Variant report

Variant	rs541798237
Chromosome Location	chr17:17206516-17206517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:228)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:228 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr17:17206306-17207153	K562	blood:	n/a	n/a
2	ZMIZ1	chr17:17206321-17206785	K562	blood:	n/a	n/a
3	E2F6	chr17:17206381-17207251	A549	lung:	n/a	chr17:17206952-17206963
4	POLR2A	chr17:17206386-17207198	GM10847	blood:	n/a	n/a
5	POLR2A	chr17:17206376-17207143	A549	lung:	n/a	n/a
6	TCF12	chr17:17206232-17206949	A549	lung:	n/a	n/a
7	ELF1	chr17:17206402-17207269	GM12878	blood:	n/a	chr17:17206628-17206640 chr17:17206638-17206647
8	MAZ	chr17:17206350-17207383	K562	blood:	n/a	n/a
9	POLR2A	chr17:17206387-17207216	Gliobla	brain:	n/a	n/a
10	PAX5	chr17:17206440-17207164	GM12892	blood:	n/a	n/a
11	POLR2A	chr17:17206251-17207008	HL-60	blood:	n/a	n/a
12	MAX	chr17:17206335-17207409	HepG2	liver:	n/a	n/a
13	BRCA1	chr17:17206364-17206620	Hela-S3	cervix:	n/a	n/a
14	MXI1	chr17:17205972-17209515	SK-N-SH	brain:	n/a	chr17:17208730-17208739
15	USF1	chr17:17206492-17206740	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr17:17206348-17207320	GM19193	blood:	n/a	n/a
17	SIN3AK20	chr17:17206450-17207015	PANC-1	pancreas:	n/a	n/a
18	TBP	chr17:17206402-17206780	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr17:17206365-17207314	SK-N-SH	brain:	n/a	n/a
20	HEY1	chr17:17206480-17206799	HepG2	liver:	n/a	n/a
21	UBTF	chr17:17206431-17207265	K562	blood:	n/a	n/a
22	POLR2A	chr17:17206250-17207297	NB4	blood:	n/a	n/a
23	POLR2A	chr17:17206156-17206855	U87	brain:	n/a	n/a
24	RCOR1	chr17:17206370-17206770	Hela-S3	cervix:	n/a	n/a
25	MAX	chr17:17206306-17207373	HepG2	liver:	n/a	n/a
26	EGR1	chr17:17206473-17206767	K562	blood:	n/a	chr17:17206633-17206647
27	MAX	chr17:17206329-17207345	MCF-7	breast:	n/a	n/a
28	POLR2A	chr17:17206394-17206784	GM12892	blood:	n/a	n/a
29	POLR2A	chr17:17206375-17207124	HUVEC	blood vessel:	n/a	n/a
30	ATF3	chr17:17206424-17206761	K562	blood:	n/a	chr17:17206622-17206631 chr17:17206670-17206679
31	IRF1	chr17:17206356-17206853	K562	blood:	n/a	chr17:17206618-17206632 chr17:17206631-17206645
32	E2F4	chr17:17206190-17207306	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr17:17206284-17206758	MCF10A-Er-Src	breast:	n/a	n/a
34	TCF12	chr17:17206432-17206731	GM12878	blood:	n/a	n/a
35	TAF1	chr17:17206305-17206879	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr17:17206202-17207329	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr17:17206387-17206727	GM12891	blood:	n/a	n/a
38	MYC	chr17:17206365-17207246	NB4	blood:	n/a	n/a
39	POLR2A	chr17:17206389-17206915	GM12878	blood:	n/a	n/a
40	POLR2A	chr17:17206312-17207232	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr17:17206284-17206845	SK-N-MC	brain:	n/a	n/a
42	MXI1	chr17:17206453-17206682	K562	blood:	n/a	n/a
43	MXI1	chr17:17206444-17207206	GM12878	blood:	n/a	n/a
44	E2F6	chr17:17206225-17207492	A549	lung:	n/a	chr17:17206952-17206963
45	HA-E2F1	chr17:17206340-17207211	Hela-S3	cervix:	n/a	chr17:17206562-17206573
46	BHLHE40	chr17:17206385-17206641	K562	blood:	n/a	n/a
47	MAZ	chr17:17206378-17206705	Hela-S3	cervix:	n/a	n/a
48	YY1	chr17:17206341-17206625	GM12878	blood:	n/a	n/a
49	POLR2A	chr17:17206337-17206929	H1-hESC	embryonic stem cell:	n/a	n/a
50	FOXP2	chr17:17206415-17207254	PFSK-1	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17088943..17091453-chr17:17205581..17207911,3	K562	blood:
2	chr17:17183059..17186537-chr17:17204352..17209458,5	K562	blood:
3	chr17:17135445..17137036-chr17:17206485..17208759,2	K562	blood:
4	chr17:17182421..17186483-chr17:17204152..17209830,5	MCF-7	breast:
5	chr17:17137888..17140600-chr17:17205281..17208205,3	MCF-7	breast:
6	chr17:17109423..17111075-chr17:17206335..17209184,2	K562	blood:
7	chr17:17138742..17142464-chr17:17205516..17208012,3	MCF-7	breast:
8	chr17:17183415..17186229-chr17:17206165..17209020,3	MCF-7	breast:
9	chr17:17181690..17186423-chr17:17204352..17210529,13	K562	blood:

No data

Variant related genes	Relation type
NT5M	TF binding region
ENSG00000154803	Chromatin interaction
ENSG00000264187	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000179598	Chromatin interaction
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv33859	chr17:17189904-17208157	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv3408202	chr17:17205752-17208600	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3351525	chr17:17205977-17207925	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17203400-17207000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr17:17203600-17207000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:17205600-17206600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:17205600-17206600	Flanking Active TSS	Dnd41	blood
5	chr17:17205800-17206600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:17205800-17207400	Active TSS	Hela-S3	cervix
7	chr17:17205800-17207600	Active TSS	K562	blood
8	chr17:17206000-17206600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr17:17206000-17207200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:17206000-17207200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:17206000-17207200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr17:17206000-17207200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:17206000-17207200	Active TSS	Brain Germinal Matrix	brain
14	chr17:17206000-17207200	Active TSS	Osteobl	bone
15	chr17:17206000-17207400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr17:17206000-17207400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:17206000-17207400	Active TSS	Brain Cingulate Gyrus	brain
18	chr17:17206000-17207400	Active TSS	Fetal Stomach	stomach
19	chr17:17206000-17207400	Active TSS	A549	lung
20	chr17:17206000-17207600	Active TSS	Fetal Lung	lung
21	chr17:17206000-17208600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr17:17206200-17206600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr17:17206200-17206600	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr17:17206200-17206600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr17:17206200-17206600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:17206200-17206600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr17:17206200-17206600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr17:17206200-17206600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr17:17206200-17206600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:17206200-17206600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr17:17206200-17206600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr17:17206200-17206600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:17206200-17206600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:17206200-17206600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr17:17206200-17206600	Flanking Active TSS	Liver	Liver
36	chr17:17206200-17206600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr17:17206200-17206600	Flanking Active TSS	Fetal Brain Male	brain
38	chr17:17206200-17206600	Flanking Active TSS	Fetal Heart	heart
39	chr17:17206200-17206600	Flanking Active TSS	Fetal Thymus	thymus
40	chr17:17206200-17206600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr17:17206200-17206600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr17:17206200-17206600	Enhancers	Spleen	Spleen
43	chr17:17206200-17206600	Flanking Active TSS	GM12878-XiMat	blood
44	chr17:17206200-17206600	Flanking Active TSS	HMEC	breast
45	chr17:17206200-17206600	Flanking Active TSS	HUVEC	blood vessel
46	chr17:17206200-17206600	Flanking Active TSS	NH-A	brain
47	chr17:17206200-17206800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:17206200-17206800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr17:17206200-17206800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr17:17206200-17207000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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