Variant report

Variant	rs569851079
Chromosome Location	chr17:46189133-46189134
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46188957-46189623	GM12891	blood:	n/a	n/a
2	NFIC	chr17:46188975-46189562	GM12878	blood:	n/a	chr17:46189213-46189229
3	POLR2A	chr17:46189022-46189572	GM12891	blood:	n/a	n/a
4	NFIC	chr17:46188901-46189997	GM12878	blood:	n/a	chr17:46189213-46189229
5	CHD2	chr17:46189090-46189225	GM12878	blood:	n/a	n/a
6	RELA	chr17:46188955-46189614	GM19193	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
7	ZNF143	chr17:46189056-46189799	GM12878	blood:	n/a	n/a
8	MEF2A	chr17:46189009-46189549	GM12878	blood:	n/a	n/a
9	CEBPB	chr17:46188917-46189850	GM12878	blood:	n/a	n/a
10	CHD1	chr17:46189055-46189234	GM12878	blood:	n/a	n/a
11	PML	chr17:46188887-46189666	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:46188940-46189616	GM12892	blood:	n/a	n/a
13	RELA	chr17:46188997-46190074	GM18951	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
14	POLR2A	chr17:46188895-46190142	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:46185296-46189875	K562	blood:	n/a	n/a
16	RELA	chr17:46189028-46190012	GM12878	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
17	BHLHE40	chr17:46188160-46189547	GM12878	blood:	n/a	n/a
18	MEF2A	chr17:46189030-46189777	GM12878	blood:	n/a	n/a
19	RUNX3	chr17:46188965-46189515	GM12878	blood:	n/a	n/a
20	ZNF384	chr17:46188654-46189408	GM12878	blood:	n/a	n/a
21	ATF2	chr17:46188938-46189793	GM12878	blood:	n/a	n/a
22	TBL1XR1	chr17:46189072-46189495	GM12878	blood:	n/a	n/a
23	WRNIP1	chr17:46189084-46190099	GM12878	blood:	n/a	n/a
24	MAX	chr17:46189031-46189287	GM12878	blood:	n/a	n/a
25	FOXM1	chr17:46188949-46189790	GM12878	blood:	n/a	n/a
26	STAT5A	chr17:46188917-46190116	GM12878	blood:	n/a	n/a
27	RELA	chr17:46188997-46190062	GM18505	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
28	MEF2C	chr17:46189028-46189569	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:46188950-46190141	GM12878	blood:	n/a	n/a
30	TBP	chr17:46189006-46190018	GM12878	blood:	n/a	n/a
31	TAF1	chr17:46189048-46189486	GM12878	blood:	n/a	n/a
32	POLR2A	chr17:46189017-46189254	GM12878	blood:	n/a	n/a
33	EP300	chr17:46189058-46189438	GM12878	blood:	n/a	n/a
34	TAF1	chr17:46189027-46189234	GM12878	blood:	n/a	n/a
35	MTA3	chr17:46188931-46189831	GM12878	blood:	n/a	n/a
36	RUNX3	chr17:46188917-46189621	GM12878	blood:	n/a	n/a
37	EP300	chr17:46189111-46189560	GM12878	blood:	n/a	n/a
38	EBF1	chr17:46188921-46189406	GM12878	blood:	n/a	chr17:46189195-46189206
39	BCL3	chr17:46189027-46189532	GM12878	blood:	n/a	chr17:46189319-46189328 chr17:46189285-46189294
40	YY1	chr17:46188963-46189262	GM12878	blood:	n/a	n/a
41	RELA	chr17:46188974-46189601	GM18526	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
42	RELA	chr17:46188922-46189722	GM19099	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
43	CTCF	chr17:46189020-46189170	GM06990	blood:	n/a	n/a
44	MXI1	chr17:46189010-46189580	GM12878	blood:	n/a	n/a
45	BCLAF1	chr17:46188980-46189597	GM12878	blood:	n/a	chr17:46189319-46189328 chr17:46189285-46189294
46	BCLAF1	chr17:46188938-46189400	GM12878	blood:	n/a	chr17:46189319-46189328 chr17:46189285-46189294
47	RELA	chr17:46189011-46189870	GM15510	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
48	RCOR1	chr17:46188439-46189874	GM12878	blood:	n/a	n/a
49	NFATC1	chr17:46188910-46189874	GM12878	blood:	n/a	n/a
50	SIN3A	chr17:46189081-46189362	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46189113-46189163	U87	brain:	n/a
2	chr17:46189113-46189163	GM12891	blood:	n/a
3	chr17:46189113-46189163	SK-N-MC	brain:	n/a
4	chr17:46189113-46189163	NHBE	bronchial:	n/a
5	chr17:46189113-46189163	SKMC	muscle:	n/a
6	chr17:46189113-46189163	HAEpiC	amniotic membrane:	n/a
7	chr17:46189113-46189163	Jurkat	blood:	n/a
8	chr17:46189113-46189163	ovcar-3	ovarian:	n/a
9	chr17:46189113-46189163	HUVEC	blood vessel:	n/a
10	chr17:46189113-46189163	BE2_C	brain:	n/a
11	chr17:46189113-46189163	HCT-116	colon:	n/a
12	chr17:46189113-46189163	PANC-1	pancreas:	n/a
13	chr17:46189113-46189163	Caco-2	colon:	n/a
14	chr17:46189113-46189163	AG09309	skin:	n/a
15	chr17:46189113-46189163	GM19239	blood:	n/a
16	chr17:46189113-46189163	K562	blood:	n/a
17	chr17:46189113-46189163	GM12878	blood:	n/a
18	chr17:46189113-46189163	PrEC	prostate:	n/a
19	chr17:46189113-46189163	MCF10A-Er-Src	breast:	n/a
20	chr17:46189113-46189163	HCPEpiC	choroid plexus:	n/a
21	chr17:46189113-46189163	Hepatocyte	liver:	n/a
22	chr17:46189113-46189163	AoSMC	blood vessel:	n/a
23	chr17:46189113-46189163	NB4	blood:	n/a
24	chr17:46189113-46189163	ECC-1	luminal epithelium:	n/a
25	chr17:46189113-46189163	HIPEpiC	eye:	n/a
26	chr17:46189113-46189163	RPTEC	kidney:	n/a
27	chr17:46189113-46189163	AG04450	lung:	fetal
28	chr17:46189113-46189163	GM06990	blood:	n/a
29	chr17:46189113-46189163	A549	lung:	n/a
30	chr17:46189113-46189163	MCF-7	breast:	n/a
31	chr17:46189113-46189163	HCF	heart:	n/a
32	chr17:46189113-46189163	AG10803	skin:	n/a
33	chr17:46189113-46189163	SK-N-SH_RA	brain:	n/a
34	chr17:46189113-46189163	HL-60	blood:	n/a
35	chr17:46189113-46189163	HepG2	liver:	n/a
36	chr17:46189113-46189163	H1-hESC	embryonic stem cell:	embryo
37	chr17:46189113-46189163	HMEC	breast:	n/a
38	chr17:46189113-46189163	GM12892	blood:	n/a
39	chr17:46189113-46189163	NHDF-neo	bronchial:	n/a
40	chr17:46189113-46189163	AG04449	skin:	fetal
41	chr17:46189113-46189163	SAEC	small airway:	n/a
42	chr17:46189113-46189163	HCM	heart:	n/a
43	chr17:46189113-46189163	PFSK-1	brain:	n/a
44	chr17:46189113-46189163	ProgFib	skin:	n/a
45	chr17:46189113-46189163	NT2-D1	testis:	n/a
46	chr17:46189113-46189163	HEK293	kidney:	embryo
47	chr17:46189113-46189163	HRE	kidney:	n/a
48	chr17:46189113-46189163	HPAEpiC	pulmonary alveolar:	n/a
49	chr17:46189113-46189163	HRPEpiC	eye:	n/a
50	chr17:46189113-46189163	LNCaP	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46184602..46186632-chr17:46186895..46189927,3	MCF-7	breast:
2	chr17:46175023..46180196-chr17:46181333..46189268,23	MCF-7	breast:
3	chr17:46125014..46129511-chr17:46182877..46189561,8	K562	blood:
4	chr17:46124943..46127247-chr17:46188061..46189641,2	K562	blood:

No data

Variant related genes	Relation type
SNX11	TF binding region
SNX11	CpG island
ENSG00000082641	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000002919	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv112217	chr17:46182711-46190093	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1007058	chr17:46188741-46200367	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46185600-46191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:46185800-46190000	Weak transcription	Lung	lung
3	chr17:46185800-46193000	Weak transcription	Gastric	stomach
4	chr17:46185800-46195800	Weak transcription	Ovary	ovary
5	chr17:46186000-46189200	Weak transcription	Colonic Mucosa	Colon
6	chr17:46186000-46195200	Weak transcription	Aorta	Aorta
7	chr17:46186000-46196200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:46186000-46198600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:46186200-46189400	Weak transcription	Placenta	Placenta
10	chr17:46186200-46189600	Weak transcription	Fetal Muscle Leg	muscle
11	chr17:46186200-46189600	Weak transcription	Thymus	Thymus
12	chr17:46186200-46189800	Weak transcription	Fetal Stomach	stomach
13	chr17:46186200-46190000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:46186200-46190400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr17:46186200-46190400	Weak transcription	Esophagus	oesophagus
16	chr17:46186200-46190400	Weak transcription	Fetal Kidney	kidney
17	chr17:46186200-46190600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr17:46186200-46190600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:46186200-46192000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr17:46186200-46192600	Weak transcription	Colon Smooth Muscle	Colon
21	chr17:46186200-46192600	Weak transcription	A549	lung
22	chr17:46186200-46193800	Weak transcription	Fetal Lung	lung
23	chr17:46186200-46195000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:46186200-46195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr17:46186200-46196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:46186200-46198600	Weak transcription	Fetal Brain Male	brain
27	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr17:46186400-46189200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:46186400-46189200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:46186400-46189200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:46186400-46189400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:46186400-46189600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr17:46186400-46189800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr17:46186400-46189800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:46186400-46190000	Weak transcription	Brain Germinal Matrix	brain
36	chr17:46186400-46190400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:46186400-46190400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:46186400-46190400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:46186400-46190400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr17:46186400-46190400	Weak transcription	NHLF	lung
41	chr17:46186400-46191800	Weak transcription	Fetal Intestine Large	intestine
42	chr17:46186400-46192200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr17:46186400-46192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:46186400-46193000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr17:46186400-46193000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr17:46186400-46193400	Weak transcription	Osteobl	bone
47	chr17:46186400-46193600	Weak transcription	HSMMtube	muscle
48	chr17:46186400-46194800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr17:46186400-46195000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr17:46186400-46195000	Weak transcription	HSMM	muscle

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