Variant report

Variant	rs11997261
Chromosome Location	chr8:8524361-8524362
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	chr8:8517125..8519695-chr8:8524278..8527180,2	MCF-7	breast:
2	chr8:8455617..8458254-chr8:8522777..8525195,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11992599	1.00[ASN][1000 genomes]
rs13251924	1.00[ASN][1000 genomes]
rs13255451	1.00[ASN][1000 genomes]
rs13265046	1.00[ASN][1000 genomes]
rs13269433	1.00[ASN][1000 genomes]
rs13272624	1.00[ASN][1000 genomes]
rs13280653	1.00[ASN][1000 genomes]
rs1522840	1.00[ASN][1000 genomes]
rs17618598	1.00[ASN][1000 genomes]
rs17618723	1.00[ASN][1000 genomes]
rs17626703	1.00[ASN][1000 genomes]
rs17627019	1.00[ASN][1000 genomes]
rs17681846	1.00[ASN][1000 genomes]
rs17682402	1.00[ASN][1000 genomes]
rs2177255	1.00[ASN][1000 genomes]
rs34517137	1.00[ASN][1000 genomes]
rs34675013	1.00[ASN][1000 genomes]
rs35231847	1.00[ASN][1000 genomes]
rs35571623	1.00[ASN][1000 genomes]
rs66599721	1.00[ASN][1000 genomes]
rs6983300	1.00[ASN][1000 genomes]
rs6994016	1.00[ASN][1000 genomes]
rs7001925	1.00[ASN][1000 genomes]
rs7010670	1.00[ASN][1000 genomes]
rs71514503	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1016933	chr8:8432279-8624770	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv610180	chr8:8501230-8543324	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv890337	chr8:8517919-8542718	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1033340	chr8:8522963-8565946	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv539458	chr8:8522963-8565946	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11997261	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs11997261	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8514200-8527000	Weak transcription	Fetal Kidney	kidney
2	chr8:8521000-8524800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:8521000-8525000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:8521600-8524600	Enhancers	Fetal Brain Male	brain
5	chr8:8521600-8525000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:8522200-8527000	Weak transcription	HepG2	liver
7	chr8:8522400-8525600	Weak transcription	Fetal Lung	lung
8	chr8:8522600-8527400	Enhancers	A549	lung
9	chr8:8522800-8524600	Weak transcription	Right Atrium	heart
10	chr8:8522800-8524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:8522800-8524800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:8522800-8527000	Weak transcription	Hela-S3	cervix
13	chr8:8522800-8527200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:8522800-8528400	Weak transcription	NHLF	lung
15	chr8:8523000-8527200	Weak transcription	Osteobl	bone
16	chr8:8523200-8526800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:8523400-8524600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:8523400-8525000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:8523400-8526200	Weak transcription	NHEK	skin
20	chr8:8523600-8527000	Weak transcription	Brain Angular Gyrus	brain
21	chr8:8523600-8527200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:8523600-8527200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:8523600-8527200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:8523600-8528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:8523800-8525400	Weak transcription	HSMMtube	muscle
26	chr8:8523800-8525600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:8523800-8526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:8523800-8527200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:8523800-8528400	Weak transcription	HMEC	breast
30	chr8:8524000-8524400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:8524000-8527000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:8524000-8528400	Weak transcription	Brain Germinal Matrix	brain

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