Variant report

Variant	rs187536984
Chromosome Location	chr17:45608088-45608089
allele	A/C
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	chr17:45608051-45609580	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:45607895-45609995	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:45608060-45608979	A549	lung:	n/a	n/a
4	POLR2A	chr17:45607937-45609832	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:45607999-45609843	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr17:45607980-45609817	K562	blood:	n/a	n/a
7	HA-E2F1	chr17:45608041-45608420	MCF-7	breast:	n/a	chr17:45608389-45608398
8	POLR2A	chr17:45607976-45608965	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr17:45607944-45609959	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:45608048-45609770	A549	lung:	n/a	n/a
11	POLR2A	chr17:45608004-45609077	GM12891	blood:	n/a	n/a
12	POLR2A	chr17:45608080-45608994	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr17:45608022-45608367	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr17:45608021-45608395	HepG2	liver:	n/a	n/a
15	SP1	chr17:45608015-45608839	A549	lung:	n/a	chr17:45608608-45608620 chr17:45608566-45608580 chr17:45608609-45608618 chr17:45608478-45608492 chr17:45608610-45608619 chr17:45608390-45608402 chr17:45608609-45608623 chr17:45608390-45608402 chr17:45608391-45608405 chr17:45608608-45608620 chr17:45608609-45608619
16	TAF1	chr17:45608056-45608524	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:45608036-45609024	Hela-S3	cervix:	n/a	n/a
18	HEY1	chr17:45607945-45608969	HepG2	liver:	n/a	chr17:45608543-45608558
19	TAF1	chr17:45608076-45609326	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:45608066-45608430	GM12891	blood:	n/a	n/a
21	HEY1	chr17:45608065-45608442	HepG2	liver:	n/a	n/a
22	POLR2A	chr17:45607924-45609891	GM12878	blood:	n/a	n/a
23	TCF12	chr17:45607910-45608423	A549	lung:	n/a	n/a
24	POLR2A	chr17:45608010-45608402	GM12878	blood:	n/a	n/a
25	NRF1	chr17:45607980-45608659	SK-N-SH	brain:	n/a	chr17:45608328-45608342 chr17:45608610-45608619
26	POLR2A	chr17:45608012-45609058	GM12891	blood:	n/a	n/a
27	POLR2A	chr17:45608066-45608906	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr17:45608046-45608962	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr17:45608030-45608435	GM12892	blood:	n/a	n/a
30	POLR2A	chr17:45608074-45608610	ECC-1	luminal epithelium:	n/a	n/a
31	MYBL2	chr17:45607927-45608380	HepG2	liver:	n/a	n/a
32	TAF1	chr17:45608067-45609801	HepG2	liver:	n/a	n/a
33	SP1	chr17:45608032-45608942	GM12878	blood:	n/a	chr17:45608608-45608620 chr17:45608566-45608580 chr17:45608609-45608618 chr17:45608478-45608492 chr17:45608610-45608619 chr17:45608390-45608402 chr17:45608609-45608623 chr17:45608390-45608402 chr17:45608391-45608405 chr17:45608608-45608620 chr17:45608609-45608619
34	RCOR1	chr17:45608050-45608502	IMR90	lung:	n/a	n/a
35	POLR2A	chr17:45608049-45609760	GM12878	blood:	n/a	n/a
36	POLR2A	chr17:45607947-45609368	GM12878	blood:	n/a	n/a
37	PBX3	chr17:45608068-45608184	GM12878	blood:	n/a	n/a
38	SP1	chr17:45608057-45608383	HepG2	liver:	n/a	n/a
39	POLR2A	chr17:45608079-45609065	A549	lung:	n/a	n/a
40	SIN3AK20	chr17:45607895-45608317	A549	lung:	n/a	n/a
41	MAZ	chr17:45608076-45608686	IMR90	lung:	n/a	n/a
42	PAX5	chr17:45608061-45609588	GM12878	blood:	n/a	chr17:45608332-45608341
43	POLR2A	chr17:45607884-45609039	PANC-1	pancreas:	n/a	n/a
44	HEY1	chr17:45608086-45609001	K562	blood:	n/a	chr17:45608543-45608558
45	JUND	chr17:45608026-45608747	HepG2	liver:	n/a	chr17:45608611-45608620 chr17:45608547-45608556
46	TAF1	chr17:45607926-45608985	H1-hESC	embryonic stem cell:	n/a	n/a
47	FOSL2	chr17:45607924-45608918	HepG2	liver:	n/a	chr17:45608611-45608620 chr17:45608547-45608556
48	POLR2A	chr17:45607972-45608961	SK-N-SH	brain:	n/a	n/a
49	TCF12	chr17:45608043-45608501	GM12878	blood:	n/a	n/a
50	POU2F2	chr17:45607920-45608361	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:38063458..38065003-chr17:45607681..45609442,2	MCF-7	breast:

Variant related genes	Relation type
NPEPPS	TF binding region
ENSG00000129514	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv833468	chr17:45511563-45683164	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1793478	chr17:45518444-45671051	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	esv1808961	chr17:45542951-45664746	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	esv33689	chr17:45551959-45664575	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv471513	chr17:45552080-45671439	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv908570	chr17:45571502-45684651	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv1818529	chr17:45583088-45683095	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv962334	chr17:45600707-45632564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3389518	chr17:45606828-45610526	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv3327948	chr17:45607378-45609926	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45607600-45609400	Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr17:45607600-45610800	Active TSS	A549	lung
3	chr17:45607800-45608200	Enhancers	Primary B cells from cord blood	blood
4	chr17:45607800-45608200	Flanking Active TSS	Placenta	Placenta
5	chr17:45607800-45608200	Flanking Active TSS	Dnd41	blood
6	chr17:45607800-45609400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr17:45607800-45609800	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr17:45607800-45610000	Active TSS	Colonic Mucosa	Colon
9	chr17:45607800-45610200	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr17:45607800-45610400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:45608000-45608200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr17:45608000-45608200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr17:45608000-45608200	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr17:45608000-45608200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr17:45608000-45608200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr17:45608000-45608200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:45608000-45608200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr17:45608000-45608200	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr17:45608000-45608200	Enhancers	K562	blood
20	chr17:45608000-45608400	Active TSS	Brain Angular Gyrus	brain
21	chr17:45608000-45609200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr17:45608000-45609200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:45608000-45609400	Active TSS	Primary hematopoietic stem cells	blood
24	chr17:45608000-45609400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:45608000-45609400	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr17:45608000-45609400	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr17:45608000-45609400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:45608000-45609400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:45608000-45609400	Active TSS	Liver	Liver
30	chr17:45608000-45609600	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr17:45608000-45609600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:45608000-45609600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr17:45608000-45609600	Active TSS	Fetal Muscle Trunk	muscle
34	chr17:45608000-45609600	Active TSS	Fetal Thymus	thymus
35	chr17:45608000-45609800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr17:45608000-45609800	Active TSS	Primary T cells from cord blood	blood
37	chr17:45608000-45609800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr17:45608000-45609800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr17:45608000-45609800	Active TSS	Colon Smooth Muscle	Colon
40	chr17:45608000-45610000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:45608000-45610000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:45608000-45610000	Active TSS	Adipose Nuclei	Adipose
43	chr17:45608000-45610000	Active TSS	Brain Anterior Caudate	brain
44	chr17:45608000-45610000	Active TSS	Brain Substantia Nigra	brain
45	chr17:45608000-45610000	Active TSS	Fetal Stomach	stomach
46	chr17:45608000-45610000	Active TSS	Left Ventricle	heart
47	chr17:45608000-45610000	Active TSS	Ovary	ovary
48	chr17:45608000-45610000	Active TSS	Pancreas	Pancrea
49	chr17:45608000-45610200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:45608000-45610200	Active TSS	HUES48 Cell Line	embryonic stem cell

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