Variant report

Variant	rs728129
Chromosome Location	chr12:40405478-40405479
allele	C/T
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
ENSG00000188906	Chromatin interaction
ENSG00000205592	Chromatin interaction
ENSG00000223082	Chromatin interaction
ENSG00000151229	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10878035	0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs11175023	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs11564198	0.84[ASN][1000 genomes]
rs12322131	0.93[JPT][hapmap]
rs2404347	0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs4611275	0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs7974495	0.92[JPT][hapmap];0.80[ASN][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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394000-40410800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:40402200-40425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:40404600-40405800	Enhancers	Brain Germinal Matrix	brain
5	chr12:40404800-40405600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:40404800-40405800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:40404800-40405800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:40405000-40405600	Flanking Active TSS	A549	lung
9	chr12:40405000-40405800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:40405000-40406000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:40405200-40405600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:40405200-40405600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:40405200-40405600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:40405200-40405600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:40405200-40405600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:40405200-40405600	Active TSS	Primary hematopoietic stem cells	blood
17	chr12:40405200-40405600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:40405200-40405600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:40405200-40405600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:40405200-40405600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:40405200-40405600	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr12:40405200-40405600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:40405200-40405600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:40405200-40405600	Active TSS	Aorta	Aorta
25	chr12:40405200-40405600	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr12:40405200-40405600	Active TSS	Brain Cingulate Gyrus	brain
27	chr12:40405200-40405600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:40405200-40405600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:40405200-40405600	Enhancers	Fetal Intestine Small	intestine
30	chr12:40405200-40405600	Enhancers	Fetal Lung	lung
31	chr12:40405200-40405600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr12:40405200-40405600	Flanking Active TSS	Hela-S3	cervix
33	chr12:40405200-40405600	Flanking Active TSS	NHDF-Ad	bronchial
34	chr12:40405200-40405800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:40405200-40405800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:40405200-40405800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr12:40405200-40405800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr12:40405200-40405800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:40405200-40405800	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr12:40405200-40405800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:40405200-40405800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:40405200-40405800	Active TSS	Adipose Nuclei	Adipose
43	chr12:40405200-40405800	Flanking Active TSS	Liver	Liver
44	chr12:40405200-40405800	Active TSS	Brain Anterior Caudate	brain
45	chr12:40405200-40405800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr12:40405200-40406600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:40405200-40407200	Enhancers	Fetal Heart	heart
48	chr12:40405200-40408600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr12:40405400-40405600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:40405400-40405600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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