Variant report

Variant	rs533861271
Chromosome Location	chr2:20653050-20653051
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
2	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
3	chr2:20651129..20653256-chr2:20748051..20749784,2	MCF-7	breast:
4	chr2:20550628..20552430-chr2:20652675..20654325,2	MCF-7	breast:
5	chr2:20652225..20654236-chr2:20656975..20659900,2	K562	blood:
6	chr2:20651875..20654191-chr2:20757660..20759690,2	MCF-7	breast:
7	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOB-1	chr2:20651697-20654380	NONHSAT069442

No data

Variant related genes	Relation type
ENSG00000231948	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455830	chr2:20621404-20659862	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv581166	chr2:20621404-20659862	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv873720	chr2:20645835-20756900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
8	nsv873721	chr2:20645835-20759789	Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv873722	chr2:20652507-20705910	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20650400-20653200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:20650600-20653200	Enhancers	Colon Smooth Muscle	Colon
3	chr2:20650800-20656000	Weak transcription	NHLF	lung
4	chr2:20650800-20659000	Weak transcription	Pancreas	Pancrea
5	chr2:20651000-20653200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:20651000-20655000	Weak transcription	Fetal Brain Female	brain
7	chr2:20651200-20653400	Enhancers	Brain Angular Gyrus	brain
8	chr2:20651200-20654200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:20651200-20655800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:20651200-20656000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:20651200-20656000	Weak transcription	NH-A	brain
12	chr2:20651400-20653400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:20651400-20653400	Enhancers	Brain Substantia Nigra	brain
14	chr2:20651400-20655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:20651400-20655800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:20651400-20656000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:20651400-20656000	Weak transcription	NHDF-Ad	bronchial
18	chr2:20651400-20656600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:20651600-20653200	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:20651600-20656200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:20651600-20656600	Weak transcription	HSMM	muscle
22	chr2:20652200-20653400	Enhancers	Brain Hippocampus Middle	brain
23	chr2:20652200-20655000	Weak transcription	Psoas Muscle	Psoas
24	chr2:20652200-20655400	Weak transcription	Right Atrium	heart
25	chr2:20652200-20655800	Weak transcription	Aorta	Aorta
26	chr2:20652400-20657000	Weak transcription	Osteobl	bone
27	chr2:20652600-20655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:20652600-20655000	Weak transcription	Esophagus	oesophagus
29	chr2:20652600-20655800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:20652800-20655800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:20652800-20656000	Weak transcription	HepG2	liver
32	chr2:20653000-20653200	Enhancers	Brain Anterior Caudate	brain
33	chr2:20653000-20654800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:20653000-20655000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:20653000-20657600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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