Variant report

Variant	rs114613486
Chromosome Location	chr12:123888878-123888879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123874129..123877186-chr12:123887527..123889148,3	MCF-7	breast:
2	chr12:123881479..123883562-chr12:123887318..123890802,3	MCF-7	breast:
3	chr12:123873871..123875474-chr12:123888257..123890941,2	K562	blood:
4	chr12:123878393..123880843-chr12:123888077..123890359,3	MCF-7	breast:
5	chr12:123873393..123875666-chr12:123886945..123889757,3	K562	blood:

Variant related genes	Relation type
ENSG00000183955	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv899579	chr12:123843017-123901480	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv975550	chr12:123888322-123893712	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv975551	chr12:123888322-123897046	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123875200-123894400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123875600-123894200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:123875600-123895600	Strong transcription	Fetal Thymus	thymus
4	chr12:123875800-123894000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:123876400-123894800	Strong transcription	Fetal Intestine Small	intestine
6	chr12:123876600-123894800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:123877400-123889000	Weak transcription	Fetal Heart	heart
8	chr12:123877400-123895600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:123881600-123889000	Weak transcription	Fetal Brain Male	brain
10	chr12:123881800-123889000	Weak transcription	Fetal Kidney	kidney
11	chr12:123882000-123911600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:123883200-123895400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:123883800-123894200	Strong transcription	HUVEC	blood vessel
14	chr12:123883800-123895200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:123884200-123892800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:123884200-123895200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:123886000-123895200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:123886000-123895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:123886200-123892000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:123886200-123892000	Strong transcription	Primary T cells from cord blood	blood
21	chr12:123886200-123894200	Strong transcription	Fetal Intestine Large	intestine
22	chr12:123886200-123894800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:123886200-123895200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:123886200-123895200	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:123886200-123895200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:123886200-123895200	Strong transcription	Dnd41	blood
27	chr12:123886200-123895400	Strong transcription	Fetal Brain Female	brain
28	chr12:123886400-123889200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:123886400-123889200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:123886400-123890200	Strong transcription	Placenta	Placenta
31	chr12:123886400-123891000	Strong transcription	Hela-S3	cervix
32	chr12:123886400-123892200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:123886400-123892200	Strong transcription	Brain Germinal Matrix	brain
34	chr12:123886400-123892400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:123886400-123893400	Strong transcription	Rectal Smooth Muscle	rectum
36	chr12:123886400-123894200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:123886400-123894200	Strong transcription	Left Ventricle	heart
38	chr12:123886400-123894200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr12:123886400-123894400	Strong transcription	Osteobl	bone
40	chr12:123886400-123894800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:123886400-123895000	Strong transcription	Adipose Nuclei	Adipose
42	chr12:123886400-123895000	Strong transcription	Liver	Liver
43	chr12:123886400-123895200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:123886400-123895200	Strong transcription	Spleen	Spleen
45	chr12:123886400-123895200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr12:123886400-123895200	Strong transcription	NHLF	lung
47	chr12:123886400-123895400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:123886400-123895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:123886400-123895400	Strong transcription	Thymus	Thymus
50	chr12:123886600-123889000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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