Variant report

Variant	rs547498686
Chromosome Location	chr8:11313207-11313208
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11312294..11314584-chr8:11324898..11327052,2	K562	blood:
2	chr8:11306364..11309144-chr8:11311400..11314118,3	MCF-7	breast:
3	chr8:11306300..11308613-chr8:11308996..11313515,5	K562	blood:
4	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
5	chr8:11311333..11313794-chr8:11324898..11327371,2	K562	blood:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3443447	chr8:11310642-11315840	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv824538	chr8:11312653-11313977	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv13461	chr8:11312680-11314577	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3391124	chr8:11312776-11313488	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3443104	chr8:11312846-11313294	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3416313	chr8:11312935-11314065	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
2	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
3	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr8:11307200-11314000	Weak transcription	Fetal Heart	heart
5	chr8:11307200-11322000	Weak transcription	HSMMtube	muscle
6	chr8:11307600-11319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:11307800-11313800	Weak transcription	NHEK	skin
8	chr8:11308200-11313400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:11308400-11314600	Enhancers	Thymus	Thymus
10	chr8:11308600-11314000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr8:11308600-11314800	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:11308800-11313600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:11308800-11316600	Enhancers	Primary T cells from cord blood	blood
14	chr8:11309400-11313800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:11309800-11313800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:11310400-11313800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:11310400-11316400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:11310600-11314600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:11310800-11316200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr8:11311000-11313600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:11311000-11313800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:11311200-11313800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr8:11311200-11316200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr8:11311200-11317000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr8:11311200-11317200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:11311400-11313800	Enhancers	A549	lung
27	chr8:11311400-11315200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:11311600-11314000	Enhancers	Fetal Brain Male	brain
29	chr8:11311600-11314200	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:11311600-11314800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:11311600-11316600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr8:11311800-11313400	Enhancers	Brain Angular Gyrus	brain
33	chr8:11311800-11313400	Enhancers	Spleen	Spleen
34	chr8:11311800-11313600	Enhancers	Gastric	stomach
35	chr8:11311800-11313800	Enhancers	Brain Substantia Nigra	brain
36	chr8:11312000-11313800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:11312200-11313600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:11312200-11313600	Weak transcription	GM12878-XiMat	blood
39	chr8:11312400-11315400	Enhancers	Right Ventricle	heart
40	chr8:11312400-11316400	Enhancers	Stomach Mucosa	stomach
41	chr8:11312600-11314000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:11312600-11314000	Weak transcription	Brain Anterior Caudate	brain
43	chr8:11312800-11313400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:11312800-11313600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:11312800-11313600	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:11312800-11313800	Weak transcription	Dnd41	blood
47	chr8:11312800-11314800	Weak transcription	NHDF-Ad	bronchial
48	chr8:11312800-11315200	Enhancers	Esophagus	oesophagus
49	chr8:11312800-11315400	Enhancers	Lung	lung
50	chr8:11312800-11318600	Weak transcription	Fetal Brain Female	brain

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