Variant report

Variant	rs114986121
Chromosome Location	chr5:80536464-80536465
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80531823..80533359-chr5:80535137..80538128,2	K562	blood:
2	chr5:80533844..80536662-chr5:80539256..80543290,4	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2763877	chr5:80535750-80545341	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80527000-80546200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
3	chr5:80529400-80540800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:80529400-80541000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:80529400-80543400	Weak transcription	NHLF	lung
6	chr5:80529400-80544200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:80529400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:80529600-80541000	Weak transcription	Fetal Intestine Large	intestine
9	chr5:80529600-80542800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:80529600-80545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:80530000-80537200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:80530000-80546400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:80530200-80541600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:80530200-80544000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:80530600-80537400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:80530600-80542800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:80530600-80543000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:80530600-80543800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:80530600-80544000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:80530800-80556400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:80531000-80540200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:80531200-80536800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:80531200-80538600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:80531200-80540000	Weak transcription	Aorta	Aorta
25	chr5:80531200-80542400	Weak transcription	Primary T cells from cord blood	blood
26	chr5:80531200-80551200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:80531200-80556400	Weak transcription	Thymus	Thymus
28	chr5:80531200-80564200	Weak transcription	HepG2	liver
29	chr5:80531400-80538200	Weak transcription	Pancreas	Pancrea
30	chr5:80531600-80542800	Weak transcription	Brain Germinal Matrix	brain
31	chr5:80531800-80538200	Weak transcription	HSMMtube	muscle
32	chr5:80531800-80541000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:80531800-80543400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:80531800-80555800	Weak transcription	Fetal Lung	lung
35	chr5:80532000-80538800	Weak transcription	Gastric	stomach
36	chr5:80532000-80540800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:80532000-80541600	Weak transcription	Fetal Brain Female	brain
38	chr5:80532000-80542600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:80532000-80548400	Weak transcription	Lung	lung
40	chr5:80532200-80538400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:80532200-80548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:80532200-80551000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:80532200-80556800	Weak transcription	Dnd41	blood
44	chr5:80532400-80541800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:80532600-80545200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:80534000-80537200	Enhancers	Psoas Muscle	Psoas
47	chr5:80534400-80536800	Strong transcription	Fetal Muscle Leg	muscle
48	chr5:80534800-80537000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:80534800-80537000	Enhancers	Brain Substantia Nigra	brain
50	chr5:80534800-80542400	Weak transcription	Stomach Smooth Muscle	stomach

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