Variant report

Variant	rs56238509
Chromosome Location	chr8:124520547-124520548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124515497..124517481-chr8:124519081..124521307,3	MCF-7	breast:
2	chr8:124515030..124516970-chr8:124519414..124522269,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16898473	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124509200-124528600	Weak transcription	Small Intestine	intestine
2	chr8:124510200-124549200	Weak transcription	Fetal Brain Male	brain
3	chr8:124510400-124531800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:124510800-124523000	Weak transcription	Fetal Intestine Large	intestine
5	chr8:124511000-124526000	Strong transcription	HSMMtube	muscle
6	chr8:124512000-124542200	Weak transcription	Liver	Liver
7	chr8:124512200-124521000	Weak transcription	Primary B cells from cord blood	blood
8	chr8:124512200-124528400	Weak transcription	NHLF	lung
9	chr8:124512200-124529000	Weak transcription	Colonic Mucosa	Colon
10	chr8:124512400-124532600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:124513200-124524800	Genic enhancers	Stomach Smooth Muscle	stomach
12	chr8:124513200-124525400	Strong transcription	Ovary	ovary
13	chr8:124513400-124529000	Genic enhancers	Colon Smooth Muscle	Colon
14	chr8:124513800-124525000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:124513800-124529000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:124514000-124528600	Weak transcription	Stomach Mucosa	stomach
17	chr8:124514000-124529200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:124514200-124529400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:124515200-124525200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:124515200-124528400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:124515600-124543600	Weak transcription	Brain Germinal Matrix	brain
22	chr8:124515800-124522800	Weak transcription	HUVEC	blood vessel
23	chr8:124515800-124523000	Weak transcription	Pancreas	Pancrea
24	chr8:124516000-124523000	Weak transcription	HSMM	muscle
25	chr8:124516000-124524000	Strong transcription	Aorta	Aorta
26	chr8:124516000-124525000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:124516000-124525000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:124516200-124522000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:124516200-124524800	Weak transcription	Fetal Brain Female	brain
30	chr8:124516200-124528800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:124517200-124526000	Weak transcription	Psoas Muscle	Psoas
32	chr8:124517400-124524000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:124517400-124525600	Weak transcription	NHDF-Ad	bronchial
34	chr8:124517600-124520800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:124517600-124522800	Weak transcription	Thymus	Thymus
36	chr8:124517600-124523000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:124517600-124523800	Weak transcription	Fetal Thymus	thymus
38	chr8:124517600-124525400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:124517800-124520800	Strong transcription	Primary T cells from cord blood	blood
40	chr8:124517800-124523600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:124518000-124522000	Strong transcription	Fetal Intestine Small	intestine
42	chr8:124518000-124523200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:124518000-124523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:124518200-124528400	Weak transcription	NH-A	brain
45	chr8:124518400-124526400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
46	chr8:124518600-124522000	Enhancers	Right Atrium	heart
47	chr8:124518600-124526600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:124518600-124527600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr8:124518800-124523400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:124518800-124529000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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