Variant report

Variant	rs12946114
Chromosome Location	chr17:20943869-20943870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20943721..20945424-chr17:21006912..21008982,2	K562	blood:
2	chr17:20943445..20945736-chr17:21186305..21189168,3	K562	blood:
3	chr17:20923120..20926842-chr17:20942462..20946048,5	K562	blood:
4	chr17:20922289..20926435-chr17:20942892..20947042,7	MCF-7	breast:
5	chr17:20923333..20926205-chr17:20942462..20944595,2	K562	blood:
6	chr17:20943591..20944102-chr17:21002753..21003363,2	MCF-7	breast:
7	chr17:20942946..20947008-chr17:21027887..21030893,3	K562	blood:

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction
ENSG00000109016	Chromatin interaction
ENSG00000034152	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1045162	0.85[ASN][1000 genomes]
rs1127814	0.85[ASN][1000 genomes]
rs12602058	0.81[ASN][1000 genomes]
rs12943067	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1531566	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17770614	0.88[ASN][1000 genomes]
rs1871276	0.85[EUR][1000 genomes]
rs2054464	0.88[ASN][1000 genomes]
rs2127095	0.88[ASN][1000 genomes]
rs2291034	0.86[ASN][1000 genomes]
rs2364326	0.90[ASN][1000 genomes]
rs4445951	0.86[ASN][1000 genomes]
rs4985814	0.84[ASN][1000 genomes]
rs4985815	0.82[ASN][1000 genomes]
rs4985816	0.84[ASN][1000 genomes]
rs4985827	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985959	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985963	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985966	0.85[ASN][1000 genomes]
rs4985967	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4985968	0.87[ASN][1000 genomes]
rs4985969	0.87[ASN][1000 genomes]
rs4985970	0.87[ASN][1000 genomes]
rs4985971	0.87[ASN][1000 genomes]
rs56323013	0.84[ASN][1000 genomes]
rs58235085	0.90[ASN][1000 genomes]
rs59543297	0.89[ASN][1000 genomes]
rs59713572	0.81[ASN][1000 genomes]
rs6587111	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587114	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6618	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719093	0.88[ASN][1000 genomes]
rs7207753	0.82[AFR][1000 genomes]
rs7209129	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7213684	0.82[AFR][1000 genomes]
rs7216921	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7226229	0.87[AFR][1000 genomes]
rs899340	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs899341	0.88[AFR][1000 genomes]
rs9895277	0.90[AFR][1000 genomes]
rs9911289	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[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	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv827918	chr17:20941127-20951156	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv827921	chr17:20943553-20951115	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20938400-20944000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr17:20941000-20944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:20941000-20944000	Weak transcription	Fetal Intestine Large	intestine
4	chr17:20941800-20944000	Enhancers	Primary B cells from peripheral blood	blood
5	chr17:20941800-20944000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr17:20941800-20944000	Enhancers	Left Ventricle	heart
7	chr17:20942400-20944800	Enhancers	Spleen	Spleen
8	chr17:20942600-20945000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:20942800-20944000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:20942800-20944000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr17:20942800-20944000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr17:20942800-20944000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr17:20942800-20944200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:20942800-20944600	Flanking Active TSS	HepG2	liver
15	chr17:20942800-20944800	Enhancers	Stomach Mucosa	stomach
16	chr17:20942800-20945600	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr17:20943000-20944000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr17:20943000-20944000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:20943000-20944000	Enhancers	Placenta	Placenta
20	chr17:20943000-20944000	Enhancers	Pancreas	Pancrea
21	chr17:20943000-20944200	Flanking Active TSS	Hela-S3	cervix
22	chr17:20943000-20944800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:20943000-20947200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr17:20943200-20944000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:20943200-20944000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:20943200-20944000	Enhancers	Gastric	stomach
27	chr17:20943200-20944000	Enhancers	Lung	lung
28	chr17:20943200-20944000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr17:20943200-20944200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:20943200-20944200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:20943200-20944200	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr17:20943200-20944200	Enhancers	Esophagus	oesophagus
33	chr17:20943200-20944200	Flanking Active TSS	HUVEC	blood vessel
34	chr17:20943200-20944400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:20943200-20944400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr17:20943200-20944800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:20943200-20945200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:20943200-20947200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:20943200-20947200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr17:20943200-20947200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr17:20943400-20944000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:20943400-20944000	Flanking Active TSS	NHEK	skin
43	chr17:20943400-20944400	Active TSS	K562	blood
44	chr17:20943400-20944600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:20943400-20945800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:20943400-20947200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:20943400-20947200	Active TSS	Aorta	Aorta
48	chr17:20943400-20947200	Active TSS	Brain Angular Gyrus	brain
49	chr17:20943400-20947200	Active TSS	Ovary	ovary
50	chr17:20943400-20947200	Active TSS	GM12878-XiMat	blood

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