Variant report

Variant	rs6485718
Chromosome Location	chr11:47003987-47003988
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	chr11:47002891..47005569-chr11:47007322..47009966,3	MCF-7	breast:
2	chr11:47002186..47004329-chr11:47006169..47008025,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10838638	0.86[YRI][hapmap];0.90[AMR][1000 genomes]
rs11039048	0.90[AMR][1000 genomes]
rs11488791	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12224831	0.90[AMR][1000 genomes]
rs12273333	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274845	0.83[ASW][hapmap];0.87[MKK][hapmap];0.89[AMR][1000 genomes]
rs12280455	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290283	0.83[AMR][1000 genomes]
rs12291377	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2035067	0.88[ASW][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes]
rs4752814	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57683872	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59520560	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60741480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485713	0.88[ASW][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7117243	0.89[AMR][1000 genomes]
rs7117590	0.83[ASW][hapmap];0.87[MKK][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7123059	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73462027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7935192	0.83[ASW][hapmap];0.87[MKK][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7940468	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7944021	0.89[AMR][1000 genomes]
rs7945052	0.89[AMR][1000 genomes]
rs9804415	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971621	0.89[AMR][1000 genomes]

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	esv1805201	chr11:46971012-47063429	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1819852	chr11:46971012-47064542	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6485718	ACP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46971600-47006600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:46974200-47008400	Weak transcription	Primary T cells from cord blood	blood
3	chr11:46980600-47014000	Weak transcription	Aorta	Aorta
4	chr11:46980600-47021000	Weak transcription	Ovary	ovary
5	chr11:46980600-47026000	Weak transcription	HSMM	muscle
6	chr11:46981200-47023400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:46983000-47024000	Weak transcription	Primary B cells from cord blood	blood
8	chr11:46989200-47026000	Weak transcription	Dnd41	blood
9	chr11:46994000-47026000	Weak transcription	Colonic Mucosa	Colon
10	chr11:46994200-47004800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:46994200-47021000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:46994400-47014800	Weak transcription	Esophagus	oesophagus
13	chr11:46995400-47004400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:46996000-47006600	Weak transcription	Fetal Intestine Small	intestine
15	chr11:46996000-47011400	Weak transcription	Pancreas	Pancrea
16	chr11:46996000-47025800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:46998800-47004800	Weak transcription	Fetal Intestine Large	intestine
18	chr11:46998800-47023200	Weak transcription	Fetal Brain Male	brain
19	chr11:46999000-47005000	Weak transcription	Small Intestine	intestine
20	chr11:46999000-47010600	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:46999000-47019400	Weak transcription	Fetal Stomach	stomach
22	chr11:46999200-47010000	Weak transcription	Fetal Brain Female	brain
23	chr11:46999600-47011000	Weak transcription	Fetal Lung	lung
24	chr11:46999600-47013000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:46999600-47023600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:46999800-47005200	Weak transcription	Stomach Mucosa	stomach
27	chr11:46999800-47005400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:47000000-47004800	Weak transcription	K562	blood
29	chr11:47000000-47008400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:47000000-47008400	Weak transcription	Brain Germinal Matrix	brain
31	chr11:47000000-47008600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:47000000-47010800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:47000000-47011200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:47000000-47012800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:47000000-47024600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:47000200-47008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:47000200-47025200	Weak transcription	NH-A	brain
38	chr11:47000200-47026400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:47000400-47004800	Weak transcription	HepG2	liver
40	chr11:47000400-47005400	Weak transcription	A549	lung
41	chr11:47000400-47006200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:47000400-47012000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:47000400-47012600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:47000400-47012800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:47000400-47023400	Weak transcription	Osteobl	bone
46	chr11:47000400-47024600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:47000400-47026600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:47000600-47012600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:47000800-47006600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:47000800-47008400	Weak transcription	Primary hematopoietic stem cells	blood

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