Variant report

Variant	rs2779195
Chromosome Location	chr17:15847441-15847442
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	E2F6	chr17:15847282-15849704	K562	blood:	n/a	chr17:15848125-15848135 chr17:15848457-15848466 chr17:15849005-15849014
2	MAX	chr17:15847233-15847915	H1-hESC	embryonic stem cell:	n/a	chr17:15847670-15847681 chr17:15847670-15847681 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847670-15847680
3	MAX	chr17:15847208-15848238	H1-hESC	embryonic stem cell:	n/a	chr17:15847670-15847681 chr17:15847670-15847681 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847670-15847680
4	USF2	chr17:15847351-15847908	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr17:15847352-15849042	H1-hESC	embryonic stem cell:	n/a	chr17:15847670-15847681 chr17:15847670-15847681 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847670-15847680
6	E2F6	chr17:15847231-15848151	H1-hESC	embryonic stem cell:	n/a	chr17:15848125-15848135
7	MXI1	chr17:15847405-15849173	SK-N-SH	brain:	n/a	chr17:15847670-15847679 chr17:15847670-15847679
8	MAX	chr17:15847355-15849230	A549	lung:	n/a	chr17:15847670-15847681 chr17:15847670-15847681 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847670-15847680
9	E2F6	chr17:15847071-15849853	H1-hESC	embryonic stem cell:	n/a	chr17:15848125-15848135 chr17:15848457-15848466 chr17:15849005-15849014
10	CTCF	chr17:15847192-15849089	A549	lung:	n/a	chr17:15848121-15848129 chr17:15848525-15848541

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15847412-15847462	LNCaP	prostate:	n/a
2	chr17:15847412-15847462	AG04449	skin:	fetal
3	chr17:15847412-15847462	NB4	blood:	n/a
4	chr17:15847412-15847462	SK-N-SH_RA	brain:	n/a
5	chr17:15847412-15847462	CMK	blood:	n/a
6	chr17:15847412-15847462	NH-A	brain:	n/a
7	chr17:15847412-15847462	IMR90	lung:	fetal
8	chr17:15847412-15847462	HEK293	kidney:	embryo
9	chr17:15847412-15847462	HMEC	breast:	n/a
10	chr17:15847412-15847462	GM19239	blood:	n/a
11	chr17:15847412-15847462	HUVEC	blood vessel:	n/a
12	chr17:15847412-15847462	PFSK-1	brain:	n/a
13	chr17:15847412-15847462	HepG2	liver:	n/a
14	chr17:15847412-15847462	ovcar-3	ovarian:	n/a
15	chr17:15847412-15847462	HNPCEpiC	eye:	n/a
16	chr17:15847412-15847462	K562	blood:	n/a
17	chr17:15847412-15847462	HCPEpiC	choroid plexus:	n/a
18	chr17:15847412-15847462	ECC-1	luminal epithelium:	n/a
19	chr17:15847412-15847462	PrEC	prostate:	n/a
20	chr17:15847412-15847462	T-47D	breast:	n/a
21	chr17:15847412-15847462	PANC-1	pancreas:	n/a
22	chr17:15847412-15847462	NHBE	bronchial:	n/a
23	chr17:15847412-15847462	HIPEpiC	eye:	n/a
24	chr17:15847412-15847462	GM12878	blood:	n/a
25	chr17:15847412-15847462	A549	lung:	n/a
26	chr17:15847412-15847462	MCF10A-Er-Src	breast:	n/a
27	chr17:15847412-15847462	Caco-2	colon:	n/a
28	chr17:15847412-15847462	GM12892	blood:	n/a
29	chr17:15847412-15847462	AG04450	lung:	fetal
30	chr17:15847412-15847462	AoSMC	blood vessel:	n/a
31	chr17:15847412-15847462	H1-hESC	embryonic stem cell:	embryo
32	chr17:15847412-15847462	HCT-116	colon:	n/a
33	chr17:15847412-15847462	SK-N-SH	brain:	n/a
34	chr17:15847412-15847462	SK-N-MC	brain:	n/a
35	chr17:15847412-15847462	HCM	heart:	n/a
36	chr17:15847412-15847462	HCF	heart:	n/a
37	chr17:15847412-15847462	ProgFib	skin:	n/a
38	chr17:15847412-15847462	U87	brain:	n/a
39	chr17:15847412-15847462	HRPEpiC	eye:	n/a
40	chr17:15847412-15847462	HPAEpiC	pulmonary alveolar:	n/a
41	chr17:15847412-15847462	NT2-D1	testis:	n/a
42	chr17:15847412-15847462	AG09309	skin:	n/a
43	chr17:15847412-15847462	HEEpiC	esophagus:	n/a
44	chr17:15847412-15847462	RPTEC	kidney:	n/a
45	chr17:15847412-15847462	AG10803	skin:	n/a
46	chr17:15847412-15847462	Hepatocyte	liver:	n/a
47	chr17:15847412-15847462	HRCEpiC	kidney:	n/a
48	chr17:15847412-15847462	MCF-7	breast:	n/a
49	chr17:15847412-15847462	BJ	skin:	n/a
50	chr17:15847412-15847462	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15842295..15844901-chr17:15846137..15847870,2	MCF-7	breast:
2	chr17:15845973..15849997-chr17:15902965..15906205,4	K562	blood:
3	chr17:15846803..15850519-chr17:15901644..15904167,3	MCF-7	breast:

Variant related genes	Relation type
ADORA2B	TF binding region
ADORA2B	CpG island
ENSG00000214941	Chromatin interaction
ENSG00000011295	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2041458	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2058366	1.00[ASN][1000 genomes]
rs2535602	1.00[ASN][1000 genomes]
rs2535603	1.00[ASN][1000 genomes]
rs2535604	1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs2535607	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2535608	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2535609	0.91[LWK][hapmap];0.83[MKK][hapmap]
rs2535610	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2779190	1.00[ASN][1000 genomes]
rs2779191	1.00[ASN][1000 genomes]
rs2779192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2779193	1.00[ASN][1000 genomes]
rs2779194	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2779196	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2779197	1.00[ASN][1000 genomes]
rs2779199	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7213464	1.00[ASN][1000 genomes]
rs757623	1.00[ASN][1000 genomes]
rs758854	1.00[ASN][1000 genomes]
rs758855	1.00[ASN][1000 genomes]
rs758856	1.00[ASN][1000 genomes]
rs758857	0.88[ASW][hapmap]
rs758858	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8069362	1.00[TSI][hapmap]
rs859231	1.00[GIH][hapmap]
rs859267	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking 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	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
12	nsv1061987	chr17:15810017-15855135	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	esv3402966	chr17:15847052-15849600	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15844200-15847600	Weak transcription	Right Atrium	heart
2	chr17:15845800-15847600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:15846000-15848000	Enhancers	Lung	lung
4	chr17:15846200-15847600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:15846200-15847600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:15846200-15847600	Weak transcription	NH-A	brain
7	chr17:15846200-15847800	Weak transcription	HMEC	breast
8	chr17:15846400-15847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:15846400-15847600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:15846400-15847600	Weak transcription	Spleen	Spleen
11	chr17:15846400-15847800	Weak transcription	HUVEC	blood vessel
12	chr17:15846400-15850000	Weak transcription	Hela-S3	cervix
13	chr17:15846600-15847800	Weak transcription	Primary B cells from cord blood	blood
14	chr17:15847000-15848000	Enhancers	Placenta	Placenta
15	chr17:15847200-15847600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:15847200-15847600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:15847200-15847600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr17:15847200-15847600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:15847200-15847600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:15847200-15847600	Enhancers	Pancreas	Pancrea
21	chr17:15847200-15848000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:15847200-15848200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr17:15847400-15847600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr17:15847400-15847600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:15847400-15847600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:15847400-15847600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:15847400-15847600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:15847400-15847600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:15847400-15847600	Enhancers	Brain Anterior Caudate	brain
30	chr17:15847400-15847600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
31	chr17:15847400-15847600	Enhancers	Colon Smooth Muscle	Colon
32	chr17:15847400-15847600	Bivalent Enhancer	Fetal Brain Female	brain
33	chr17:15847400-15847600	Bivalent Enhancer	Fetal Heart	heart
34	chr17:15847400-15847600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr17:15847400-15847600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr17:15847400-15847600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr17:15847400-15847800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr17:15847400-15847800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:15847400-15847800	Enhancers	Primary hematopoietic stem cells	blood
40	chr17:15847400-15847800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr17:15847400-15847800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:15847400-15847800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:15847400-15847800	Bivalent Enhancer	Brain Angular Gyrus	brain
44	chr17:15847400-15847800	Enhancers	NHEK	skin
45	chr17:15847400-15848000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:15847400-15848200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr17:15847400-15848600	Active TSS	HepG2	liver
48	chr17:15847400-15849200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
49	chr17:15847400-15849200	Active TSS	Brain Hippocampus Middle	brain
50	chr17:15847400-15849400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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