Variant report

Variant	rs12117593
Chromosome Location	chr1:180533002-180533003
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180530082..180533605-chr1:180534162..180536876,3	K562	blood:
2	chr1:180530904..180533469-chr1:180554025..180555581,2	MCF-7	breast:
3	chr1:180511669..180514906-chr1:180530245..180533112,3	K562	blood:
4	chr1:180530731..180535452-chr1:180539258..180542430,4	K562	blood:
5	chr1:180529943..180534795-chr1:180578153..180581956,5	K562	blood:
6	chr1:180524921..180527683-chr1:180532658..180534394,2	MCF-7	breast:
7	chr1:180470665..180473008-chr1:180530633..180533066,2	MCF-7	breast:
8	chr1:180524735..180527713-chr1:180532458..180534651,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv947137	chr1:180531647-180537166	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
2	chr1:180525200-180534400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:180530000-180535000	Enhancers	Left Ventricle	heart
4	chr1:180530800-180535200	Weak transcription	Pancreas	Pancrea
5	chr1:180531400-180537400	Enhancers	Fetal Brain Male	brain
6	chr1:180531600-180535000	Enhancers	Fetal Heart	heart
7	chr1:180531800-180534400	Weak transcription	Right Atrium	heart
8	chr1:180531800-180534400	Weak transcription	Right Ventricle	heart
9	chr1:180532400-180534800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:180532600-180534400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:180532600-180534600	Weak transcription	HUVEC	blood vessel
12	chr1:180532600-180536600	Enhancers	Fetal Brain Female	brain
13	chr1:180532600-180537000	Weak transcription	Aorta	Aorta
14	chr1:180532600-180539800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:180532600-180540400	Weak transcription	A549	lung
16	chr1:180532800-180534600	Weak transcription	HepG2	liver
17	chr1:180532800-180535000	Weak transcription	HSMMtube	muscle
18	chr1:180532800-180536400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:180532800-180539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:180532800-180539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:180532800-180539600	Weak transcription	HMEC	breast
22	chr1:180533000-180534000	Enhancers	K562	blood
23	chr1:180533000-180536000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:180533000-180536800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:180533000-180538600	Weak transcription	Osteobl	bone

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