Variant report

Variant	rs553951191
Chromosome Location	chr2:189845230-189845231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189843846..189845833-chr2:189848371..189850816,2	K562	blood:
2	chr2:189460620..189463074-chr2:189843714..189846986,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459992	chr2:189796272-189855943	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv584057	chr2:189796272-189855943	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875609	chr2:189796272-189862097	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv584058	chr2:189799499-189855943	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	esv1791841	chr2:189811074-189864582	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv584059	chr2:189841052-189868381	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv875612	chr2:189841052-189878769	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	esv3418829	chr2:189843907-189847705	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv584060	chr2:189844000-189876138	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv584061	chr2:189844000-189878769	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	esv2203663	chr2:189844916-189845383	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3352815	chr2:189844980-189845243	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3497142	chr2:189845034-189845236	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3497143	chr2:189845034-189845236	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189838200-189846000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:189838200-189849400	Active TSS	Fetal Muscle Leg	muscle
3	chr2:189839400-189858000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:189841400-189864000	Weak transcription	Left Ventricle	heart
5	chr2:189841800-189875200	Weak transcription	Colonic Mucosa	Colon
6	chr2:189842400-189866600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:189843000-189849400	Weak transcription	Placenta	Placenta
8	chr2:189843400-189861800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:189843600-189847200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:189843600-189874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:189844400-189849400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:189844400-189866200	Weak transcription	Psoas Muscle	Psoas
13	chr2:189844600-189845400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:189844600-189845800	Weak transcription	Fetal Lung	lung
15	chr2:189844600-189847400	Weak transcription	Right Atrium	heart
16	chr2:189844600-189849400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:189844600-189859000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:189844800-189845600	Weak transcription	HSMM	muscle
19	chr2:189844800-189845600	Active TSS	NHDF-Ad	bronchial
20	chr2:189844800-189845800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:189844800-189845800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:189844800-189845800	Weak transcription	Fetal Stomach	stomach
23	chr2:189844800-189845800	Weak transcription	NHLF	lung
24	chr2:189844800-189846000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:189844800-189846200	Weak transcription	Adipose Nuclei	Adipose
26	chr2:189844800-189846200	Enhancers	Osteobl	bone
27	chr2:189844800-189847200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:189844800-189847200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:189844800-189847400	Weak transcription	Aorta	Aorta
30	chr2:189844800-189848200	Weak transcription	NH-A	brain
31	chr2:189844800-189849200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:189844800-189849400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:189844800-189849400	Weak transcription	Ovary	ovary
34	chr2:189844800-189849400	Weak transcription	A549	lung
35	chr2:189844800-189850800	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:189844800-189851400	Weak transcription	Fetal Kidney	kidney
37	chr2:189844800-189857200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:189845000-189845400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:189845000-189847200	Weak transcription	HSMMtube	muscle
40	chr2:189845200-189845600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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