Variant report

Variant	rs17071512
Chromosome Location	chr13:80062017-80062018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80053858..80056756-chr13:80060556..80063243,3	MCF-7	breast:
2	chr13:80061240..80063310-chr13:80064486..80066624,3	K562	blood:
3	chr13:80060446..80062114-chr13:80062702..80064410,2	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: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1475797	1.00[YRI][hapmap]
rs1577416	1.00[YRI][hapmap]
rs17071545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2760105	1.00[YRI][hapmap]
rs2783119	1.00[YRI][hapmap]
rs3742119	1.00[YRI][hapmap]
rs3903388	1.00[YRI][hapmap]
rs61342959	0.84[AMR][1000 genomes]
rs73234699	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7338530	1.00[YRI][hapmap]
rs9318626	1.00[YRI][hapmap]
rs9318627	1.00[YRI][hapmap]
rs9545087	1.00[YRI][hapmap]
rs9545097	1.00[YRI][hapmap]
rs9545101	1.00[YRI][hapmap]
rs9574413	1.00[YRI][hapmap]
rs9574422	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80056200-80063200	Weak transcription	Left Ventricle	heart
2	chr13:80056200-80066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:80056200-80066600	Weak transcription	Psoas Muscle	Psoas
4	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
5	chr13:80056600-80064200	Weak transcription	Placenta	Placenta
6	chr13:80056800-80064000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:80056800-80064400	Weak transcription	Fetal Stomach	stomach
8	chr13:80056800-80065800	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:80057000-80063600	Weak transcription	Right Atrium	heart
10	chr13:80057000-80066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:80057400-80063400	Weak transcription	GM12878-XiMat	blood
12	chr13:80057400-80064600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:80057600-80065400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr13:80057600-80065600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:80057800-80064600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:80057800-80064600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr13:80058000-80065400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr13:80058400-80062600	Enhancers	Fetal Intestine Small	intestine
19	chr13:80058600-80065800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:80059000-80077200	Weak transcription	Small Intestine	intestine
21	chr13:80059400-80062200	Enhancers	Liver	Liver
22	chr13:80059400-80064800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:80059400-80066400	Weak transcription	Fetal Thymus	thymus
24	chr13:80059600-80063200	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:80059600-80063200	Weak transcription	Pancreas	Pancrea
26	chr13:80059600-80064200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:80059600-80064200	Weak transcription	Esophagus	oesophagus
28	chr13:80059600-80064200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:80059600-80064600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr13:80059600-80064600	Weak transcription	Colon Smooth Muscle	Colon
31	chr13:80059600-80066200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:80059600-80066600	Weak transcription	Brain Angular Gyrus	brain
33	chr13:80059600-80068800	Weak transcription	Brain Substantia Nigra	brain
34	chr13:80059800-80062200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:80059800-80062600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr13:80059800-80063000	Weak transcription	K562	blood
37	chr13:80059800-80064200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:80059800-80064400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:80059800-80064400	Weak transcription	Fetal Lung	lung
40	chr13:80059800-80065400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr13:80059800-80065800	Weak transcription	Brain Anterior Caudate	brain
42	chr13:80060000-80063400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:80060000-80063600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr13:80060000-80065400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr13:80060000-80065400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:80060000-80075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr13:80060200-80064200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:80060200-80064400	Weak transcription	NHLF	lung
49	chr13:80060200-80064600	Weak transcription	HSMMtube	muscle
50	chr13:80060200-80064600	Weak transcription	NH-A	brain

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