Variant report

Variant	rs17686852
Chromosome Location	chr17:67308196-67308197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr17:67308192-67308329	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:67305293..67307123-chr17:67307147..67309014,2	MCF-7	breast:
2	chr17:67307812..67310320-chr17:67310542..67312902,2	MCF-7	breast:
3	chr17:67306645..67309454-chr17:67315201..67317494,2	MCF-7	breast:
4	chr17:67307415..67308999-chr17:67312227..67313741,2	MCF-7	breast:

Variant related genes	Relation type
ABCA5	TF binding region
ENSG00000154265	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs112914	0.90[YRI][hapmap]
rs1420904	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9302891	0.88[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1063768	chr17:67268342-67311136	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv1799828	chr17:67280310-67309039	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	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
11	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17686852	FRMD8	trans	cerebellum	SCAN
rs17686852	KCNJ2	cis	parietal	SCAN
rs17686852	GH2	cis	cerebellum	SCAN

Chromatin state (count:64 , 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	chr17:67266200-67310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:67276400-67310600	Weak transcription	Brain Substantia Nigra	brain
5	chr17:67276600-67308800	Weak transcription	Aorta	Aorta
6	chr17:67283800-67312800	Weak transcription	HMEC	breast
7	chr17:67284000-67312800	Weak transcription	NHEK	skin
8	chr17:67284600-67309200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:67285000-67316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:67289600-67310400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr17:67289800-67310400	Weak transcription	Brain Anterior Caudate	brain
12	chr17:67289800-67310800	Weak transcription	Colon Smooth Muscle	Colon
13	chr17:67289800-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:67290000-67308200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr17:67290000-67310600	Weak transcription	Brain Angular Gyrus	brain
16	chr17:67290000-67311000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr17:67290000-67311000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr17:67290000-67317400	Weak transcription	Gastric	stomach
19	chr17:67290200-67319600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr17:67290600-67309200	Weak transcription	Lung	lung
21	chr17:67290600-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:67291800-67309400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:67291800-67313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr17:67291800-67321800	Weak transcription	Esophagus	oesophagus
25	chr17:67293200-67315600	Weak transcription	GM12878-XiMat	blood
26	chr17:67294000-67310600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr17:67296600-67310600	Weak transcription	Ovary	ovary
28	chr17:67296800-67308800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:67297000-67310600	Weak transcription	Fetal Kidney	kidney
30	chr17:67297000-67319400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:67297000-67321800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr17:67302600-67308600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:67303800-67310800	Weak transcription	HepG2	liver
34	chr17:67304000-67310600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr17:67304200-67321800	Weak transcription	HUVEC	blood vessel
36	chr17:67304400-67309600	Weak transcription	Fetal Stomach	stomach
37	chr17:67305200-67321600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:67305400-67308200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr17:67305600-67313000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:67305800-67309800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr17:67306000-67321800	Weak transcription	Placenta	Placenta
42	chr17:67306200-67312800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:67306400-67309800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:67306400-67310600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:67306400-67321000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr17:67306600-67308600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr17:67306600-67309200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:67306600-67319600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:67306800-67310800	Weak transcription	Pancreas	Pancrea
50	chr17:67307000-67321800	Weak transcription	Left Ventricle	heart

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