Variant report

Variant	rs142028869
Chromosome Location	chr8:11313937-11313938
allele	A/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	chr8:11304077..11306061-chr8:11313210..11316017,2	K562	blood:
4	chr8:11273893..11276099-chr8:11313214..11316137,2	MCF-7	breast:
5	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
6	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:
7	chr8:11313788..11316536-chr8:11322548..11325766,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
13	esv3438005	chr8:11313367-11315915	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
2	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr8:11307200-11314000	Weak transcription	Fetal Heart	heart
4	chr8:11307200-11322000	Weak transcription	HSMMtube	muscle
5	chr8:11307600-11319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:11308400-11314600	Enhancers	Thymus	Thymus
7	chr8:11308600-11314000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr8:11308600-11314800	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:11308800-11316600	Enhancers	Primary T cells from cord blood	blood
10	chr8:11310400-11316400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:11310600-11314600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:11310800-11316200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:11311200-11316200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr8:11311200-11317000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:11311200-11317200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:11311400-11315200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:11311600-11314000	Enhancers	Fetal Brain Male	brain
18	chr8:11311600-11314200	Enhancers	Brain Cingulate Gyrus	brain
19	chr8:11311600-11314800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:11311600-11316600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:11312400-11315400	Enhancers	Right Ventricle	heart
22	chr8:11312400-11316400	Enhancers	Stomach Mucosa	stomach
23	chr8:11312600-11314000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:11312600-11314000	Weak transcription	Brain Anterior Caudate	brain
25	chr8:11312800-11314800	Weak transcription	NHDF-Ad	bronchial
26	chr8:11312800-11315200	Enhancers	Esophagus	oesophagus
27	chr8:11312800-11315400	Enhancers	Lung	lung
28	chr8:11312800-11318600	Weak transcription	Fetal Brain Female	brain
29	chr8:11313000-11314000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:11313000-11315400	Enhancers	Pancreas	Pancrea
31	chr8:11313000-11318000	Weak transcription	Brain Germinal Matrix	brain
32	chr8:11313200-11316600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:11313400-11314000	Flanking Active TSS	Spleen	Spleen
34	chr8:11313400-11314800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:11313400-11314800	Weak transcription	Brain Angular Gyrus	brain
36	chr8:11313400-11316000	Enhancers	Colonic Mucosa	Colon
37	chr8:11313400-11323000	Enhancers	Primary B cells from cord blood	blood
38	chr8:11313600-11314000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:11313600-11314000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:11313600-11314000	Flanking Active TSS	Gastric	stomach
41	chr8:11313600-11314200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr8:11313600-11314200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:11313600-11314200	Enhancers	Right Atrium	heart
44	chr8:11313600-11314400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr8:11313600-11314600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr8:11313600-11314600	Enhancers	GM12878-XiMat	blood
47	chr8:11313600-11315200	Enhancers	Left Ventricle	heart
48	chr8:11313600-11316400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:11313600-11316800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:11313600-11317400	Enhancers	Primary monocytes fromperipheralblood	blood

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