Variant report

Variant	rs543218341
Chromosome Location	chr5:95143499-95143500
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	chr5:95136480..95139124-chr5:95140917..95143834,2	K562	blood:
2	chr5:95097577..95099971-chr5:95142843..95145150,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95117400-95144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
4	chr5:95124400-95143800	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:95124600-95143800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:95124600-95144000	Weak transcription	Brain Substantia Nigra	brain
7	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
8	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:95126400-95143600	Weak transcription	Dnd41	blood
10	chr5:95127800-95149200	Weak transcription	Fetal Brain Female	brain
11	chr5:95128000-95143600	Weak transcription	Spleen	Spleen
12	chr5:95128000-95143800	Weak transcription	Lung	lung
13	chr5:95129800-95143600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:95130000-95143600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:95130000-95145000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:95130000-95145000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:95130000-95157400	Weak transcription	Ovary	ovary
18	chr5:95130200-95143600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:95130200-95143600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:95130200-95143600	Weak transcription	Hela-S3	cervix
21	chr5:95130400-95146000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:95132800-95143600	Weak transcription	Fetal Stomach	stomach
23	chr5:95132800-95144200	Weak transcription	NHLF	lung
24	chr5:95133400-95144000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:95133600-95144200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:95133600-95147800	Weak transcription	K562	blood
27	chr5:95134000-95143800	Weak transcription	HSMM	muscle
28	chr5:95138000-95143600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:95139200-95143600	Weak transcription	Small Intestine	intestine
30	chr5:95139200-95143800	Weak transcription	Right Ventricle	heart
31	chr5:95139200-95144400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:95139600-95143600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:95139600-95143800	Weak transcription	Psoas Muscle	Psoas
34	chr5:95139600-95144000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:95139600-95144000	Weak transcription	NHDF-Ad	bronchial
36	chr5:95139600-95144000	Weak transcription	Osteobl	bone
37	chr5:95139600-95144600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:95139600-95145400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:95139800-95143600	Weak transcription	Gastric	stomach
40	chr5:95139800-95143600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:95139800-95143600	Weak transcription	HSMMtube	muscle
42	chr5:95139800-95143800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:95139800-95143800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:95139800-95143800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:95139800-95143800	Weak transcription	Right Atrium	heart
46	chr5:95139800-95154200	Weak transcription	Pancreas	Pancrea
47	chr5:95140200-95143800	Weak transcription	Placenta	Placenta
48	chr5:95140600-95143800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr5:95141000-95144800	Weak transcription	Liver	Liver
50	chr5:95141200-95143800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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