Variant report

Variant	rs113278511
Chromosome Location	chr2:55483823-55483824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55481770..55484795-chr2:55484832..55488632,4	K562	blood:
2	chr2:55483346..55485243-chr2:55507754..55509735,2	MCF-7	breast:
3	chr2:55481797..55485521-chr2:55489463..55492846,3	K562	blood:
4	chr2:55458420..55460562-chr2:55481965..55484831,2	K562	blood:
5	chr2:55476447..55478832-chr2:55481889..55483888,2	K562	blood:

Variant related genes	Relation type
ENSG00000143947	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000085760	Chromatin interaction
ENSG00000162997	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3502708	chr2:55481350-55506212	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3502709	chr2:55481350-55506212	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv525025	chr2:55483020-55505456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
3	chr2:55461800-55493400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
5	chr2:55462000-55493200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:55462200-55490200	Weak transcription	Small Intestine	intestine
7	chr2:55462600-55485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:55463000-55495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:55463400-55488200	Weak transcription	Pancreas	Pancrea
10	chr2:55463800-55486200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:55463800-55490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:55463800-55494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:55463800-55495600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:55465400-55490600	Weak transcription	Brain Germinal Matrix	brain
16	chr2:55465600-55486000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:55465600-55494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:55466000-55493200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr2:55468200-55493400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:55468400-55493200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:55468400-55494400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:55468600-55494400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:55468800-55493600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:55468800-55494400	Strong transcription	Adipose Nuclei	Adipose
25	chr2:55468800-55494400	Strong transcription	Liver	Liver
26	chr2:55469400-55492600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:55470800-55494200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:55472000-55485000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:55472000-55495200	Weak transcription	Psoas Muscle	Psoas
30	chr2:55473600-55484600	Weak transcription	Hela-S3	cervix
31	chr2:55473600-55490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:55475000-55485200	Weak transcription	HSMMtube	muscle
33	chr2:55475200-55484800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:55475400-55490000	Weak transcription	Gastric	stomach
35	chr2:55476000-55495400	Weak transcription	HUVEC	blood vessel
36	chr2:55476600-55490000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:55476600-55495400	Weak transcription	Aorta	Aorta
38	chr2:55476600-55495400	Weak transcription	Fetal Heart	heart
39	chr2:55476600-55495600	Weak transcription	Esophagus	oesophagus
40	chr2:55476800-55484800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:55476800-55490200	Weak transcription	Spleen	Spleen
42	chr2:55476800-55495400	Weak transcription	Fetal Kidney	kidney
43	chr2:55477000-55490200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:55478400-55485000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:55478400-55493400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:55478400-55494800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:55478800-55488200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:55478800-55489200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:55478800-55494200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:55479000-55493400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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