Variant report

Variant	rs1964509
Chromosome Location	chr17:33901168-33901169
allele	C/T
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	POLR2A	chr17:33901087-33901179	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33893761..33897248-chr17:33899377..33902990,5	MCF-7	breast:

Variant related genes	Relation type
AP2B1	TF binding region
ENSG00000267321	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1037591	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491114	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10491115	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11870399	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11870475	0.87[AMR][1000 genomes]
rs12449919	0.84[ASN][1000 genomes]
rs12450039	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12452633	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12452961	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12600662	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12603142	0.89[ASN][1000 genomes]
rs16971117	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16971122	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs226433	0.84[ASN][1000 genomes]
rs226435	0.84[ASN][1000 genomes]
rs226436	0.84[ASN][1000 genomes]
rs226437	0.84[ASN][1000 genomes]
rs2278950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301731	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2428463	0.84[ASN][1000 genomes]
rs2523115	0.84[ASN][1000 genomes]
rs28361509	0.89[AFR][1000 genomes]
rs28384428	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28384429	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28661650	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3760325	0.84[ASN][1000 genomes]
rs3785759	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3785763	0.89[ASN][1000 genomes]
rs62079728	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7211363	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9303689	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9891317	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9904644	0.91[AFR][1000 genomes]
rs9904957	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9906037	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9914730	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9916483	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33895800-33904200	Weak transcription	Right Atrium	heart
2	chr17:33895800-33904800	Weak transcription	Ovary	ovary
3	chr17:33896000-33902200	Weak transcription	HSMMtube	muscle
4	chr17:33896000-33903800	Weak transcription	Brain Angular Gyrus	brain
5	chr17:33896000-33904800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:33896200-33905000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:33896200-33905000	Weak transcription	Aorta	Aorta
8	chr17:33896400-33901200	Weak transcription	Placenta	Placenta
9	chr17:33896400-33901600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr17:33896400-33902000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr17:33896400-33904000	Weak transcription	Colon Smooth Muscle	Colon
12	chr17:33896400-33904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:33896400-33904200	Weak transcription	Psoas Muscle	Psoas
14	chr17:33896400-33904600	Weak transcription	Stomach Mucosa	stomach
15	chr17:33896400-33904800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:33896400-33904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:33896400-33904800	Weak transcription	Colonic Mucosa	Colon
18	chr17:33896400-33904800	Weak transcription	Esophagus	oesophagus
19	chr17:33896400-33904800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr17:33896400-33904800	Weak transcription	Right Ventricle	heart
21	chr17:33896400-33905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:33896400-33905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:33896600-33904400	Weak transcription	Brain Substantia Nigra	brain
24	chr17:33896800-33901400	Weak transcription	Primary B cells from cord blood	blood
25	chr17:33896800-33902400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr17:33896800-33903600	Weak transcription	NH-A	brain
27	chr17:33896800-33904000	Weak transcription	Pancreas	Pancrea
28	chr17:33896800-33904000	Weak transcription	Osteobl	bone
29	chr17:33896800-33904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr17:33897000-33901200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr17:33897000-33902000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:33897000-33902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr17:33897000-33904400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr17:33897400-33901400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:33897400-33902000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr17:33897400-33902000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr17:33897400-33902000	Weak transcription	HMEC	breast
38	chr17:33897400-33904000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:33897600-33901600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:33897600-33901600	Weak transcription	Adipose Nuclei	Adipose
41	chr17:33897600-33901600	Weak transcription	NHDF-Ad	bronchial
42	chr17:33897600-33902000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:33897600-33902000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr17:33897600-33902000	Weak transcription	NHLF	lung
45	chr17:33897600-33902200	Weak transcription	Fetal Brain Female	brain
46	chr17:33897600-33902600	Weak transcription	Brain Anterior Caudate	brain
47	chr17:33897600-33902800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:33897600-33902800	Weak transcription	Brain Hippocampus Middle	brain
49	chr17:33897600-33904400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr17:33897600-33904400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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