Variant report

Variant	rs554008348
Chromosome Location	chr2:46637330-46637331
allele	-/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46548590..46550903-chr2:46636031..46638044,2	MCF-7	breast:
2	chr2:46602852..46605080-chr2:46635870..46638322,2	MCF-7	breast:
3	chr2:46599672..46601854-chr2:46635973..46638690,2	K562	blood:
4	chr2:46635461..46637911-chr2:46643463..46645428,2	MCF-7	breast:
5	chr2:46524294..46526928-chr2:46635317..46637787,2	MCF-7	breast:
6	chr2:46636493..46638557-chr2:46644102..46646935,2	MCF-7	breast:
7	chr2:46636115..46638908-chr2:46687157..46689113,2	MCF-7	breast:
8	chr2:46634878..46637734-chr2:46638527..46641360,4	MCF-7	breast:
9	chr2:46634475..46637528-chr2:46648902..46652538,3	K562	blood:
10	chr2:46631504..46633445-chr2:46635398..46638031,3	K562	blood:
11	chr2:46629599..46631246-chr2:46635810..46637676,2	MCF-7	breast:
12	chr2:46634737..46637528-chr2:46648902..46651516,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116016	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv457330	chr2:46637081-46660752	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv581744	chr2:46637081-46660752	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
2	chr2:46630600-46638600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:46631200-46639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:46633600-46639000	Enhancers	Esophagus	oesophagus
5	chr2:46633800-46637800	Enhancers	Pancreas	Pancrea
6	chr2:46633800-46638800	Enhancers	Stomach Mucosa	stomach
7	chr2:46633800-46642000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:46634600-46639400	Enhancers	HMEC	breast
9	chr2:46634800-46637800	Weak transcription	Gastric	stomach
10	chr2:46634800-46641800	Weak transcription	Spleen	Spleen
11	chr2:46635200-46637400	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:46635400-46639400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:46635600-46637600	Enhancers	Liver	Liver
14	chr2:46635800-46637600	Enhancers	Adipose Nuclei	Adipose
15	chr2:46635800-46637800	Enhancers	NHEK	skin
16	chr2:46636000-46637800	Enhancers	Right Ventricle	heart
17	chr2:46636000-46639400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:46636200-46637600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:46636200-46638200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:46636800-46637400	Enhancers	A549	lung
21	chr2:46636800-46637800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:46636800-46637800	Enhancers	Left Ventricle	heart
23	chr2:46636800-46640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:46636800-46646200	Weak transcription	K562	blood
25	chr2:46637000-46638200	Genic enhancers	Placenta	Placenta
26	chr2:46637000-46638400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:46637200-46639400	Enhancers	Hela-S3	cervix
28	chr2:46637200-46642600	Enhancers	HepG2	liver

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