Variant report

Variant	rs189778545
Chromosome Location	chr8:126369447-126369448
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126367782..126370387-chr8:126440468..126442210,2	K562	blood:
2	chr8:126362447..126364005-chr8:126367534..126370011,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254431	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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2761467	chr8:126368375-126385095	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126348800-126369800	Weak transcription	Gastric	stomach
3	chr8:126353200-126369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:126354800-126371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
7	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
9	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:126355000-126369600	Weak transcription	Fetal Intestine Large	intestine
11	chr8:126355000-126374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:126355200-126369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:126355200-126373000	Weak transcription	NH-A	brain
14	chr8:126355200-126374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:126355200-126374800	Weak transcription	HMEC	breast
16	chr8:126355200-126378800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:126355400-126369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:126355600-126374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:126355600-126374400	Weak transcription	NHLF	lung
20	chr8:126355600-126374600	Weak transcription	NHDF-Ad	bronchial
21	chr8:126355600-126375200	Weak transcription	Small Intestine	intestine
22	chr8:126356000-126370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:126356800-126372000	Weak transcription	Liver	Liver
24	chr8:126358800-126376800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:126359400-126372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:126359600-126371800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:126360400-126370200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:126361400-126372000	Weak transcription	Fetal Kidney	kidney
29	chr8:126361800-126371600	Weak transcription	Fetal Intestine Small	intestine
30	chr8:126361800-126372000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:126361800-126383200	Weak transcription	Psoas Muscle	Psoas
32	chr8:126362200-126369800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:126362200-126370000	Weak transcription	Hela-S3	cervix
34	chr8:126362400-126371800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:126362600-126372800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:126362600-126373200	Weak transcription	Osteobl	bone
37	chr8:126362600-126373600	Weak transcription	HSMM	muscle
38	chr8:126362800-126372400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:126363400-126374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:126364600-126369800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:126365000-126379000	Weak transcription	Fetal Brain Male	brain
42	chr8:126365400-126369600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:126365400-126369800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:126365400-126372000	Weak transcription	HSMMtube	muscle
45	chr8:126365400-126374200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:126365600-126372800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:126365600-126380000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:126365600-126381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:126365800-126369600	Weak transcription	Fetal Thymus	thymus
50	chr8:126365800-126372000	Weak transcription	Primary monocytes fromperipheralblood	blood

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