Variant report

Variant	rs13258627
Chromosome Location	chr8:10274578-10274579
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	chr8:10271744..10274704-chr8:10275996..10278041,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11249995	0.89[CHB][hapmap]
rs11249996	0.83[CHB][hapmap]
rs11250004	0.87[CEU][hapmap]
rs12543645	0.83[CHB][hapmap]
rs12550717	0.81[AMR][1000 genomes]
rs17767186	0.82[YRI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35112858	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35338507	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4521760	0.84[CEU][hapmap]
rs6601455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6999466	0.81[AMR][1000 genomes]
rs7824225	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv465460	chr8:10241411-10290566	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv610265	chr8:10241411-10290566	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv610266	chr8:10250758-10294330	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv1019701	chr8:10254709-10279269	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890348	chr8:10265712-10289663	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13258627	AF131215.2	cis	Skin Sun Exposed Lower leg	GTEx
rs13258627	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs13258627	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10249000-10275200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:10262000-10275200	Weak transcription	Psoas Muscle	Psoas
4	chr8:10263600-10275200	Weak transcription	Pancreas	Pancrea
5	chr8:10263600-10283400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:10267800-10275200	Weak transcription	Right Atrium	heart
7	chr8:10268200-10275200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:10269600-10275000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:10270000-10275200	Weak transcription	Brain Anterior Caudate	brain
10	chr8:10270200-10274800	Weak transcription	Brain Germinal Matrix	brain
11	chr8:10270800-10274800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:10270800-10275000	Weak transcription	Liver	Liver
13	chr8:10270800-10275800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:10271000-10274600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:10271000-10281200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:10272200-10274600	Weak transcription	Brain Angular Gyrus	brain
17	chr8:10272400-10274800	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:10272400-10276600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:10272600-10275200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:10272600-10275200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:10272800-10276000	Enhancers	Spleen	Spleen
22	chr8:10273000-10274800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:10273200-10274600	Weak transcription	Fetal Brain Male	brain
24	chr8:10273400-10274800	Weak transcription	Primary T cells from cord blood	blood
25	chr8:10273400-10274800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr8:10273400-10275000	Weak transcription	Primary B cells from cord blood	blood
27	chr8:10273600-10274800	Weak transcription	Fetal Thymus	thymus
28	chr8:10273800-10275200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr8:10274000-10274600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr8:10274000-10274600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:10274000-10274800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr8:10274000-10275000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:10274000-10276000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:10274000-10277400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:10274000-10277600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:10274000-10277600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:10274200-10275000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:10274200-10275000	Enhancers	Fetal Brain Female	brain
39	chr8:10274200-10275200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:10274200-10275200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr8:10274200-10275200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:10274200-10277200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr8:10274400-10274600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr8:10274400-10274600	Enhancers	Stomach Smooth Muscle	stomach
45	chr8:10274400-10274800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr8:10274400-10276000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:10274400-10276000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr8:10274400-10276000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:10274400-10276000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:10274400-10276000	Enhancers	HSMMtube	muscle

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