Variant report

Variant	rs565102291
Chromosome Location	chr12:120731372-120731373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:175)
CpG islands
(count:0)
Chromatin interactive
region (count:91)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:175 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120729078-120731508	K562	blood:	n/a	n/a
2	TAF7	chr12:120728675-120731670	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:120728616-120731421	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr12:120728550-120731470	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr12:120730240-120731417	A549	lung:	n/a	n/a
6	STAT3	chr12:120730474-120731460	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:120728334-120731458	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr12:120730753-120731580	A549	lung:	n/a	n/a
9	TCF12	chr12:120728531-120731439	ECC-1	luminal epithelium:	n/a	n/a
10	EGR1	chr12:120730496-120731426	HCT-116	colon:	n/a	chr12:120731176-120731187 chr12:120731177-120731187 chr12:120731176-120731187
11	TCF12	chr12:120730258-120731417	A549	lung:	n/a	n/a
12	BCLAF1	chr12:120730269-120731416	K562	blood:	n/a	n/a
13	MYBL2	chr12:120728832-120731555	HepG2	liver:	n/a	n/a
14	TBP	chr12:120728685-120731470	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:120728393-120731383	PANC-1	pancreas:	n/a	n/a
16	RFX5	chr12:120730401-120731439	K562	blood:	n/a	n/a
17	CBX3	chr12:120729013-120731465	HCT-116	colon:	n/a	chr12:120729551-120729562
18	POLR2A	chr12:120728329-120731567	PFSK-1	brain:	n/a	n/a
19	GTF2B	chr12:120730646-120731431	K562	blood:	n/a	n/a
20	MAFK	chr12:120730570-120731384	K562	blood:	n/a	n/a
21	EP300	chr12:120728862-120731455	ECC-1	luminal epithelium:	n/a	n/a
22	TCF12	chr12:120728926-120731468	ECC-1	luminal epithelium:	n/a	n/a
23	EP300	chr12:120730508-120731423	SK-N-SH	brain:	n/a	n/a
24	NFATC1	chr12:120730243-120731440	GM12878	blood:	n/a	n/a
25	MAX	chr12:120728406-120731389	MCF-7	breast:	n/a	n/a
26	GATA3	chr12:120728534-120731495	A549	lung:	n/a	chr12:120731383-120731394
27	POLR2A	chr12:120728739-120731411	K562	blood:	n/a	n/a
28	PML	chr12:120728821-120731491	MCF-7	breast:	n/a	n/a
29	ZNF143	chr12:120730684-120731450	H1-hESC	embryonic stem cell:	n/a	chr12:120731240-120731255 chr12:120731239-120731258
30	ARID3A	chr12:120730499-120731658	K562	blood:	n/a	n/a
31	EP300	chr12:120730502-120731520	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:120728661-120731438	K562	blood:	n/a	n/a
33	TCF12	chr12:120728912-120731430	SK-N-SH	brain:	n/a	n/a
34	CEBPB	chr12:120730665-120731596	MCF-7	breast:	n/a	n/a
35	HCFC1	chr12:120728300-120731633	Hela-S3	cervix:	n/a	n/a
36	TBP	chr12:120728526-120731533	K562	blood:	n/a	n/a
37	CEBPB	chr12:120730439-120731513	HCT-116	colon:	n/a	n/a
38	CEBPB	chr12:120730773-120731643	HepG2	liver:	n/a	n/a
39	SP1	chr12:120730496-120731384	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr12:120728490-120731408	SK-N-SH	brain:	n/a	n/a
41	SP1	chr12:120728448-120731631	HCT-116	colon:	n/a	chr12:120730058-120730071 chr12:120729724-120729738
42	CEBPB	chr12:120728321-120731645	K562	blood:	n/a	chr12:120728481-120728492
43	TBP	chr12:120730481-120731635	Hela-S3	cervix:	n/a	n/a
44	POU2F2	chr12:120730250-120731434	GM12891	blood:	n/a	n/a
45	NFIC	chr12:120730208-120731404	GM12878	blood:	n/a	n/a
46	FOXM1	chr12:120730401-120731422	ECC-1	luminal epithelium:	n/a	n/a
47	MAFF	chr12:120728514-120731380	K562	blood:	n/a	n/a
48	JUND	chr12:120728976-120731482	HCT-116	colon:	n/a	chr12:120729940-120729949 chr12:120729726-120729735
49	SIN3AK20	chr12:120728729-120731411	A549	lung:	n/a	n/a
50	MBD4	chr12:120730546-120731398	HepG2	liver:	n/a	n/a

No data

(count:91 , 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	chr12:120529252..120531739-chr12:120728322..120731564,3	MCF-7	breast:
4	chr12:120685626..120692224-chr12:120727115..120732105,16	K562	blood:
5	chr12:120729387..120731467-chr6:13710748..13713061,2	MCF-7	breast:
6	chr12:120729741..120733145-chr17:56707476..56710505,4	MCF-7	breast:
7	chr12:120606014..120608808-chr12:120727801..120732027,4	MCF-7	breast:
8	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
9	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
10	chr12:120729175..120732150-chr15:52245837..52248186,2	MCF-7	breast:
11	chr12:120730544..120731623-chrX:153626419..153627097,3	Hela-S3	cervix:
12	chr12:120728477..120731826-chr12:120874371..120876435,3	K562	blood:
13	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
14	chr12:120728080..120732301-chr12:120874297..120877936,6	K562	blood:
15	chr12:120728049..120731590-chr12:120965249..120968541,5	K562	blood:
16	chr12:120730583..120731458-chr17:79633579..79634294,2	Hela-S3	cervix:
17	chr12:120727224..120732436-chr12:120750439..120758135,29	K562	blood:
18	chr12:120729365..120731964-chr8:126101720..126104275,2	MCF-7	breast:
19	chr12:120697928..120706288-chr12:120725352..120732223,30	K562	blood:
20	chr12:120729038..120732035-chr12:120899185..120901880,2	MCF-7	breast:
21	chr12:120728393..120731711-chr12:120805239..120807118,3	MCF-7	breast:
22	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
23	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
24	chr12:120730734..120731380-chr20:43991498..43992335,2	NB4	blood:
25	chr12:120685214..120692467-chr12:120727115..120732311,17	K562	blood:
26	chr1:16839434..16842032-chr12:120728753..120731568,4	MCF-7	breast:
27	chr12:120729883..120732315-chr2:43822185..43824876,2	MCF-7	breast:
28	chr12:39835813..39837314-chr12:120729486..120732278,2	MCF-7	breast:
29	chr12:120728048..120731447-chr12:120933331..120935879,5	K562	blood:
30	chr12:120727155..120732265-chr12:120871900..120878042,6	MCF-7	breast:
31	chr12:120728333..120732236-chr22:23519442..23524202,7	K562	blood:
32	chr12:120728504..120731843-chr17:56707749..56710958,4	MCF-7	breast:
33	chr1:149859057..149860974-chr12:120729495..120731395,2	MCF-7	breast:
34	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
35	chr12:120727172..120733111-chr12:120749358..120767260,47	MCF-7	breast:
36	chr12:120730619..120731550-chr15:91498504..91499499,2	Hela-S3	cervix:
37	chr12:120729625..120732336-chr8:146016305..146017842,2	MCF-7	breast:
38	chr12:120729609..120731895-chr19:54605213..54606935,2	MCF-7	breast:
39	chr12:120730631..120732795-chr5:177578874..177580699,2	MCF-7	breast:
40	chr1:149223229..149225374-chr12:120730231..120732442,3	MCF-7	breast:
41	chr12:120730813..120731447-chr5:179921399..179922129,2	Hela-S3	cervix:
42	chr11:93472782..93475284-chr12:120730109..120732929,2	MCF-7	breast:
43	chr12:120729630..120732175-chr14:50064387..50066084,2	MCF-7	breast:
44	chr12:120729899..120731617-chr7:156432484..156434747,2	MCF-7	breast:
45	chr12:120729243..120732868-chr17:57969949..57971819,3	MCF-7	breast:
46	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
47	chr12:120729536..120731633-chr17:57784073..57785981,2	MCF-7	breast:
48	chr12:120727901..120731375-chr12:120804063..120807248,3	K562	blood:
49	chr12:120730479..120733024-chr17:58677201..58678769,2	MCF-7	breast:
50	chr12:120729295..120732240-chr12:121229424..121231608,2	K562	blood:

No data

Variant related genes	Relation type
RNU4-1	TF binding region
RNU4-2	TF binding region
ENSG00000111786	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000240925	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000272173	Chromatin interaction
ENSG00000253459	Chromatin interaction
ENSG00000186716	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000239881	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000256569	Chromatin interaction
ENSG00000261135	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000170906	Chromatin interaction
ENSG00000252974	Chromatin interaction
ENSG00000252659	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000139116	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000254806	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000182648	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000170909	Chromatin interaction
ENSG00000166965	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000236794	Chromatin interaction
ENSG00000197763	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000105982	Chromatin interaction
ENSG00000213741	Chromatin interaction
ENSG00000161016	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000204070	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000204237	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000157837	Chromatin interaction
ENSG00000149923	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000135097	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000115970	Chromatin interaction
ENSG00000170890	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000141378	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000008513	Chromatin interaction
ENSG00000165501	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000185298	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000158486	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000230615	Chromatin interaction
ENSG00000272160	Chromatin interaction
ENSG00000244291	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120728400-120731400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:120728400-120731400	Active TSS	Rectal Smooth Muscle	rectum
3	chr12:120728600-120731400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:120728600-120731400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:120728600-120731400	Active TSS	Colonic Mucosa	Colon
6	chr12:120728600-120731400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr12:120728600-120731400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:120728600-120731600	Active TSS	Brain Substantia Nigra	brain
9	chr12:120728800-120731600	Active TSS	Psoas Muscle	Psoas
10	chr12:120729000-120731400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:120729000-120731400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:120729000-120731400	Flanking Active TSS	Fetal Thymus	thymus
13	chr12:120729000-120731600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:120729000-120731600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:120729000-120731800	Active TSS	A549	lung
16	chr12:120729200-120731400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr12:120729200-120731400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:120729200-120731400	Active TSS	Brain Cingulate Gyrus	brain
19	chr12:120729200-120731400	Active TSS	Fetal Muscle Trunk	muscle
20	chr12:120729400-120731400	Active TSS	Brain Anterior Caudate	brain
21	chr12:120729400-120731400	Active TSS	Fetal Lung	lung
22	chr12:120729400-120731400	Active TSS	Fetal Muscle Leg	muscle
23	chr12:120729400-120731400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr12:120729600-120731400	Active TSS	NHLF	lung
25	chr12:120729800-120731400	Active TSS	Placenta	Placenta
26	chr12:120729800-120731400	Active TSS	NHDF-Ad	bronchial
27	chr12:120729800-120731600	Flanking Active TSS	Dnd41	blood
28	chr12:120730000-120731400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:120730000-120731400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr12:120730200-120731400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:120730400-120731600	Flanking Active TSS	Hela-S3	cervix
32	chr12:120730600-120731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:120730600-120731600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:120730800-120731400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:120730800-120731400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:120730800-120731400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr12:120730800-120731400	Active TSS	Fetal Brain Female	brain
38	chr12:120730800-120731400	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:120730800-120731400	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr12:120730800-120731600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:120730800-120731600	Active TSS	Brain Germinal Matrix	brain
42	chr12:120730800-120731600	Active TSS	Fetal Brain Male	brain
43	chr12:120730800-120731600	Enhancers	Stomach Mucosa	stomach
44	chr12:120731000-120731400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:120731000-120731400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:120731000-120731400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:120731000-120731400	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:120731000-120731400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr12:120731000-120731400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:120731000-120731400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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