Variant report

Variant	rs576832604
Chromosome Location	chr8:55006635-55006636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:55005117..55006971-chr8:55012903..55014492,2	K562	blood:
2	chr8:55005836..55007387-chr8:55012760..55014510,2	MCF-7	breast:
3	chr8:55003709..55008030-chr8:55008912..55012851,6	K562	blood:
4	chr8:54990352..54992315-chr8:55004670..55007174,2	K562	blood:

Variant related genes	Relation type
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 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	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
3	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
4	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:54992000-55006800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:54995600-55007000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:54996000-55008800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr8:54997800-55013800	Weak transcription	Pancreas	Pancrea
10	chr8:54999200-55013200	Weak transcription	Stomach Mucosa	stomach
11	chr8:54999600-55012800	Weak transcription	HSMMtube	muscle
12	chr8:54999800-55013000	Weak transcription	Brain Anterior Caudate	brain
13	chr8:55000000-55006800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:55000000-55006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:55000000-55008200	Weak transcription	Adipose Nuclei	Adipose
16	chr8:55000000-55012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:55000200-55006800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:55000200-55006800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:55000200-55009800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:55000200-55009800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:55000200-55010400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:55000200-55010400	Weak transcription	Lung	lung
23	chr8:55000200-55011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:55000200-55011400	Weak transcription	NH-A	brain
25	chr8:55000200-55011600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:55000200-55011800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:55000200-55012600	Weak transcription	Osteobl	bone
28	chr8:55000200-55013000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:55000200-55013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:55000200-55013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:55000200-55013000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:55000200-55013000	Weak transcription	Colonic Mucosa	Colon
33	chr8:55000200-55013200	Weak transcription	Brain Angular Gyrus	brain
34	chr8:55000200-55013200	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:55000200-55013400	Weak transcription	Ovary	ovary
36	chr8:55000400-55007000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:55000400-55009800	Weak transcription	Liver	Liver
38	chr8:55000400-55012600	Weak transcription	NHDF-Ad	bronchial
39	chr8:55000400-55012800	Weak transcription	Small Intestine	intestine
40	chr8:55000400-55012800	Weak transcription	NHLF	lung
41	chr8:55000600-55006800	Weak transcription	Aorta	Aorta
42	chr8:55000600-55010400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:55001200-55008400	Weak transcription	HMEC	breast
44	chr8:55001200-55011000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:55001400-55008200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:55001800-55011600	Weak transcription	HUVEC	blood vessel
47	chr8:55001800-55012000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:55002400-55012800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:55002600-55007000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:55002800-55007800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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