Variant report

Variant	rs12463327
Chromosome Location	chr19:45671937-45671938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45671459..45673607-chr19:45840219..45842348,2	MCF-7	breast:
2	chr19:45664265..45666960-chr19:45670245..45671965,2	K562	blood:
3	chr19:45663965..45672033-chr19:45672145..45675901,9	K562	blood:
4	chr19:45661836..45664476-chr19:45669992..45671964,2	K562	blood:
5	chr19:45665641..45668911-chr19:45670300..45671967,3	K562	blood:
6	chr19:45659656..45660364-chr19:45671813..45672348,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179846	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1048552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12459817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12460178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12461733	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12463298	0.83[AMR][1000 genomes]
rs57302271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57627123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58504789	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59215448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60460304	1.00[AMR][1000 genomes]
rs6509200	0.85[AFR][1000 genomes]
rs73564216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564218	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS 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 target site	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1795888	chr19:45650386-45681988	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1798099	chr19:45664218-45681988	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45660200-45674000	Weak transcription	A549	lung
2	chr19:45665400-45680400	Weak transcription	Brain Substantia Nigra	brain
3	chr19:45665400-45680600	Weak transcription	Fetal Lung	lung
4	chr19:45665600-45680400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:45665800-45674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:45665800-45680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:45665800-45680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:45667400-45681000	Weak transcription	Aorta	Aorta
9	chr19:45667600-45672000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr19:45668000-45674600	Weak transcription	HSMMtube	muscle
11	chr19:45668000-45680600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:45668200-45672800	Weak transcription	Ovary	ovary
13	chr19:45668200-45674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:45668200-45676000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:45668400-45672000	Weak transcription	Fetal Intestine Small	intestine
16	chr19:45668400-45673800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:45668400-45673800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:45668400-45673800	Weak transcription	Stomach Mucosa	stomach
19	chr19:45668400-45675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:45668400-45676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:45668400-45680400	Weak transcription	Fetal Intestine Large	intestine
22	chr19:45668400-45680600	Weak transcription	Colon Smooth Muscle	Colon
23	chr19:45668400-45680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:45668600-45672000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:45668600-45673400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:45668600-45673400	Weak transcription	Colonic Mucosa	Colon
27	chr19:45668600-45673400	Weak transcription	Pancreas	Pancrea
28	chr19:45668600-45673800	Weak transcription	Primary T cells from cord blood	blood
29	chr19:45668600-45673800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr19:45668600-45675600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:45668600-45679000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr19:45668800-45672000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:45668800-45672600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:45668800-45680400	Weak transcription	Brain Anterior Caudate	brain
35	chr19:45668800-45680400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr19:45669000-45672000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:45669000-45672000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr19:45669000-45672000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:45669000-45672200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:45669000-45673400	Weak transcription	Right Ventricle	heart
41	chr19:45669000-45674000	Weak transcription	GM12878-XiMat	blood
42	chr19:45669000-45674600	Weak transcription	Thymus	Thymus
43	chr19:45669000-45680200	Weak transcription	Fetal Brain Female	brain
44	chr19:45669200-45673000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr19:45669200-45673600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:45670000-45674000	Weak transcription	Primary B cells from cord blood	blood
47	chr19:45670200-45680200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:45670200-45680400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr19:45670400-45672000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:45670400-45672000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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