Variant report

Variant	rs551011953
Chromosome Location	chr2:64321373-64321374
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64316021..64319950-chr2:64320900..64323334,4	K562	blood:
2	chr2:64320691..64322318-chr2:64328074..64330423,2	MCF-7	breast:
3	chr2:64315474..64318085-chr2:64320703..64322833,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv961783	chr2:64320136-64321949	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv961784	chr2:64320136-64323699	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64304200-64321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:64311400-64321800	Weak transcription	Small Intestine	intestine
3	chr2:64311800-64321800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:64311800-64321800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:64313200-64321400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:64313200-64321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:64313200-64321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:64313400-64321800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:64313400-64321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:64313600-64321800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:64313600-64323000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:64313800-64321800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:64313800-64321800	Weak transcription	NH-A	brain
15	chr2:64314200-64321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:64314200-64321800	Weak transcription	Pancreas	Pancrea
17	chr2:64314400-64325000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:64315000-64321800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:64315200-64321800	Weak transcription	Stomach Mucosa	stomach
20	chr2:64315400-64321800	Weak transcription	HSMMtube	muscle
21	chr2:64315600-64321800	Weak transcription	Brain Anterior Caudate	brain
22	chr2:64315600-64321800	Weak transcription	Brain Substantia Nigra	brain
23	chr2:64315600-64322000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:64316000-64321800	Weak transcription	Aorta	Aorta
25	chr2:64316000-64321800	Weak transcription	HepG2	liver
26	chr2:64316000-64321800	Weak transcription	HMEC	breast
27	chr2:64316200-64321800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:64316200-64323200	Weak transcription	Fetal Kidney	kidney
29	chr2:64316600-64324800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:64316800-64321800	Weak transcription	Gastric	stomach
31	chr2:64316800-64321800	Weak transcription	Left Ventricle	heart
32	chr2:64316800-64321800	Weak transcription	Dnd41	blood
33	chr2:64316800-64326200	Strong transcription	Primary T cells from cord blood	blood
34	chr2:64316800-64327400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:64316800-64327800	Strong transcription	Fetal Thymus	thymus
36	chr2:64317000-64321800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:64317000-64321800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:64317000-64321800	Weak transcription	Esophagus	oesophagus
39	chr2:64317000-64321800	Weak transcription	Ovary	ovary
40	chr2:64317000-64322000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:64317000-64322000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:64317000-64323200	Weak transcription	Fetal Brain Male	brain
43	chr2:64317000-64328000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:64317200-64321800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:64317200-64321800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:64317200-64321800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:64317200-64321800	Weak transcription	Spleen	Spleen
48	chr2:64317200-64322000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:64317200-64322000	Weak transcription	NHEK	skin
50	chr2:64317200-64335600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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