Variant report

Variant	rs565536532
Chromosome Location	chr17:46189204-46189205
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	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	MXI1	chr17:46189010-46189580	GM12878	blood:	n/a	n/a
44	BCLAF1	chr17:46188980-46189597	GM12878	blood:	n/a	chr17:46189319-46189328 chr17:46189285-46189294
45	BCLAF1	chr17:46188938-46189400	GM12878	blood:	n/a	chr17:46189319-46189328 chr17:46189285-46189294
46	RELA	chr17:46189011-46189870	GM15510	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
47	RCOR1	chr17:46188439-46189874	GM12878	blood:	n/a	n/a
48	NFATC1	chr17:46188910-46189874	GM12878	blood:	n/a	n/a
49	SIN3A	chr17:46189081-46189362	GM12878	blood:	n/a	n/a
50	MTA3	chr17:46188918-46190137	GM12878	blood:	n/a	n/a

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:

Variant related genes	Relation type
SNX11	TF binding region
ENSG00000263412	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000082641	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	chr17:46186000-46195200	Weak transcription	Aorta	Aorta
6	chr17:46186000-46196200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:46186000-46198600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:46186200-46189400	Weak transcription	Placenta	Placenta
9	chr17:46186200-46189600	Weak transcription	Fetal Muscle Leg	muscle
10	chr17:46186200-46189600	Weak transcription	Thymus	Thymus
11	chr17:46186200-46189800	Weak transcription	Fetal Stomach	stomach
12	chr17:46186200-46190000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:46186200-46190400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr17:46186200-46190400	Weak transcription	Esophagus	oesophagus
15	chr17:46186200-46190400	Weak transcription	Fetal Kidney	kidney
16	chr17:46186200-46190600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:46186200-46190600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr17:46186200-46192000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr17:46186200-46192600	Weak transcription	Colon Smooth Muscle	Colon
20	chr17:46186200-46192600	Weak transcription	A549	lung
21	chr17:46186200-46193800	Weak transcription	Fetal Lung	lung
22	chr17:46186200-46195000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:46186200-46195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:46186200-46196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:46186200-46198600	Weak transcription	Fetal Brain Male	brain
26	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr17:46186400-46189400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:46186400-46189600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:46186400-46189800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr17:46186400-46189800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr17:46186400-46190000	Weak transcription	Brain Germinal Matrix	brain
32	chr17:46186400-46190400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr17:46186400-46190400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:46186400-46190400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:46186400-46190400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr17:46186400-46190400	Weak transcription	NHLF	lung
37	chr17:46186400-46191800	Weak transcription	Fetal Intestine Large	intestine
38	chr17:46186400-46192200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr17:46186400-46192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:46186400-46193000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr17:46186400-46193000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr17:46186400-46193400	Weak transcription	Osteobl	bone
43	chr17:46186400-46193600	Weak transcription	HSMMtube	muscle
44	chr17:46186400-46194800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr17:46186400-46195000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr17:46186400-46195000	Weak transcription	HSMM	muscle
47	chr17:46186400-46195000	Weak transcription	NHDF-Ad	bronchial
48	chr17:46186400-46195200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr17:46186400-46195400	Weak transcription	Brain Angular Gyrus	brain
50	chr17:46186400-46195400	Weak transcription	NH-A	brain

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