Variant report

Variant	rs1430849
Chromosome Location	chr8:125736146-125736147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:
2	chr8:125647571..125649356-chr8:125735665..125737482,2	MCF-7	breast:
3	chr8:125605731..125607581-chr8:125735892..125738512,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255080	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12679774	0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs2891101	0.86[ASN][1000 genomes]
rs4870921	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4870925	0.86[ASN][1000 genomes]
rs7824749	0.86[ASN][1000 genomes]
rs7844808	0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs891539	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs891542	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs891543	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs891544	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs967943	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv612147	chr8:125733120-125751065	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1430849	KIAA0196	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125723200-125737200	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:125723600-125737200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125724600-125738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:125724800-125737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:125728800-125736400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125730000-125737600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:125730200-125737000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:125730200-125737600	Enhancers	Fetal Heart	heart
9	chr8:125731000-125738200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:125731400-125738200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:125731400-125738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:125733000-125738800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:125733200-125737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:125733200-125738400	Weak transcription	K562	blood
15	chr8:125733400-125737000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:125733800-125736200	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:125733800-125736800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:125733800-125737000	Enhancers	Fetal Brain Male	brain
19	chr8:125733800-125738000	Flanking Active TSS	Liver	Liver
20	chr8:125734000-125737000	Enhancers	Adipose Nuclei	Adipose
21	chr8:125734000-125738000	Enhancers	Brain Anterior Caudate	brain
22	chr8:125734200-125736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:125734200-125737200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:125734200-125738000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:125734200-125738200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:125734200-125738400	Weak transcription	Esophagus	oesophagus
27	chr8:125734400-125737200	Genic enhancers	Primary B cells from cord blood	blood
28	chr8:125734600-125736200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:125734600-125736600	Weak transcription	Lung	lung
30	chr8:125734600-125737000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr8:125734600-125738000	Weak transcription	Placenta	Placenta
32	chr8:125734800-125736600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:125734800-125736600	Weak transcription	Gastric	stomach
34	chr8:125734800-125738200	Enhancers	Brain Hippocampus Middle	brain
35	chr8:125735000-125736400	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr8:125735000-125736400	Weak transcription	Fetal Intestine Large	intestine
37	chr8:125735000-125738400	Weak transcription	Stomach Mucosa	stomach
38	chr8:125735200-125737000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr8:125735200-125737600	Weak transcription	Fetal Lung	lung
40	chr8:125735600-125736600	Weak transcription	Spleen	Spleen
41	chr8:125735600-125737000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:125735600-125737800	Enhancers	Right Atrium	heart
43	chr8:125735800-125736200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr8:125735800-125736400	Enhancers	Fetal Thymus	thymus
45	chr8:125735800-125736400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr8:125735800-125737000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr8:125735800-125737200	Enhancers	Brain Cingulate Gyrus	brain
48	chr8:125735800-125737200	Enhancers	Brain Substantia Nigra	brain
49	chr8:125735800-125737200	Enhancers	Fetal Muscle Leg	muscle
50	chr8:125735800-125737400	Enhancers	Psoas Muscle	Psoas

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