Variant report

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55945407..55945989-chr2:56188428..56188986,2	MCF-7	breast:
2	chr2:55944515..55947437-chr2:56188349..56191143,2	MCF-7	breast:
3	chr2:56150165..56151052-chr2:56188223..56189072,3	MCF-7	breast:
4	chr2:55945011..55946407-chr2:56188187..56189117,5	K562	blood:
5	chr2:55998494..55999415-chr2:56188226..56189063,2	MCF-7	breast:
6	chr2:55998660..55999310-chr2:56188089..56189086,3	K562	blood:
7	chr2:55958747..55960432-chr2:56187012..56189326,2	K562	blood:
8	chr12:2903788..2906211-chr2:56187891..56190669,2	MCF-7	breast:
9	chr2:56187210..56190071-chr2:56191391..56193290,2	K562	blood:
10	chr2:56149371..56151100-chr2:56187829..56189531,2	MCF-7	breast:
11	chr2:55998188..55999614-chr2:56188128..56189121,13	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFEMP1-1	chr2:56186575-56191017	NONHSAT070812

No data

Variant related genes	Relation type
ENSG00000004478	Chromatin interaction
ENSG00000115380	Chromatin interaction

rSNPs within LD-proxies of this variant (count:9)

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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56180000-56188800	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:56186400-56193200	Weak transcription	NH-A	brain
3	chr2:56186600-56189000	Weak transcription	HSMMtube	muscle
4	chr2:56187800-56189200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:56188000-56188800	Enhancers	Fetal Lung	lung
6	chr2:56188000-56189800	Enhancers	HUVEC	blood vessel
7	chr2:56188000-56190800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:56188200-56188600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:56188200-56189200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:56188200-56189200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:56188200-56189200	Enhancers	A549	lung
12	chr2:56188400-56188600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:56188400-56188600	Enhancers	Adipose Nuclei	Adipose
14	chr2:56188400-56188600	Enhancers	Hela-S3	cervix
15	chr2:56188400-56188600	Enhancers	NHEK	skin
16	chr2:56188400-56189000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:56188400-56189000	Enhancers	HMEC	breast
18	chr2:56188400-56189000	Enhancers	HSMM	muscle
19	chr2:56188400-56189200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:56188400-56189200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:56188400-56189200	Enhancers	Osteobl	bone

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