Variant report

Variant	rs12550366
Chromosome Location	chr8:131136047-131136048
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131132549..131136188-chr8:131136344..131140463,4	MCF-7	breast:
2	chr8:131134192..131138136-chr8:131138332..131141936,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11774633	0.81[ASN][1000 genomes]
rs11774659	0.80[ASN][1000 genomes]
rs7002892	0.82[ASN][1000 genomes]

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131114400-131138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:131114600-131137200	Strong transcription	A549	lung
5	chr8:131115200-131137600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:131115800-131138200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
9	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:131117400-131137200	Strong transcription	NHLF	lung
11	chr8:131117600-131136800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:131118400-131140400	Strong transcription	Placenta	Placenta
14	chr8:131118400-131140800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
16	chr8:131118600-131137800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:131118600-131140800	Strong transcription	Primary B cells from cord blood	blood
18	chr8:131118800-131140200	Strong transcription	Fetal Thymus	thymus
19	chr8:131118800-131141000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:131119000-131137400	Strong transcription	Osteobl	bone
21	chr8:131119200-131137200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:131119200-131138000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:131119600-131140800	Strong transcription	Liver	Liver
24	chr8:131121400-131137600	Strong transcription	NHEK	skin
25	chr8:131123400-131136400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:131124000-131140800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:131124800-131138400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:131124800-131145800	Weak transcription	Right Ventricle	heart
29	chr8:131125200-131138400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:131125600-131141800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr8:131125600-131143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:131125800-131151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:131126200-131137200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:131126200-131138200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:131126400-131141600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:131126800-131137400	Strong transcription	NHDF-Ad	bronchial
37	chr8:131127800-131140400	Strong transcription	Left Ventricle	heart
38	chr8:131128000-131143600	Weak transcription	Aorta	Aorta
39	chr8:131128000-131143600	Weak transcription	Pancreas	Pancrea
40	chr8:131128200-131138600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
42	chr8:131128400-131139000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:131128800-131147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
45	chr8:131129000-131138800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:131129200-131141000	Strong transcription	Adipose Nuclei	Adipose
47	chr8:131129200-131144400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:131129200-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:131130000-131138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:131130200-131138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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