Variant report

Variant	rs7169518
Chromosome Location	chr15:40519008-40519009
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40512180..40515201-chr15:40516014..40519122,3	K562	blood:
2	chr15:40517158..40519371-chr15:40520994..40522922,2	K562	blood:
3	chr15:40518528..40520573-chr15:40531819..40534123,2	MCF-7	breast:
4	chr15:40512621..40515097-chr15:40517622..40521894,3	K562	blood:

Variant related genes	Relation type
ENSG00000137843	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10518682	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11632939	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11636402	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11638942	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12438986	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12911157	0.85[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12915249	0.90[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1801376	0.85[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2277559	0.83[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2412482	0.90[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3214012	0.85[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34358001	0.84[EUR][1000 genomes]
rs4923857	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4924430	0.83[EUR][1000 genomes]
rs4924432	0.87[ASN][1000 genomes]
rs492813	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs500693	0.85[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap]
rs521896	0.85[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap]
rs6492932	0.81[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6492935	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7164047	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7177759	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs797420	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8037190	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs811746	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40453800-40525000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:40454800-40524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:40455400-40530400	Weak transcription	Fetal Brain Female	brain
4	chr15:40455600-40522200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:40455600-40530400	Weak transcription	Brain Germinal Matrix	brain
6	chr15:40456200-40524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:40456200-40524000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:40471400-40524400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:40473600-40525200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:40475000-40526400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:40475400-40522600	Strong transcription	Dnd41	blood
12	chr15:40481800-40524400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:40483000-40526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:40485400-40527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:40486600-40521000	Weak transcription	Placenta	Placenta
16	chr15:40491000-40526600	Weak transcription	Primary B cells from cord blood	blood
17	chr15:40491200-40527200	Strong transcription	Fetal Thymus	thymus
18	chr15:40491600-40524600	Weak transcription	Fetal Heart	heart
19	chr15:40491800-40523200	Weak transcription	Esophagus	oesophagus
20	chr15:40492800-40524000	Weak transcription	Fetal Kidney	kidney
21	chr15:40492800-40530800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr15:40493400-40527000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr15:40496600-40524800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:40498800-40520600	Weak transcription	NHLF	lung
25	chr15:40502000-40521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:40503400-40526600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr15:40504400-40521600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:40504400-40526400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:40506800-40524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:40508200-40524600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:40510000-40522400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr15:40510800-40519600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr15:40511000-40521000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:40513200-40531200	Weak transcription	NHDF-Ad	bronchial
35	chr15:40513400-40530800	Weak transcription	A549	lung
36	chr15:40513600-40521400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr15:40513600-40526200	Weak transcription	HSMM	muscle
38	chr15:40514200-40526800	Weak transcription	Hela-S3	cervix
39	chr15:40514600-40519800	Weak transcription	Fetal Stomach	stomach
40	chr15:40514600-40521000	Weak transcription	NHEK	skin
41	chr15:40515400-40530600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:40515600-40523800	Weak transcription	HepG2	liver
43	chr15:40515600-40524200	Weak transcription	HMEC	breast
44	chr15:40515800-40524400	Weak transcription	Spleen	Spleen
45	chr15:40515800-40524800	Weak transcription	Fetal Lung	lung
46	chr15:40515800-40524800	Weak transcription	Stomach Mucosa	stomach
47	chr15:40516000-40519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:40516000-40519600	Weak transcription	K562	blood
49	chr15:40516000-40520400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:40516000-40524400	Weak transcription	Fetal Intestine Small	intestine

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