Variant report

Variant	rs9908248
Chromosome Location	chr17:67311800-67311801
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16973883	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16973905	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17776943	0.81[AMR][1000 genomes]
rs28496489	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28592152	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4553686	0.95[EUR][1000 genomes]
rs4968854	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58324131	0.81[AMR][1000 genomes]
rs7208451	0.90[EUR][1000 genomes]
rs7225918	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73998226	0.81[EUR][1000 genomes]
rs9302899	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889277	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9910364	0.95[EUR][1000 genomes]
rs9912665	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv575935	chr17:67256162-67327806	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	nsv457890	chr17:67264339-67327806	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	nsv575936	chr17:67264339-67327806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv908706	chr17:67290840-67332355	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
9	nsv575937	chr17:67304447-67327806	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
2	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:67283800-67312800	Weak transcription	HMEC	breast
4	chr17:67284000-67312800	Weak transcription	NHEK	skin
5	chr17:67285000-67316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:67289800-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:67290000-67317400	Weak transcription	Gastric	stomach
8	chr17:67290200-67319600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:67290600-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:67291800-67313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr17:67291800-67321800	Weak transcription	Esophagus	oesophagus
12	chr17:67293200-67315600	Weak transcription	GM12878-XiMat	blood
13	chr17:67297000-67319400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:67297000-67321800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr17:67304200-67321800	Weak transcription	HUVEC	blood vessel
16	chr17:67305200-67321600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:67305600-67313000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:67306000-67321800	Weak transcription	Placenta	Placenta
19	chr17:67306200-67312800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:67306400-67321000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr17:67306600-67319600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:67307000-67321800	Weak transcription	Left Ventricle	heart
23	chr17:67307000-67321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:67307200-67313600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr17:67307200-67318800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr17:67307200-67319000	Weak transcription	Fetal Intestine Large	intestine
27	chr17:67307200-67321800	Weak transcription	Thymus	Thymus
28	chr17:67307600-67316000	Weak transcription	NHDF-Ad	bronchial
29	chr17:67308000-67321200	Weak transcription	Fetal Intestine Small	intestine
30	chr17:67310200-67321000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr17:67310800-67316200	Weak transcription	Osteobl	bone
32	chr17:67311000-67315200	Weak transcription	Liver	Liver
33	chr17:67311000-67315600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:67311000-67315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr17:67311000-67316400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr17:67311000-67322000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:67311200-67313000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr17:67311200-67315800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr17:67311200-67319000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:67311200-67319400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:67311200-67320400	Weak transcription	Pancreas	Pancrea
42	chr17:67311200-67320400	Weak transcription	Psoas Muscle	Psoas
43	chr17:67311200-67321800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr17:67311200-67322000	Weak transcription	Brain Anterior Caudate	brain
45	chr17:67311400-67311800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:67311400-67311800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr17:67311400-67312800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:67311400-67313000	Weak transcription	Adipose Nuclei	Adipose
49	chr17:67311400-67315000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr17:67311400-67316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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