Variant report

Variant	rs535755175
Chromosome Location	chr8:104152817-104152818
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:104152757-104153262	H1-neurons	neurons:	n/a	n/a
2	TBP	chr8:104152574-104153617	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:104151974-104153028	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104152186..104155681-chr8:104309748..104312108,3	MCF-7	breast:

Variant related genes	Relation type
BAALC	TF binding region
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv3327360	chr8:104152001-104154549	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104149000-104153200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:104150800-104153000	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:104151400-104153000	Enhancers	Primary B cells from cord blood	blood
4	chr8:104152000-104153000	Enhancers	Fetal Brain Male	brain
5	chr8:104152200-104153000	Bivalent Enhancer	Esophagus	oesophagus
6	chr8:104152200-104153000	Enhancers	Gastric	stomach
7	chr8:104152200-104153800	Active TSS	Fetal Brain Female	brain
8	chr8:104152200-104154000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr8:104152200-104154000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:104152200-104154000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:104152200-104154200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:104152200-104155600	Active TSS	Brain Substantia Nigra	brain
13	chr8:104152400-104153200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:104152400-104153200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr8:104152400-104153400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr8:104152400-104153600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:104152400-104153800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr8:104152400-104153800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:104152400-104153800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:104152400-104153800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:104152400-104153800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr8:104152400-104154000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:104152400-104154000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr8:104152400-104154000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
25	chr8:104152400-104154600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:104152600-104153200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:104152600-104153200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:104152600-104153200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:104152600-104153200	Bivalent/Poised TSS	Colonic Mucosa	Colon
30	chr8:104152600-104153200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr8:104152600-104153400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
32	chr8:104152600-104153600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:104152600-104153600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:104152600-104153600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
35	chr8:104152600-104153600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr8:104152600-104153600	Flanking Active TSS	Lung	lung
37	chr8:104152600-104153600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:104152600-104153600	Active TSS	Spleen	Spleen
39	chr8:104152600-104153600	Bivalent/Poised TSS	HSMM	muscle
40	chr8:104152600-104153800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:104152600-104153800	Active TSS	Brain Anterior Caudate	brain
42	chr8:104152600-104153800	Active TSS	Osteobl	bone
43	chr8:104152600-104154000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr8:104152600-104154000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:104152600-104154000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr8:104152600-104154000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr8:104152600-104154000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:104152600-104154000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr8:104152600-104154000	Bivalent/Poised TSS	Left Ventricle	heart
50	chr8:104152600-104154000	Bivalent/Poised TSS	Psoas Muscle	Psoas

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