Variant report

Variant	rs10865346
Chromosome Location	chr2:64586858-64586859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64584849..64587757-chr2:64625757..64628031,2	MCF-7	breast:
2	chr2:64582213..64584164-chr2:64584374..64587054,2	K562	blood:
3	chr2:64586292..64588331-chr2:64589357..64592036,2	K562	blood:
4	chr2:64586053..64589004-chr2:64618647..64620148,2	MCF-7	breast:
5	chr2:64580653..64583828-chr2:64584436..64587337,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12473206	1.00[CHB][hapmap]
rs12477412	1.00[CHB][hapmap]
rs2059631	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4233931	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671087	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
5	nsv874238	chr2:64575738-64614241	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10865346	TMEM17	cis	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64585400-64589800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:64585800-64587400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:64586000-64591200	Enhancers	Esophagus	oesophagus
4	chr2:64586000-64591400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:64586200-64587800	Enhancers	NH-A	brain
6	chr2:64586200-64588200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:64586400-64587000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:64586400-64587400	Enhancers	GM12878-XiMat	blood
9	chr2:64586400-64587600	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:64586400-64587800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:64586400-64587800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:64586400-64587800	Enhancers	NHLF	lung
13	chr2:64586400-64591000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:64586600-64587000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:64586600-64587000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:64586600-64587000	Enhancers	A549	lung
17	chr2:64586600-64587200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:64586600-64587200	Flanking Active TSS	NHDF-Ad	bronchial
19	chr2:64586600-64587400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:64586600-64587600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:64586600-64587600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:64586600-64587600	Enhancers	Fetal Lung	lung
23	chr2:64586600-64587600	Enhancers	Lung	lung
24	chr2:64586600-64587800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:64586600-64587800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:64586600-64587800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:64586600-64587800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:64586600-64587800	Enhancers	HSMMtube	muscle
29	chr2:64586600-64587800	Enhancers	Osteobl	bone
30	chr2:64586600-64588000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:64586600-64588000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr2:64586600-64588000	Enhancers	HSMM	muscle
33	chr2:64586600-64588200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:64586600-64589600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:64586600-64592800	Enhancers	Pancreas	Pancrea
36	chr2:64586800-64587000	Enhancers	Colonic Mucosa	Colon
37	chr2:64586800-64587000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr2:64586800-64587200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:64586800-64587200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:64586800-64587200	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr2:64586800-64587200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr2:64586800-64587200	Flanking Active TSS	Stomach Mucosa	stomach
43	chr2:64586800-64587200	Flanking Active TSS	HMEC	breast
44	chr2:64586800-64587200	Flanking Active TSS	NHEK	skin
45	chr2:64586800-64587400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:64586800-64587400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:64586800-64587400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:64586800-64587400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr2:64586800-64587600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:64586800-64587600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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