Variant report

Variant	rs193288990
Chromosome Location	chr2:55910663-55910664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55910372..55912674-chr2:55919514..55921035,2	MCF-7	breast:
2	chr2:55908913..55911082-chr2:55915955..55917919,2	K562	blood:
3	chr2:55890547..55892839-chr2:55908611..55911224,2	K562	blood:
4	chr2:55907894..55910772-chr2:55917200..55919535,2	K562	blood:

Variant related genes	Relation type
ENSG00000138035	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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv2762645	chr2:55892248-55963418	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2760573	chr2:55903016-55941440	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv9802	chr2:55910254-55939253	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:55846800-55919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55847400-55911000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:55858200-55920400	Weak transcription	Fetal Heart	heart
4	chr2:55864400-55919600	Weak transcription	NHLF	lung
5	chr2:55866600-55920000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:55870400-55920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:55870600-55920000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:55870800-55920400	Weak transcription	Aorta	Aorta
9	chr2:55871000-55920000	Weak transcription	Spleen	Spleen
10	chr2:55873200-55919800	Weak transcription	Small Intestine	intestine
11	chr2:55874800-55920200	Weak transcription	Pancreas	Pancrea
12	chr2:55879000-55917600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:55879400-55914200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:55881200-55913000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:55883000-55919800	Weak transcription	HSMMtube	muscle
16	chr2:55889800-55918400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:55890200-55915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:55890400-55914200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:55892000-55914000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:55892200-55914000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:55892400-55919800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:55892600-55917000	Strong transcription	Dnd41	blood
23	chr2:55893200-55915800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:55894000-55919800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:55895800-55920000	Weak transcription	Right Ventricle	heart
26	chr2:55897000-55914400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:55897600-55913600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:55897600-55914200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:55898000-55913600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:55901200-55915000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:55901200-55915200	Strong transcription	GM12878-XiMat	blood
32	chr2:55901800-55914200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:55901800-55916000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:55902000-55914000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:55902000-55914000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:55902000-55915200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:55902000-55916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:55903200-55915800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:55903400-55914200	Strong transcription	Adipose Nuclei	Adipose
40	chr2:55903600-55913200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:55903600-55914200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:55903600-55915800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:55904000-55913400	Strong transcription	Fetal Thymus	thymus
44	chr2:55904000-55913800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:55904000-55914000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:55904000-55914200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:55904200-55916400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:55904200-55920600	Weak transcription	Stomach Mucosa	stomach
49	chr2:55904600-55911200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:55904600-55920200	Weak transcription	Gastric	stomach

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