Variant report

Variant	rs542809596
Chromosome Location	chr8:131160192-131160193
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131153447..131156687-chr8:131158655..131161846,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
4	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:131138800-131164600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:131140000-131169200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:131141400-131164400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:131146600-131178800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:131147200-131163800	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:131147600-131162000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:131147600-131170400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
15	chr8:131148000-131183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:131148400-131169800	Weak transcription	K562	blood
18	chr8:131148600-131164800	Weak transcription	Brain Anterior Caudate	brain
19	chr8:131148600-131169800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:131148600-131170200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:131149000-131162000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:131149000-131168000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:131149000-131170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:131149000-131178400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:131149200-131162200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:131149200-131163600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:131149200-131163600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:131149200-131163800	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:131149200-131164000	Weak transcription	Brain Substantia Nigra	brain
30	chr8:131149200-131168600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:131149200-131172200	Weak transcription	HepG2	liver
32	chr8:131149200-131178600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:131149200-131184400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:131149400-131161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:131149400-131163800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:131149400-131163800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:131149400-131169200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:131149400-131169600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:131149600-131162200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:131149600-131169400	Weak transcription	Thymus	Thymus
41	chr8:131150200-131168600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:131150600-131162000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:131150800-131160200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:131150800-131169600	Weak transcription	Brain Germinal Matrix	brain
45	chr8:131152000-131181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:131152200-131182200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:131152800-131193600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:131154400-131164600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:131155000-131168600	Weak transcription	Esophagus	oesophagus
50	chr8:131155200-131162000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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