Variant report

Variant	rs181459190
Chromosome Location	chr5:95145978-95145979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95129490..95131493-chr5:95145014..95147003,2	K562	blood:
2	chr5:95145254..95146894-chr5:95156475..95158183,2	K562	blood:

Variant related genes	Relation type
ENSG00000173221	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95127800-95149200	Weak transcription	Fetal Brain Female	brain
6	chr5:95130000-95157400	Weak transcription	Ovary	ovary
7	chr5:95130400-95146000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:95133600-95147800	Weak transcription	K562	blood
9	chr5:95139800-95154200	Weak transcription	Pancreas	Pancrea
10	chr5:95142800-95148000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr5:95143000-95148600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:95143200-95147600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:95143200-95148400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:95143200-95153600	Genic enhancers	Fetal Thymus	thymus
15	chr5:95143400-95148000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr5:95143600-95146000	Genic enhancers	Fetal Intestine Small	intestine
17	chr5:95143600-95146600	Enhancers	Fetal Stomach	stomach
18	chr5:95143600-95146800	Enhancers	Colonic Mucosa	Colon
19	chr5:95143600-95147000	Enhancers	Small Intestine	intestine
20	chr5:95143600-95147800	Enhancers	Primary hematopoietic stem cells	blood
21	chr5:95143800-95146200	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr5:95143800-95146200	Enhancers	A549	lung
23	chr5:95143800-95146600	Enhancers	Placenta	Placenta
24	chr5:95143800-95146800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:95143800-95147200	Enhancers	Stomach Mucosa	stomach
26	chr5:95143800-95147800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:95143800-95147800	Enhancers	Fetal Intestine Large	intestine
28	chr5:95143800-95148400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:95143800-95149600	Enhancers	Fetal Lung	lung
30	chr5:95144000-95146200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:95144000-95146600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:95144000-95146800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr5:95144200-95146800	Enhancers	NH-A	brain
34	chr5:95144200-95147000	Enhancers	NHLF	lung
35	chr5:95144200-95147200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:95144200-95147600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:95144200-95147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:95144200-95147800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:95144200-95147800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr5:95144200-95148000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:95144200-95150400	Weak transcription	Hela-S3	cervix
42	chr5:95144400-95146000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr5:95144400-95146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:95144400-95146600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:95144400-95146800	Enhancers	Primary B cells from peripheral blood	blood
46	chr5:95144400-95147800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:95144600-95146200	Weak transcription	Right Atrium	heart
48	chr5:95144600-95146600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:95144600-95146800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:95144600-95146800	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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