Variant report

Variant	rs541111214
Chromosome Location	chr8:19674048-19674049
allele	A/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	STAT3	chr8:19673907-19675056	MCF10A-Er-Src	breast:	n/a	chr8:19674815-19674826
2	NRF1	chr8:19673997-19676016	SK-N-SH	brain:	n/a	chr8:19674708-19674722 chr8:19674710-19674721 chr8:19674711-19674722 chr8:19674695-19674706
3	POLR2A	chr8:19673822-19676071	HepG2	liver:	n/a	n/a
4	MXI1	chr8:19673981-19676882	IMR90	lung:	n/a	n/a
5	ESRRA	chr8:19673891-19675914	GM12878	blood:	n/a	chr8:19674729-19674745 chr8:19674731-19674741 chr8:19674734-19674744
6	RFX5	chr8:19673569-19676511	SK-N-SH	brain:	n/a	chr8:19675658-19675673
7	MXI1	chr8:19673637-19676331	SK-N-SH	brain:	n/a	n/a
8	RCOR1	chr8:19673874-19675967	K562	blood:	n/a	n/a
9	MAZ	chr8:19674008-19675256	IMR90	lung:	n/a	chr8:19674517-19674527

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19673492..19676303-chr8:19685537..19688131,3	MCF-7	breast:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS 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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3425950	chr8:19673522-19676520	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19672400-19674200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:19673600-19674400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:19673600-19675800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:19673600-19675800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:19673600-19676000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:19673800-19674200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:19673800-19674200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:19673800-19674200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:19673800-19674200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:19673800-19674200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:19673800-19674200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr8:19673800-19674200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:19673800-19674200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:19673800-19674200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:19673800-19674200	Flanking Active TSS	Liver	Liver
16	chr8:19673800-19674200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr8:19673800-19674200	Enhancers	Fetal Thymus	thymus
18	chr8:19673800-19674200	Enhancers	Gastric	stomach
19	chr8:19673800-19674200	Enhancers	Pancreas	Pancrea
20	chr8:19673800-19674200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr8:19673800-19674200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr8:19673800-19674200	Enhancers	Stomach Mucosa	stomach
23	chr8:19673800-19674200	Flanking Active TSS	HepG2	liver
24	chr8:19673800-19674200	Flanking Active TSS	Osteobl	bone
25	chr8:19673800-19674400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr8:19673800-19674400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:19673800-19674400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:19673800-19674400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:19673800-19674400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:19673800-19674400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:19673800-19674400	Flanking Active TSS	Dnd41	blood
32	chr8:19673800-19674400	Flanking Active TSS	Hela-S3	cervix
33	chr8:19673800-19674600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr8:19673800-19674800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:19673800-19675400	Active TSS	HMEC	breast
36	chr8:19673800-19675600	Active TSS	Brain Germinal Matrix	brain
37	chr8:19673800-19675600	Active TSS	Fetal Brain Female	brain
38	chr8:19673800-19675800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:19673800-19675800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr8:19673800-19675800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr8:19673800-19675800	Active TSS	Rectal Smooth Muscle	rectum
42	chr8:19673800-19675800	Active TSS	HSMM	muscle
43	chr8:19673800-19676000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:19673800-19676000	Active TSS	Colonic Mucosa	Colon
45	chr8:19673800-19676000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr8:19673800-19676200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:19673800-19676200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:19673800-19676200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:19673800-19676200	Active TSS	Brain Angular Gyrus	brain
50	chr8:19673800-19676200	Active TSS	Fetal Intestine Large	intestine

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