Variant report

Variant	rs4251429
Chromosome Location	chr12:44154407-44154408
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:44154326-44154484	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:44151310-44154756	K562	blood:	n/a	n/a
3	WRNIP1	chr12:44153737-44154518	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:44154379-44154633	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr12:44151582-44154464	GM12878	blood:	n/a	n/a
6	RCOR1	chr12:44154125-44154488	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:44152569..44154941-chr12:44238287..44240177,2	K562	blood:
2	chr12:44140065..44142425-chr12:44153099..44155188,2	MCF-7	breast:
3	chr12:44153831..44156325-chr12:44288014..44290828,2	MCF-7	breast:
4	chr12:44151837..44154416-chr12:44228878..44230533,2	MCF-7	breast:
5	chr12:44153544..44155237-chr12:44175086..44177097,2	K562	blood:
6	chr12:44151164..44154828-chr12:44196994..44201951,5	K562	blood:
7	chr12:44152520..44155217-chr12:44165560..44167602,2	K562	blood:

No data

Variant related genes	Relation type
PUS7L	TF binding region
ENSG00000198001	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000139173	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12302873	0.82[JPT][hapmap]
rs12305949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12315211	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs12318086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17093639	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs4251447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251527	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57291280	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7956245	1.00[CEU][hapmap]
rs9971859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9971895	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44149600-44156000	Active TSS	GM12878-XiMat	blood
2	chr12:44153200-44154600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:44153200-44154600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:44153200-44154800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr12:44153200-44154800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:44153400-44154600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr12:44153400-44154600	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr12:44153400-44154600	Enhancers	Fetal Brain Male	brain
9	chr12:44153400-44154600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:44153400-44155400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:44153400-44155400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:44153400-44155400	Flanking Active TSS	Dnd41	blood
13	chr12:44153400-44156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:44153600-44154600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:44153600-44154600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:44153600-44154600	Enhancers	Fetal Stomach	stomach
17	chr12:44153600-44154600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr12:44153600-44154600	Flanking Active TSS	Thymus	Thymus
19	chr12:44153600-44154600	Flanking Active TSS	NHEK	skin
20	chr12:44153600-44154800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:44153600-44154800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:44153600-44154800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:44153600-44154800	Flanking Active TSS	Osteobl	bone
24	chr12:44153600-44155800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr12:44153600-44156800	Enhancers	HUVEC	blood vessel
26	chr12:44153800-44154600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:44153800-44154600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:44153800-44154600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:44153800-44154600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:44153800-44154600	Enhancers	Lung	lung
31	chr12:44153800-44154600	Enhancers	Ovary	ovary
32	chr12:44153800-44154600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr12:44153800-44154600	Flanking Active TSS	HSMM	muscle
34	chr12:44153800-44154600	Flanking Active TSS	NHDF-Ad	bronchial
35	chr12:44153800-44154800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr12:44153800-44154800	Enhancers	Brain Substantia Nigra	brain
37	chr12:44153800-44154800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr12:44153800-44155000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr12:44153800-44155000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:44153800-44155200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:44153800-44155200	Enhancers	Fetal Intestine Large	intestine
42	chr12:44153800-44156600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:44153800-44174200	Weak transcription	Right Ventricle	heart
44	chr12:44154000-44154600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:44154000-44154600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:44154000-44154600	Enhancers	Brain Anterior Caudate	brain
47	chr12:44154000-44154600	Flanking Active TSS	Esophagus	oesophagus
48	chr12:44154000-44154600	Enhancers	Fetal Intestine Small	intestine
49	chr12:44154000-44154600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:44154000-44154800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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