Variant report

Variant	rs116111450
Chromosome Location	chr8:11311181-11311182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11306300..11308613-chr8:11308996..11313515,5	K562	blood:
2	chr8:11297528..11299485-chr8:11309455..11311186,2	K562	blood:
3	chr8:11303373..11305446-chr8:11310341..11312400,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
2	chr8:11292400-11313000	Weak transcription	Pancreas	Pancrea
3	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
4	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr8:11305800-11312200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:11306400-11311800	Weak transcription	Gastric	stomach
7	chr8:11306400-11312200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:11306600-11311400	Weak transcription	A549	lung
9	chr8:11307000-11311400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:11307000-11311400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:11307200-11314000	Weak transcription	Fetal Heart	heart
12	chr8:11307200-11322000	Weak transcription	HSMMtube	muscle
13	chr8:11307400-11312000	Weak transcription	Esophagus	oesophagus
14	chr8:11307600-11312400	Weak transcription	Right Ventricle	heart
15	chr8:11307600-11319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:11307800-11311600	Weak transcription	Fetal Brain Male	brain
17	chr8:11307800-11313800	Weak transcription	NHEK	skin
18	chr8:11308000-11312000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:11308200-11311600	Weak transcription	Fetal Brain Female	brain
20	chr8:11308200-11313200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:11308200-11313400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:11308400-11314600	Enhancers	Thymus	Thymus
23	chr8:11308600-11314000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:11308600-11314800	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:11308800-11313600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:11308800-11316600	Enhancers	Primary T cells from cord blood	blood
27	chr8:11309400-11313800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:11309600-11313200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:11309800-11311800	Weak transcription	Spleen	Spleen
30	chr8:11309800-11313800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:11310000-11311200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:11310000-11311200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:11310000-11311600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:11310000-11312200	Enhancers	GM12878-XiMat	blood
35	chr8:11310200-11311200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:11310200-11311800	Weak transcription	Dnd41	blood
37	chr8:11310400-11311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:11310400-11311600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:11310400-11311800	Weak transcription	Brain Angular Gyrus	brain
40	chr8:11310400-11311800	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:11310400-11313800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:11310400-11316400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:11310600-11311400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:11310600-11311600	Weak transcription	Primary B cells from cord blood	blood
45	chr8:11310600-11311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:11310600-11311800	Weak transcription	Brain Anterior Caudate	brain
47	chr8:11310600-11311800	Weak transcription	Brain Substantia Nigra	brain
48	chr8:11310600-11314600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:11310800-11316200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr8:11311000-11312200	Weak transcription	Brain Germinal Matrix	brain

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