405600	Flanking Active TSS	A549	lung
16	chr12:40405000-40405800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:40405000-40406000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:40405200-40405400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:40405200-40405400	Enhancers	Primary T cells from cord blood	blood
20	chr12:40405200-40405400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:40405200-40405400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr12:40405200-40405400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:40405200-40405400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:40405200-40405400	Active TSS	Muscle Satellite Cultured Cells	--
25	chr12:40405200-40405400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:40405200-40405400	Active TSS	Brain Hippocampus Middle	brain
27	chr12:40405200-40405400	Active TSS	Colonic Mucosa	Colon
28	chr12:40405200-40405400	Active TSS	Colon Smooth Muscle	Colon
29	chr12:40405200-40405400	Active TSS	Duodenum Mucosa	Duodenum
30	chr12:40405200-40405400	Active TSS	Rectal Smooth Muscle	rectum
31	chr12:40405200-40405400	Active TSS	Right Atrium	heart
32	chr12:40405200-40405400	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr12:40405200-40405400	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr12:40405200-40405400	Active TSS	GM12878-XiMat	blood
35	chr12:40405200-40405400	Active TSS	HUVEC	blood vessel
36	chr12:40405200-40405400	Enhancers	K562	blood
37	chr12:40405200-40405400	Active TSS	NHLF	lung
38	chr12:40405200-40405400	Active TSS	Osteobl	bone
39	chr12:40405200-40405600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:40405200-40405600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr12:40405200-40405600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:40405200-40405600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:40405200-40405600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:40405200-40405600	Active TSS	Primary hematopoietic stem cells	blood
45	chr12:40405200-40405600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:40405200-40405600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:40405200-40405600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:40405200-40405600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr12:40405200-40405600	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr12:40405200-40405600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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