Variant report

Variant	rs571817560
Chromosome Location	chr12:120731756-120731757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr12:120731747-120731757	K562	blood:	n/a	n/a
2	ZNF384	chr12:120730615-120731942	K562	blood:	n/a	n/a
3	POLR2A	chr12:120728373-120731839	Hela-S3	cervix:	n/a	n/a
4	GATA2	chr12:120731731-120731974	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr12:120731500-120731951	SH-SY5Y	brain:	n/a	n/a
6	POLR2A	chr12:120731658-120731835	K562	blood:	n/a	n/a
7	POLR2A	chr12:120728682-120731817	HCT-116	colon:	n/a	n/a
8	NR2F2	chr12:120728927-120731769	K562	blood:	n/a	n/a

No data

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:44508536..44511215-chr12:120729558..120732284,2	MCF-7	breast:
2	chr12:118814110..118815934-chr12:120730037..120732286,2	MCF-7	breast:
3	chr12:120685626..120692224-chr12:120727115..120732105,16	K562	blood:
4	chr12:120729741..120733145-chr17:56707476..56710505,4	MCF-7	breast:
5	chr12:120606014..120608808-chr12:120727801..120732027,4	MCF-7	breast:
6	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
7	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
8	chr12:120729175..120732150-chr15:52245837..52248186,2	MCF-7	breast:
9	chr12:120728477..120731826-chr12:120874371..120876435,3	K562	blood:
10	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
11	chr12:120731520..120734276-chr17:57914284..57916496,2	MCF-7	breast:
12	chr12:120728080..120732301-chr12:120874297..120877936,6	K562	blood:
13	chr12:120727224..120732436-chr12:120750439..120758135,29	K562	blood:
14	chr12:120729365..120731964-chr8:126101720..126104275,2	MCF-7	breast:
15	chr12:120697928..120706288-chr12:120725352..120732223,30	K562	blood:
16	chr12:120729038..120732035-chr12:120899185..120901880,2	MCF-7	breast:
17	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
18	chr12:120685214..120692467-chr12:120727115..120732311,17	K562	blood:
19	chr12:120729883..120732315-chr2:43822185..43824876,2	MCF-7	breast:
20	chr12:39835813..39837314-chr12:120729486..120732278,2	MCF-7	breast:
21	chr12:120727155..120732265-chr12:120871900..120878042,6	MCF-7	breast:
22	chr12:120728333..120732236-chr22:23519442..23524202,7	K562	blood:
23	chr12:120728504..120731843-chr17:56707749..56710958,4	MCF-7	breast:
24	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
25	chr12:120727172..120733111-chr12:120749358..120767260,47	MCF-7	breast:
26	chr12:120729625..120732336-chr8:146016305..146017842,2	MCF-7	breast:
27	chr12:120729609..120731895-chr19:54605213..54606935,2	MCF-7	breast:
28	chr12:120730631..120732795-chr5:177578874..177580699,2	MCF-7	breast:
29	chr1:149223229..149225374-chr12:120730231..120732442,3	MCF-7	breast:
30	chr11:93472782..93475284-chr12:120730109..120732929,2	MCF-7	breast:
31	chr12:120729630..120732175-chr14:50064387..50066084,2	MCF-7	breast:
32	chr12:120729243..120732868-chr17:57969949..57971819,3	MCF-7	breast:
33	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
34	chr12:120730479..120733024-chr17:58677201..58678769,2	MCF-7	breast:
35	chr12:120729295..120732240-chr12:121229424..121231608,2	K562	blood:
36	chr12:120728080..120732034-chr12:120882797..120888425,5	K562	blood:
37	chr12:120726465..120732980-chr12:120904767..120910057,7	MCF-7	breast:
38	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
39	chr12:120728421..120732601-chr12:121010157..121013691,4	K562	blood:
40	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
41	chr12:120727833..120732436-chr12:120750797..120758239,21	K562	blood:
42	chr12:120729706..120732065-chr3:126372356..126374357,2	MCF-7	breast:
43	chr12:120730545..120732860-chr16:21170253..21173007,2	MCF-7	breast:
44	chr12:120631139..120640506-chr12:120724902..120734482,54	K562	blood:
45	chr12:120551112..120557922-chr12:120727181..120731830,12	K562	blood:
46	chr12:120515699..120519633-chr12:120727984..120732928,6	MCF-7	breast:
47	chr12:120730827..120732548-chr16:28844390..28846732,2	MCF-7	breast:
48	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
49	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
50	chr12:120699116..120708865-chr12:120725013..120732311,37	K562	blood:

No data

Variant related genes	Relation type
RNU4-2	TF binding region
RNU4-1	TF binding region
ENSG00000115970	Chromatin interaction
ENSG00000186716	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000170909	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000170906	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000197763	Chromatin interaction
ENSG00000236794	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000170890	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000230615	Chromatin interaction
ENSG00000139116	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000165501	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000008513	Chromatin interaction
ENSG00000240925	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000252974	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000158486	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000161016	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000253459	Chromatin interaction
ENSG00000252659	Chromatin interaction
ENSG00000213741	Chromatin interaction
ENSG00000157837	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
7	esv1799498	chr12:120725939-120745740	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription 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	429 gene(s)	inside rSNPs	diseases
8	esv2763006	chr12:120731346-120750746	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120729000-120731800	Active TSS	A549	lung
2	chr12:120731000-120731800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:120731400-120731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:120731400-120734400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:120731400-120739800	Weak transcription	Right Atrium	heart
6	chr12:120731400-120740000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:120731600-120731800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:120731600-120731800	Enhancers	Liver	Liver
9	chr12:120731600-120731800	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:120731600-120731800	Enhancers	Fetal Brain Male	brain
11	chr12:120731600-120732600	Enhancers	HepG2	liver

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