Variant report

Variant	rs146323404
Chromosome Location	chr8:110349210-110349211
allele	C/G
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	FOXA1	chr8:110348922-110349246	T-47D	breast:	n/a	n/a
2	ZNF384	chr8:110349076-110349398	K562	blood:	n/a	n/a
3	FOXA1	chr8:110348911-110349221	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:
2	chr8:110296774..110299286-chr8:110348162..110350315,2	K562	blood:
3	chr8:110344786..110348564-chr8:110349076..110353866,8	MCF-7	breast:

Variant related genes	Relation type
ENY2	TF binding region
NUDCD1	TF binding region
ENSG00000147654	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000120526	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3333568	chr8:110349134-110349396	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110347000-110358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:110347000-110358400	Weak transcription	Spleen	Spleen
3	chr8:110347000-110358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:110347200-110354800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:110347200-110355000	Weak transcription	Lung	lung
6	chr8:110347200-110357600	Weak transcription	Pancreas	Pancrea
7	chr8:110347200-110358200	Weak transcription	Esophagus	oesophagus
8	chr8:110347200-110359800	Weak transcription	Gastric	stomach
9	chr8:110347400-110349400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:110347400-110349800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:110347400-110350000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:110347400-110351200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:110347400-110356200	Weak transcription	Ovary	ovary
14	chr8:110347400-110358000	Weak transcription	Colonic Mucosa	Colon
15	chr8:110347400-110358400	Weak transcription	Fetal Brain Male	brain
16	chr8:110347400-110359400	Weak transcription	Aorta	Aorta
17	chr8:110347400-110359400	Weak transcription	Brain Substantia Nigra	brain
18	chr8:110347400-110360000	Weak transcription	Stomach Mucosa	stomach
19	chr8:110347600-110349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:110347600-110349800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:110347600-110350000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:110347600-110350200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:110347600-110350400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:110347600-110354800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:110347600-110354800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:110347600-110356000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:110347600-110357800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:110347600-110358200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:110347600-110358200	Weak transcription	HSMMtube	muscle
30	chr8:110347600-110358400	Weak transcription	Fetal Stomach	stomach
31	chr8:110348000-110349400	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:110348000-110349600	Weak transcription	Thymus	Thymus
33	chr8:110348000-110350800	Weak transcription	Psoas Muscle	Psoas
34	chr8:110348000-110351000	Weak transcription	Brain Angular Gyrus	brain
35	chr8:110348000-110356200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:110348000-110358400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:110348200-110349400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
38	chr8:110348200-110349600	Enhancers	Fetal Heart	heart
39	chr8:110348200-110350600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:110348200-110353400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr8:110348200-110355200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr8:110348200-110356600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:110348200-110356600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr8:110348200-110356600	Strong transcription	A549	lung
45	chr8:110348200-110356800	Strong transcription	Placenta	Placenta
46	chr8:110348200-110356800	Strong transcription	NH-A	brain
47	chr8:110348200-110357000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:110348200-110357000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:110348200-110357400	Strong transcription	Primary B cells from cord blood	blood
50	chr8:110348200-110357400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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