Variant report

Variant	rs16965857
Chromosome Location	chr17:38668158-38668159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38632026..38634246-chr17:38667169..38669339,2	K562	blood:
2	chr17:38666195..38668394-chr17:38679733..38682275,2	MCF-7	breast:
3	chr17:38657489..38659428-chr17:38666423..38668679,2	K562	blood:
4	chr17:38653905..38655672-chr17:38666687..38669670,2	MCF-7	breast:
5	chr17:38525489..38527543-chr17:38668020..38669754,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131746	Chromatin interaction
ENSG00000266088	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1072070	0.87[EUR][1000 genomes]
rs11871009	1.00[EUR][1000 genomes]
rs16965864	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28485796	1.00[EUR][1000 genomes]
rs3866675	1.00[EUR][1000 genomes]
rs56151683	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7208120	1.00[EUR][1000 genomes]
rs7217539	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7222478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064741	1.00[EUR][1000 genomes]
rs8064890	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8065657	1.00[EUR][1000 genomes]
rs9894865	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899509	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909468	1.00[EUR][1000 genomes]
rs9910719	1.00[EUR][1000 genomes]
rs9915820	1.00[EUR][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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38656800-38668400	Weak transcription	Gastric	stomach
2	chr17:38665200-38669000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:38665800-38668600	Enhancers	Psoas Muscle	Psoas
4	chr17:38665800-38670200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr17:38666000-38668200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr17:38666000-38668200	Bivalent Enhancer	HepG2	liver
7	chr17:38666000-38668800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr17:38666000-38669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:38666000-38669000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:38666000-38669000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr17:38666000-38669600	Enhancers	NH-A	brain
12	chr17:38666000-38670200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:38666200-38669000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr17:38666200-38670000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:38666200-38670600	Enhancers	Placenta	Placenta
16	chr17:38666400-38669000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr17:38666400-38669000	Enhancers	HSMM	muscle
18	chr17:38666400-38669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr17:38666600-38668200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:38666600-38668800	Enhancers	Osteobl	bone
21	chr17:38666600-38669000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:38666600-38669000	Enhancers	HMEC	breast
23	chr17:38666600-38669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:38666600-38670200	Enhancers	NHEK	skin
25	chr17:38666800-38668200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:38666800-38668400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:38666800-38670400	Weak transcription	Spleen	Spleen
28	chr17:38666800-38670600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr17:38666800-38671400	Weak transcription	Left Ventricle	heart
30	chr17:38666800-38674400	Weak transcription	Pancreas	Pancrea
31	chr17:38666800-38675000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:38666800-38677400	Weak transcription	Right Atrium	heart
33	chr17:38667000-38668400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:38667000-38673000	Enhancers	A549	lung
35	chr17:38667200-38668400	Enhancers	Colon Smooth Muscle	Colon
36	chr17:38667200-38668800	Enhancers	HSMMtube	muscle
37	chr17:38667200-38669000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:38667400-38668200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr17:38667400-38669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr17:38667400-38673000	Weak transcription	Esophagus	oesophagus
41	chr17:38667800-38668400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:38667800-38668400	Enhancers	Fetal Muscle Leg	muscle
43	chr17:38667800-38668600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr17:38667800-38669000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:38667800-38669000	Enhancers	NHLF	lung
46	chr17:38668000-38668400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:38668000-38668400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:38668000-38668400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr17:38668000-38668400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:38668000-38668800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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