Variant report

Variant	rs13270337
Chromosome Location	chr8:90730358-90730359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90729414..90732733-chr8:91011369..91014401,3	MCF-7	breast:
2	chr8:90728421..90731322-chr8:90768426..90770911,3	MCF-7	breast:
3	chr8:90730221..90731273-chr8:91007539..91008842,5	MCF-7	breast:
4	chr8:90728791..90734507-chr8:90768671..90772991,6	MCF-7	breast:
5	chr8:90730206..90731189-chr8:90996034..90997277,6	MCF-7	breast:
6	chr8:90730227..90732540-chr8:90735572..90739536,4	MCF-7	breast:
7	chr8:90727781..90733734-chr8:90995200..90998684,11	MCF-7	breast:
8	chr8:90730098..90733347-chr8:90733512..90737608,4	MCF-7	breast:
9	chr8:90727118..90729538-chr8:90730165..90731877,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBN-1	chr8:90729627-90733428	ENSG00000251136

No data

Variant related genes	Relation type
ENSG00000104325	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11995065	1.00[ASN][1000 genomes]
rs13250228	1.00[ASN][1000 genomes]
rs13256893	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13262484	1.00[ASN][1000 genomes]
rs13265005	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267411	1.00[ASN][1000 genomes]
rs13274661	0.84[EUR][1000 genomes]
rs13281958	1.00[ASN][1000 genomes]
rs2230801	1.00[ASN][1000 genomes]
rs34038516	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34099903	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34211510	1.00[ASN][1000 genomes]
rs34541191	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35168775	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353289	1.00[ASN][1000 genomes]
rs35469651	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35489404	0.81[EUR][1000 genomes]
rs35598276	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35643733	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35741091	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35976220	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36032938	1.00[ASN][1000 genomes]
rs36139021	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532080	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532117	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62533561	0.92[ASN][1000 genomes]
rs6991439	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6998924	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833230	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841459	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90710200-90730400	Weak transcription	A549	lung
2	chr8:90710200-90731200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:90710200-90736200	Weak transcription	Adipose Nuclei	Adipose
4	chr8:90711200-90733800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
6	chr8:90713400-90738000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
8	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
9	chr8:90714400-90741000	Weak transcription	Gastric	stomach
10	chr8:90714800-90733000	Weak transcription	Placenta	Placenta
11	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:90716800-90738000	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:90717200-90733400	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:90717200-90741000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:90717400-90738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:90717600-90733400	Weak transcription	Aorta	Aorta
17	chr8:90717600-90733800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:90717800-90731200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:90717800-90736200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:90717800-90737800	Weak transcription	NHEK	skin
21	chr8:90717800-90738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:90717800-90738000	Weak transcription	NH-A	brain
23	chr8:90717800-90747800	Weak transcription	Ovary	ovary
24	chr8:90718200-90731000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:90719400-90730800	Weak transcription	HSMM	muscle
26	chr8:90720800-90736000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
28	chr8:90721000-90740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:90721200-90736400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:90721400-90731000	Weak transcription	Fetal Intestine Small	intestine
31	chr8:90721400-90735600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:90721400-90740400	Weak transcription	Fetal Intestine Large	intestine
33	chr8:90721800-90733400	Weak transcription	Fetal Stomach	stomach
34	chr8:90721800-90738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:90724000-90731000	Weak transcription	NHDF-Ad	bronchial
36	chr8:90725200-90736200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:90725200-90740400	Weak transcription	Small Intestine	intestine
38	chr8:90725600-90731200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:90726600-90741400	Weak transcription	Esophagus	oesophagus
40	chr8:90726800-90738200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:90728400-90738000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:90729000-90731800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:90729200-90731000	Enhancers	K562	blood
44	chr8:90729200-90737800	Weak transcription	Fetal Heart	heart
45	chr8:90729400-90733600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:90729400-90733800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:90729600-90733800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:90729800-90730400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:90729800-90730400	Enhancers	Right Atrium	heart
50	chr8:90729800-90730800	Weak transcription	GM12878-XiMat	blood

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