Variant report

Variant	rs17054829
Chromosome Location	chr13:37618350-37618351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:37615714..37619674-chr13:37631540..37634890,3	MCF-7	breast:
2	chr13:37573255..37575883-chr13:37618152..37622818,4	MCF-7	breast:
3	chr13:37573119..37574773-chr13:37617793..37620250,2	K562	blood:

Variant related genes	Relation type
ENSG00000102710	Chromatin interaction
ENSG00000120699	Chromatin interaction
ENSG00000120697	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10507444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1199997	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199998	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200000	1.00[ASN][1000 genomes]
rs1200001	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200002	1.00[ASN][1000 genomes]
rs1200003	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336165	1.00[ASN][1000 genomes]
rs17054770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs17054775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17054789	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17054790	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs17054792	0.95[AFR][1000 genomes]
rs17054835	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs17054838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054925	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054972	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924421	1.00[ASN][1000 genomes]
rs2181788	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2769542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap]
rs4624036	1.00[ASN][1000 genomes]
rs57719094	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59899061	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59901477	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608385	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6563506	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs73533924	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543820	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74045176	0.95[AFR][1000 genomes]
rs7986414	0.84[EUR][1000 genomes]
rs7991565	0.84[EUR][1000 genomes]
rs8001410	1.00[ASN][1000 genomes]
rs9315475	1.00[CHB][hapmap]
rs9547703	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9547704	1.00[CHB][hapmap]
rs9594177	0.84[AFR][1000 genomes]
rs9594184	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs9603124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9603150	1.00[CHB][hapmap];1.00[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37575400-37631200	Weak transcription	Stomach Mucosa	stomach
2	chr13:37576200-37623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:37576400-37618800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:37576400-37623800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr13:37576600-37623000	Strong transcription	Liver	Liver
6	chr13:37576600-37625800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr13:37576800-37621200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr13:37576800-37623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr13:37577000-37623000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:37577000-37623400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr13:37577000-37624400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr13:37577200-37623200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr13:37577200-37625200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:37577200-37625800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr13:37577200-37625800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr13:37577600-37623600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr13:37581800-37622800	Strong transcription	Dnd41	blood
18	chr13:37583000-37622800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:37583000-37623400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:37583200-37622600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr13:37586800-37623400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr13:37587000-37622200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr13:37587800-37622600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr13:37588400-37622400	Strong transcription	Adipose Nuclei	Adipose
25	chr13:37588600-37619600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:37589200-37625800	Strong transcription	Fetal Thymus	thymus
27	chr13:37589400-37622600	Strong transcription	Placenta	Placenta
28	chr13:37589600-37623800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr13:37592200-37622600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr13:37592400-37619400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr13:37594600-37622400	Strong transcription	Primary B cells from cord blood	blood
32	chr13:37599600-37623000	Strong transcription	HSMM	muscle
33	chr13:37601800-37625200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:37602200-37621600	Strong transcription	Primary T cells from cord blood	blood
35	chr13:37602600-37621000	Strong transcription	Fetal Intestine Large	intestine
36	chr13:37602800-37622200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr13:37604200-37623600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:37604400-37622200	Strong transcription	NH-A	brain
39	chr13:37604400-37622800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:37604800-37622800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr13:37604800-37623600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:37605000-37622800	Strong transcription	Osteobl	bone
43	chr13:37605800-37618600	Strong transcription	Brain Anterior Caudate	brain
44	chr13:37606800-37632400	Weak transcription	Hela-S3	cervix
45	chr13:37607800-37631000	Weak transcription	Pancreas	Pancrea
46	chr13:37608400-37624000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:37608800-37631800	Weak transcription	Psoas Muscle	Psoas
48	chr13:37609600-37619400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr13:37609600-37622600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:37609800-37618600	Weak transcription	Fetal Heart	heart

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