Variant report

Variant	rs13439609
Chromosome Location	chr8:131282698-131282699
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	chr8:131276192..131278199-chr8:131282560..131285411,2	MCF-7	breast:
2	chr8:131281505..131283976-chr8:131286919..131289472,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10087951	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10112253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13439267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28572338	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711700	1.00[AMR][1000 genomes]
rs73712892	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712897	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131270600-131283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:131270600-131291200	Weak transcription	Liver	Liver
5	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
6	chr8:131275400-131283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
9	chr8:131277000-131288200	Weak transcription	K562	blood
10	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
11	chr8:131278000-131288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:131278200-131288800	Weak transcription	Esophagus	oesophagus
13	chr8:131278400-131289200	Weak transcription	Fetal Thymus	thymus
14	chr8:131278600-131283200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:131278600-131283200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:131278600-131289000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:131278600-131289200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:131278800-131283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:131279000-131282800	Weak transcription	HMEC	breast
20	chr8:131279600-131282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:131279600-131284000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:131279800-131283600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:131280400-131283200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:131280400-131283800	Enhancers	NHLF	lung
25	chr8:131280600-131283600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:131280600-131286200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:131280600-131286400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:131280800-131284000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:131281000-131283200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:131281000-131283600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:131281200-131283400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:131281400-131283400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr8:131281400-131283800	Enhancers	HUVEC	blood vessel
34	chr8:131281600-131282800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:131281600-131287400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:131281800-131282800	Weak transcription	NHEK	skin
37	chr8:131281800-131283200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:131281800-131283600	Enhancers	NH-A	brain
39	chr8:131281800-131283800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:131281800-131286200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:131281800-131287600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:131281800-131288800	Weak transcription	GM12878-XiMat	blood
43	chr8:131282000-131283000	Weak transcription	Brain Anterior Caudate	brain
44	chr8:131282000-131283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:131282000-131283400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:131282000-131286400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:131282000-131286400	Weak transcription	NHDF-Ad	bronchial
48	chr8:131282000-131286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:131282000-131286800	Weak transcription	Primary T cells from cord blood	blood
50	chr8:131282000-131287200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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