Variant report

Variant	rs12744045
Chromosome Location	chr1:151302647-151302648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr1:151302469-151302767	MCF-7	breast:	n/a	n/a
2	NR2F2	chr1:151302403-151302929	MCF-7	breast:	n/a	n/a
3	GATA3	chr1:151302396-151302945	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:151301250..151305545-chr1:151316595..151320158,5	K562	blood:
2	chr1:151298559..151302678-chr1:151316998..151321426,11	MCF-7	breast:
3	chr1:151298009..151300052-chr1:151301088..151302709,2	K562	blood:
4	chr1:151302296..151304769-chr1:151317864..151319578,2	K562	blood:
5	chr1:151300496..151303046-chr1:151306152..151309481,3	K562	blood:
6	chr1:151299980..151303180-chr1:151310152..151314785,6	MCF-7	breast:

No data

Variant related genes	Relation type
PI4KB	TF binding region
ENSG00000143390	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000224645	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1115	1.00[LWK][hapmap]
rs11581703	1.00[LWK][hapmap]
rs12042270	1.00[LWK][hapmap]
rs12138655	1.00[LWK][hapmap]
rs12142028	1.00[LWK][hapmap]
rs12727567	1.00[LWK][hapmap]
rs2233851	1.00[LWK][hapmap]

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	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151301000-151303400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:151301000-151315000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:151301200-151313000	Weak transcription	Fetal Thymus	thymus
4	chr1:151301200-151313200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:151301200-151313200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:151301200-151313200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:151301200-151314000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:151301200-151314000	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:151301200-151314800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:151301200-151314800	Weak transcription	Gastric	stomach
11	chr1:151301200-151315200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:151301200-151315600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:151301200-151318200	Weak transcription	Right Atrium	heart
14	chr1:151301400-151312400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:151301400-151312800	Weak transcription	Primary B cells from cord blood	blood
16	chr1:151301400-151313000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:151301400-151313400	Weak transcription	Brain Angular Gyrus	brain
18	chr1:151301400-151314800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:151301400-151314800	Weak transcription	Fetal Stomach	stomach
20	chr1:151301400-151316000	Weak transcription	Fetal Kidney	kidney
21	chr1:151301600-151313000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:151301600-151313200	Weak transcription	Brain Anterior Caudate	brain
23	chr1:151302600-151302800	Enhancers	Skeletal Muscle Male	skeletal muscle

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