Variant report

Variant	rs575749589
Chromosome Location	chr17:15847944-15847945
allele	G/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	CTCF	chr17:15847896-15848177	A549	lung:	n/a	chr17:15848121-15848129
2	RAD21	chr17:15847930-15848867	H1-hESC	embryonic stem cell:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15848121-15848130
3	E2F6	chr17:15847282-15849704	K562	blood:	n/a	chr17:15848125-15848135 chr17:15848457-15848466 chr17:15849005-15849014
4	POLR2A	chr17:15847896-15848930	A549	lung:	n/a	n/a
5	RAD21	chr17:15847763-15849123	HCT-116	colon:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
6	RAD21	chr17:15847846-15848218	H1-hESC	embryonic stem cell:	n/a	chr17:15848106-15848120 chr17:15847895-15847908 chr17:15848121-15848130
7	CTCF	chr17:15847920-15848070	WI-38	lung:	n/a	n/a
8	MXI1	chr17:15847646-15850124	IMR90	lung:	n/a	chr17:15847670-15847679 chr17:15847670-15847679
9	RAD21	chr17:15847824-15848859	IMR90	lung:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
10	SMC3	chr17:15847939-15848843	K562	blood:	n/a	chr17:15848417-15848424 chr17:15848109-15848119
11	RAD21	chr17:15847846-15848846	ECC-1	luminal epithelium:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
12	RAD21	chr17:15847771-15848984	A549	lung:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
13	CTCF	chr17:15847896-15848755	K562	blood:	n/a	chr17:15848121-15848129 chr17:15848525-15848541
14	SIN3A	chr17:15847569-15848169	H1-hESC	embryonic stem cell:	n/a	chr17:15847670-15847679 chr17:15847935-15847943
15	CTCF	chr17:15847901-15848286	A549	lung:	n/a	chr17:15848121-15848129
16	E2F4	chr17:15847803-15848966	K562	blood:	n/a	chr17:15848125-15848135 chr17:15848457-15848466 chr17:15848298-15848309
17	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
18	RAD21	chr17:15847861-15848346	SK-N-SH_RA	brain:	n/a	chr17:15848106-15848120 chr17:15847895-15847908 chr17:15848121-15848130
19	CTCF	chr17:15847920-15848070	HFF-Myc	foreskin:	n/a	n/a
20	HMGN3	chr17:15847741-15849463	K562	blood:	n/a	n/a
21	CTCF	chr17:15847900-15848050	RPTEC	kidney:	n/a	n/a
22	MAX	chr17:15847769-15849104	HCT-116	colon:	n/a	n/a
23	POLR2A	chr17:15847943-15849541	U87	brain:	n/a	n/a
24	RAD21	chr17:15847889-15848326	MCF-7	breast:	n/a	chr17:15848106-15848120 chr17:15847895-15847908 chr17:15848121-15848130
25	FOXP2	chr17:15847844-15848892	PFSK-1	brain:	n/a	n/a
26	ZBTB7A	chr17:15847776-15848853	ECC-1	luminal epithelium:	n/a	chr17:15848532-15848541 chr17:15848393-15848401
27	MAZ	chr17:15847824-15849449	K562	blood:	n/a	n/a
28	RAD21	chr17:15847696-15848868	H1-hESC	embryonic stem cell:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
29	CTCF	chr17:15847787-15848733	K562	blood:	n/a	chr17:15848121-15848129 chr17:15848525-15848541
30	TBP	chr17:15847768-15848738	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr17:15847753-15849015	SK-N-SH	brain:	n/a	chr17:15848121-15848129 chr17:15848525-15848541
32	SP1	chr17:15847942-15848557	A549	lung:	n/a	chr17:15848068-15848077
33	RAD21	chr17:15847808-15848289	MCF-7	breast:	n/a	chr17:15848106-15848120 chr17:15847895-15847908 chr17:15848121-15848130
34	CREB1	chr17:15847880-15848997	HepG2	liver:	n/a	n/a
35	POLR2A	chr17:15847860-15848845	HUVEC	blood vessel:	n/a	n/a
36	RAD21	chr17:15847778-15849017	HCT-116	colon:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
37	CTBP2	chr17:15847782-15849453	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr17:15847871-15848743	HepG2	liver:	n/a	chr17:15848106-15848120 chr17:15848448-15848462 chr17:15847895-15847908 chr17:15848121-15848130
39	PAX5	chr17:15847915-15848162	GM12892	blood:	n/a	n/a
40	MAZ	chr17:15847620-15850366	IMR90	lung:	n/a	chr17:15847670-15847681 chr17:15847670-15847681 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847670-15847680
41	MYC	chr17:15847571-15849599	K562	blood:	n/a	chr17:15847670-15847681 chr17:15847670-15847681 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847671-15847680 chr17:15847670-15847680
42	CREB1	chr17:15847691-15848952	A549	lung:	n/a	n/a
43	POLR2A	chr17:15847941-15849719	IMR90	lung:	n/a	n/a
44	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
45	CTCF	chr17:15847940-15848090	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr17:15847797-15848240	H1-hESC	embryonic stem cell:	n/a	chr17:15848121-15848129
47	E2F6	chr17:15847231-15848151	H1-hESC	embryonic stem cell:	n/a	chr17:15848125-15848135
48	POLR2A	chr17:15847909-15849042	PANC-1	pancreas:	n/a	n/a
49	CTCF	chr17:15847904-15848280	A549	lung:	n/a	chr17:15848121-15848129
50	SIN3AK20	chr17:15847921-15848735	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15845973..15849997-chr17:15902965..15906205,4	K562	blood:
2	chr17:15846803..15850519-chr17:15901644..15904167,3	MCF-7	breast:
3	chr17:15847750..15848627-chr9:5628326..5629051,2	HCT-116	colon:

Variant related genes	Relation type
ADORA2B	TF binding region
ENSG00000214941	Chromatin interaction
ENSG00000107036	Chromatin interaction
ENSG00000011295	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15846000-15848000	Enhancers	Lung	lung
2	chr17:15846400-15850000	Weak transcription	Hela-S3	cervix
3	chr17:15847000-15848000	Enhancers	Placenta	Placenta
4	chr17:15847200-15848000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:15847200-15848200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr17:15847400-15848000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:15847400-15848200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr17:15847400-15848600	Active TSS	HepG2	liver
9	chr17:15847400-15849200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr17:15847400-15849200	Active TSS	Brain Hippocampus Middle	brain
11	chr17:15847400-15849400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr17:15847400-15849400	Active TSS	Rectal Smooth Muscle	rectum
13	chr17:15847600-15848000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:15847600-15848000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:15847600-15848000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr17:15847600-15848000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr17:15847600-15848000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr17:15847600-15848000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr17:15847600-15848000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr17:15847600-15848000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:15847600-15848000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:15847600-15848000	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr17:15847600-15848000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr17:15847600-15848000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
25	chr17:15847600-15848000	Enhancers	Spleen	Spleen
26	chr17:15847600-15848200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:15847600-15848200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr17:15847600-15848200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr17:15847600-15848600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr17:15847600-15848600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:15847600-15848600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
32	chr17:15847600-15848600	Bivalent Enhancer	Fetal Brain Male	brain
33	chr17:15847600-15848600	Active TSS	Right Atrium	heart
34	chr17:15847600-15849200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:15847600-15849200	Flanking Bivalent TSS/Enh	Thymus	Thymus
36	chr17:15847600-15849400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:15847600-15849400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:15847600-15849400	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr17:15847600-15849400	Flanking Active TSS	Pancreas	Pancrea
40	chr17:15847600-15849600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:15847600-15849600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:15847600-15849600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr17:15847600-15849600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr17:15847600-15849600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr17:15847600-15849600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:15847600-15849600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:15847600-15849600	Active TSS	Colon Smooth Muscle	Colon
48	chr17:15847600-15849600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr17:15847600-15849800	Active TSS	HSMM	muscle
50	chr17:15847600-15850000	Enhancers	Fetal Heart	heart

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