Variant report

Variant	rs573604273
Chromosome Location	chr8:54991851-54991852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54990580..54993539-chr8:55009667..55012320,2	K562	blood:
2	chr8:54990352..54992315-chr8:55004670..55007174,2	K562	blood:
3	chr8:54990580..54994755-chr8:55009285..55012320,3	K562	blood:
4	chr8:54990408..54992108-chr8:55013448..55015139,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120992	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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
2	chr8:54949800-54999400	Weak transcription	NHLF	lung
3	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
9	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
10	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
11	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
13	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
14	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
15	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:54967200-54999200	Weak transcription	Ovary	ovary
17	chr8:54974400-54999200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:54974600-54997400	Weak transcription	Spleen	Spleen
19	chr8:54974600-54999200	Weak transcription	Right Ventricle	heart
20	chr8:54974800-54999200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:54974800-55002200	Weak transcription	Gastric	stomach
22	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:54975800-54999200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:54975800-54999600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:54982600-54999400	Weak transcription	HSMM	muscle
26	chr8:54983800-54999200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:54984000-55005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:54985000-54999200	Weak transcription	Fetal Brain Female	brain
29	chr8:54986000-54997600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:54986000-54999200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:54986200-54992000	Weak transcription	NHEK	skin
32	chr8:54986200-55000000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:54987400-54994800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:54988000-54999000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:54988800-54993600	Strong transcription	Fetal Intestine Small	intestine
36	chr8:54989200-54999200	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:54989400-54994200	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:54989400-54995200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:54989400-54996400	Strong transcription	A549	lung
40	chr8:54989600-54993000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:54989600-54994200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:54989600-54994200	Strong transcription	GM12878-XiMat	blood
43	chr8:54989600-54995000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:54989600-54995200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:54989600-54999000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:54989800-54994400	Strong transcription	HUVEC	blood vessel
47	chr8:54990000-54995400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:54990000-54999000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:54990400-54992000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:54990400-54999200	Weak transcription	HMEC	breast

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