Variant report

Variant	rs17071513
Chromosome Location	chr13:80068006-80068007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80066505..80068962-chr13:80069682..80071575,2	MCF-7	breast:
2	chr13:80063503..80065640-chr13:80065674..80068573,2	MCF-7	breast:
3	chr13:80067322..80070236-chr13:80084629..80087501,2	K562	blood:
4	chr13:80054213..80059626-chr13:80061919..80068879,9	K562	blood:

Variant related genes	Relation type
ENSG00000102471	Chromatin interaction
ENSG00000232132	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11838748	1.00[MEX][hapmap]
rs11839222	0.89[YRI][hapmap]
rs11839375	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11842488	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11843513	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17071551	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58776838	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61528458	0.87[AFR][1000 genomes];0.85[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:56 , 50 per page) page: 1 2

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	chr13:80059600-80068800	Weak transcription	Brain Substantia Nigra	brain
4	chr13:80060000-80075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr13:80061200-80071200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:80062000-80075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr13:80063400-80077200	Weak transcription	K562	blood
8	chr13:80064600-80069000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:80064600-80069000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:80064800-80069000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:80064800-80069000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr13:80064800-80069800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
14	chr13:80065000-80068400	Flanking Active TSS	Dnd41	blood
15	chr13:80065000-80068800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:80065400-80068400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr13:80066400-80069400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr13:80066600-80068600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:80066600-80069000	Enhancers	Brain Angular Gyrus	brain
20	chr13:80066600-80069200	Flanking Active TSS	NHEK	skin
21	chr13:80066800-80068200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr13:80066800-80068800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:80066800-80068800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:80066800-80068800	Enhancers	Liver	Liver
25	chr13:80066800-80071400	Weak transcription	Stomach Mucosa	stomach
26	chr13:80066800-80073000	Weak transcription	Aorta	Aorta
27	chr13:80066800-80084000	Weak transcription	Pancreas	Pancrea
28	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
29	chr13:80067000-80069400	Weak transcription	Colon Smooth Muscle	Colon
30	chr13:80067000-80069800	Weak transcription	GM12878-XiMat	blood
31	chr13:80067000-80071200	Weak transcription	Psoas Muscle	Psoas
32	chr13:80067000-80071400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr13:80067200-80071000	Enhancers	Hela-S3	cervix
34	chr13:80067200-80095000	Weak transcription	HSMM	muscle
35	chr13:80067400-80069000	Weak transcription	HSMMtube	muscle
36	chr13:80067400-80071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr13:80067400-80079400	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:80067600-80071200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr13:80067600-80071400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:80067600-80071400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr13:80067600-80077400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:80067800-80068600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr13:80067800-80068800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr13:80067800-80068800	Weak transcription	A549	lung
45	chr13:80067800-80069000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr13:80067800-80070200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr13:80067800-80071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:80067800-80071200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr13:80067800-80071400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr13:80067800-80076000	Weak transcription	Fetal Heart	heart

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