Variant report

Variant	rs9545127
Chromosome Location	chr13:80070287-80070288
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80062181..80064765-chr13:80069081..80070994,2	K562	blood:
2	chr13:80066505..80068962-chr13:80069682..80071575,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11549502	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11619563	0.94[AMR][1000 genomes]
rs11838769	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11839222	0.91[CEU][hapmap]
rs12146935	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs17431002	0.81[EUR][1000 genomes]
rs4884132	0.97[EUR][1000 genomes]
rs4885635	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4885639	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4885641	0.81[EUR][1000 genomes]
rs73234683	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73234690	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73235960	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7399942	0.82[EUR][1000 genomes]
rs7983288	0.94[EUR][1000 genomes]
rs7983516	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7987442	1.00[YRI][hapmap]
rs7990729	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7991663	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8000301	0.80[TSI][hapmap]
rs9530926	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530927	0.85[CEU][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9530932	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9530933	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9530935	0.82[EUR][1000 genomes]
rs9530936	0.81[EUR][1000 genomes]
rs9545077	0.84[GIH][hapmap]
rs9545088	0.84[GIH][hapmap]
rs9545115	0.94[AMR][1000 genomes]
rs9545119	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9545126	0.85[CEU][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545129	0.85[CEU][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545130	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9545132	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545140	0.82[EUR][1000 genomes]
rs9545141	0.82[EUR][1000 genomes]
rs9545143	0.81[EUR][1000 genomes]
rs9545144	0.82[EUR][1000 genomes]
rs958316	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs983927	0.94[AFR][1000 genomes];0.94[AMR][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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
2	chr13:80059000-80077200	Weak transcription	Small Intestine	intestine
3	chr13:80060000-80075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:80061200-80071200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:80062000-80075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:80063400-80077200	Weak transcription	K562	blood
7	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
8	chr13:80066800-80071400	Weak transcription	Stomach Mucosa	stomach
9	chr13:80066800-80073000	Weak transcription	Aorta	Aorta
10	chr13:80066800-80084000	Weak transcription	Pancreas	Pancrea
11	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
12	chr13:80067000-80071200	Weak transcription	Psoas Muscle	Psoas
13	chr13:80067000-80071400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr13:80067200-80071000	Enhancers	Hela-S3	cervix
15	chr13:80067200-80095000	Weak transcription	HSMM	muscle
16	chr13:80067400-80071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:80067400-80079400	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:80067600-80071200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr13:80067600-80071400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:80067600-80071400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr13:80067600-80077400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:80067800-80071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:80067800-80071200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr13:80067800-80071400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr13:80067800-80076000	Weak transcription	Fetal Heart	heart
26	chr13:80068000-80071200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr13:80068000-80071200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:80068000-80071200	Weak transcription	HMEC	breast
29	chr13:80068000-80071400	Weak transcription	Right Atrium	heart
30	chr13:80068400-80071000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr13:80068800-80072000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:80068800-80077200	Weak transcription	Liver	Liver
33	chr13:80069000-80070400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr13:80069000-80070600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr13:80069000-80071200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:80069000-80071200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr13:80069000-80071200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr13:80069000-80071200	Enhancers	Dnd41	blood
39	chr13:80069000-80077400	Weak transcription	Brain Angular Gyrus	brain
40	chr13:80069200-80070400	Enhancers	NHEK	skin
41	chr13:80069600-80070600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:80069800-80071000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:80069800-80071600	Enhancers	GM12878-XiMat	blood
44	chr13:80070000-80070400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:80070200-80071200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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