Variant report

Variant	rs369448186
Chromosome Location	chr12:56552214-56552215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:494)
CpG islands
(count:0)
Chromatin interactive
region (count:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56551094-56558885	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:56551096-56559842	GM12878	blood:	n/a	n/a
3	PAX5	chr12:56551943-56552675	GM12878	blood:	n/a	chr12:56552621-56552630
4	TCF12	chr12:56550943-56553118	ECC-1	luminal epithelium:	n/a	n/a
5	TAF1	chr12:56551940-56552461	PFSK-1	brain:	n/a	n/a
6	JUND	chr12:56551902-56552308	H1-hESC	embryonic stem cell:	n/a	chr12:56552095-56552104
7	POLR2A	chr12:56551899-56559978	HUVEC	blood vessel:	n/a	n/a
8	ARID3A	chr12:56551510-56552276	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:56551937-56557019	Hela-S3	cervix:	n/a	n/a
10	REST	chr12:56551936-56552427	PFSK-1	brain:	n/a	n/a
11	CUX1	chr12:56552015-56552414	K562	blood:	n/a	n/a
12	POLR2A	chr12:56550969-56558589	GM12892	blood:	n/a	n/a
13	POLR2A	chr12:56551944-56557093	GM12892	blood:	n/a	n/a
14	REST	chr12:56551917-56552376	K562	blood:	n/a	n/a
15	POLR2A	chr12:56551911-56556101	SK-N-SH	brain:	n/a	n/a
16	IRF1	chr12:56551513-56552858	K562	blood:	n/a	chr12:56552640-56552654 chr12:56552073-56552082
17	POLR2A	chr12:56551975-56552429	GM10847	blood:	n/a	n/a
18	TAF7	chr12:56551952-56552512	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYBL2	chr12:56551112-56552665	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:56551250-56558611	U87	brain:	n/a	n/a
21	TAF1	chr12:56551938-56552589	A549	lung:	n/a	n/a
22	BHLHE40	chr12:56551480-56552543	GM12878	blood:	n/a	n/a
23	GATA3	chr12:56551934-56552339	T-47D	breast:	n/a	chr12:56552152-56552162 chr12:56552233-56552243
24	MAZ	chr12:56551401-56552235	HepG2	liver:	n/a	n/a
25	CEBPD	chr12:56551920-56553357	K562	blood:	n/a	n/a
26	TEAD4	chr12:56551310-56552549	SK-N-SH	brain:	n/a	n/a
27	MYC	chr12:56551578-56552235	MCF10A-Er-Src	breast:	n/a	n/a
28	TAF1	chr12:56551951-56552345	GM12878	blood:	n/a	n/a
29	MBD4	chr12:56551938-56552413	HepG2	liver:	n/a	n/a
30	POU2F2	chr12:56551504-56552600	GM12878	blood:	n/a	chr12:56551825-56551837 chr12:56551803-56551815 chr12:56552544-56552556
31	CREB1	chr12:56551192-56552562	HepG2	liver:	n/a	chr12:56552093-56552106
32	TAF1	chr12:56551935-56552522	K562	blood:	n/a	n/a
33	STAT5A	chr12:56551925-56553724	GM12878	blood:	n/a	chr12:56552662-56552670 chr12:56552231-56552239
34	JUND	chr12:56551919-56552542	SK-N-SH	brain:	n/a	chr12:56552095-56552104
35	RELA	chr12:56551106-56552534	GM15510	blood:	n/a	n/a
36	TAF1	chr12:56551058-56552510	H1-neurons	neurons:	n/a	n/a
37	TCF3	chr12:56551931-56552402	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:56551826-56552491	A549	lung:	n/a	n/a
39	SP1	chr12:56551931-56552518	GM12878	blood:	n/a	chr12:56552015-56552024 chr12:56552241-56552254 chr12:56552015-56552024 chr12:56552062-56552083 chr12:56552303-56552317 chr12:56552015-56552025
40	POLR2A	chr12:56551168-56556161	H1-hESC	embryonic stem cell:	n/a	n/a
41	EP300	chr12:56551421-56552481	A549	lung:	n/a	n/a
42	RFX5	chr12:56551275-56552357	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr12:56552042-56552657	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:56551896-56556539	HCT-116	colon:	n/a	n/a
45	CTCF	chr12:56551055-56552716	A549	lung:	n/a	n/a
46	JUND	chr12:56551926-56552320	HepG2	liver:	n/a	chr12:56552095-56552104
47	POLR2A	chr12:56551408-56556564	K562	blood:	n/a	n/a
48	YY1	chr12:56552001-56552360	K562	blood:	n/a	chr12:56552181-56552193 chr12:56552175-56552195
49	MAX	chr12:56551191-56552570	GM12878	blood:	n/a	chr12:56551393-56551403
50	MAX	chr12:56551151-56552220	SK-N-SH	brain:	n/a	chr12:56551393-56551403

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:56551774..56552533-chr7:5569851..5571111,3	Hela-S3	cervix:
2	chr12:56550673..56553390-chr18:11908435..11911361,2	MCF-7	breast:
3	chr12:56471332..56475358-chr12:56550630..56554454,5	MCF-7	breast:
4	chr12:56434374..56437071-chr12:56550642..56553636,4	MCF-7	breast:
5	chr12:56551919..56552646-chr2:99797563..99798171,2	Hela-S3	cervix:
6	chr12:56507747..56515530-chr12:56549896..56559767,36	MCF-7	breast:
7	chr12:56209755..56212447-chr12:56551879..56553739,2	MCF-7	breast:
8	chr12:56551784..56552504-chr2:25194556..25195403,2	Hela-S3	cervix:
9	chr1:144533652..144534300-chr12:56552105..56553643,4	Hela-S3	cervix:
10	chr12:56551814..56552599-chr5:130506602..130507176,2	NB4	blood:
11	chr1:171711044..171711901-chr12:56552077..56552933,3	Hela-S3	cervix:
12	chr12:56552101..56552669-chr2:128458498..128459140,2	Hela-S3	cervix:
13	chr12:56434567..56436421-chr12:56551645..56554362,3	MCF-7	breast:
14	chr12:56552050..56552857-chrX:53710656..53711232,2	Hela-S3	cervix:
15	chr1:954847..956980-chr12:56550477..56552880,2	MCF-7	breast:
16	chr12:56551653..56553251-chr6:27776259..27779166,2	MCF-7	breast:
17	chr12:56551311..56554280-chr12:56613250..56616267,3	MCF-7	breast:
18	chr12:56531568..56534983-chr12:56550075..56554520,6	MCF-7	breast:
19	chr12:56480457..56482671-chr12:56551431..56553649,2	MCF-7	breast:
20	chr11:64073223..64074022-chr12:56551543..56552410,2	Hela-S3	cervix:
21	chr12:56516279..56526040-chr12:56550254..56554953,37	MCF-7	breast:
22	chr12:56552067..56552694-chr17:73775414..73776209,2	Hela-S3	cervix:
23	chr12:56549760..56554422-chr12:56650832..56654963,6	MCF-7	breast:
24	chr11:61734073..61736809-chr12:56551929..56554147,2	MCF-7	breast:
25	chr12:56552187..56553182-chr6:74230104..74231036,2	Hela-S3	cervix:
26	chr12:56434092..56435829-chr12:56551661..56553282,2	K562	blood:
27	chr12:56551838..56552458-chr7:21984929..21985891,2	HCT-116	colon:
28	chr12:56552002..56552652-chr17:27181739..27182412,2	Hela-S3	cervix:
29	chr12:56551529..56552322-chr2:37458364..37459177,2	Hela-S3	cervix:
30	chr1:100503008..100503955-chr12:56551709..56552540,2	Hela-S3	cervix:
31	chr12:56536501..56538802-chr12:56552198..56554579,2	MCF-7	breast:
32	chr12:56529351..56534783-chr12:56551483..56555184,6	MCF-7	breast:
33	chr12:56550178..56557145-chr12:56575233..56584234,22	MCF-7	breast:
34	chr12:56497819..56500036-chr12:56550546..56554351,4	MCF-7	breast:
35	chr1:233463379..233463908-chr12:56551940..56552609,2	Hela-S3	cervix:
36	chr12:56551379..56552214-chr17:7387390..7388334,3	Hela-S3	cervix:
37	chr12:56473103..56475967-chr12:56549779..56553082,5	MCF-7	breast:
38	chr12:56552000..56552966-chr5:141488158..141488709,2	Hela-S3	cervix:
39	chr12:56551520..56554242-chr12:56650975..56653538,2	MCF-7	breast:
40	chr11:82996671..82997589-chr12:56552142..56552833,2	Hela-S3	cervix:
41	chr12:56508092..56528020-chr12:56536122..56568603,201	MCF-7	breast:
42	chr11:62608565..62609563-chr12:56551616..56552619,4	Hela-S3	cervix:
43	chr12:56551925..56552499-chr16:66730087..66730898,2	Hela-S3	cervix:
44	chr12:56475818..56478694-chr12:56550865..56553540,2	MCF-7	breast:
45	chr12:56551685..56552542-chr17:56708452..56709440,2	HCT-116	colon:
46	chr12:56549752..56553222-chr12:56691115..56694737,3	K562	blood:
47	chr12:56551630..56552606-chr15:65596629..65597325,3	Hela-S3	cervix:
48	chr12:56551805..56552522-chr13:77600819..77601817,2	Hela-S3	cervix:
49	chr12:53843995..53846384-chr12:56551140..56553594,2	MCF-7	breast:
50	chr12:56551730..56554656-chr12:57027945..57032236,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257809	TF binding region
MYL6	TF binding region
ENSG00000197111	Chromatin interaction
ENSG00000156875	Chromatin interaction
ENSG00000269089	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000188157	Chromatin interaction
ENSG00000086758	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000139645	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000167996	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000259826	Chromatin interaction
ENSG00000224165	Chromatin interaction
ENSG00000173349	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000173065	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000132591	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000183723	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000166226	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000164649	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000137500	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000255234	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000128915	Chromatin interaction
ENSG00000245534	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000115137	Chromatin interaction
ENSG00000143674	Chromatin interaction
ENSG00000258317	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000166002	Chromatin interaction
ENSG00000131507	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000005812	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000186687	Chromatin interaction
ENSG00000135469	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv559011	chr12:56551249-56555022	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
3	nsv559012	chr12:56551249-56555360	Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv559013	chr12:56551249-56556389	Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv559014	chr12:56551250-56555022	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
6	nsv559015	chr12:56551480-56555022	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56550600-56552400	Active TSS	Fetal Lung	lung
2	chr12:56550600-56553000	Active TSS	GM12878-XiMat	blood
3	chr12:56550600-56553200	Active TSS	Fetal Brain Female	brain
4	chr12:56550800-56552400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:56550800-56552600	Active TSS	Brain Angular Gyrus	brain
6	chr12:56550800-56552600	Active TSS	Fetal Brain Male	brain
7	chr12:56550800-56553000	Active TSS	Brain Anterior Caudate	brain
8	chr12:56550800-56553200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:56550800-56553200	Active TSS	Fetal Kidney	kidney
10	chr12:56550800-56553200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr12:56550800-56553200	Active TSS	NHDF-Ad	bronchial
12	chr12:56550800-56553400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:56550800-56553400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:56550800-56553400	Active TSS	Fetal Intestine Large	intestine
15	chr12:56550800-56553600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:56551000-56552400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:56551000-56552800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr12:56551000-56552800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:56551000-56552800	Active TSS	Fetal Stomach	stomach
20	chr12:56551000-56553000	Active TSS	Brain Hippocampus Middle	brain
21	chr12:56551000-56553000	Active TSS	Brain Substantia Nigra	brain
22	chr12:56551000-56553200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr12:56551000-56553200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:56551000-56553200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:56551000-56553200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:56551000-56553200	Active TSS	Primary T cells from cord blood	blood
27	chr12:56551000-56553200	Active TSS	Colon Smooth Muscle	Colon
28	chr12:56551000-56553200	Active TSS	Esophagus	oesophagus
29	chr12:56551000-56553200	Active TSS	Left Ventricle	heart
30	chr12:56551000-56553400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:56551000-56553400	Active TSS	Aorta	Aorta
32	chr12:56551000-56553400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:56551000-56553400	Active TSS	Pancreas	Pancrea
34	chr12:56551000-56553600	Active TSS	Gastric	stomach
35	chr12:56551000-56554400	Active TSS	Ovary	ovary
36	chr12:56551200-56552600	Active TSS	A549	lung
37	chr12:56551200-56553200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr12:56551200-56553400	Active TSS	Psoas Muscle	Psoas
39	chr12:56551200-56553400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr12:56551200-56554200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:56551400-56552400	Active TSS	Primary B cells from peripheral blood	blood
42	chr12:56551400-56552400	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr12:56551400-56552600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr12:56551400-56552600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:56551400-56552800	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr12:56551400-56552800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr12:56551400-56552800	Active TSS	Thymus	Thymus
48	chr12:56551400-56553000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:56551400-56553000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:56551400-56553000	Active TSS	Breast Myoepithelial Primary Cells	Breast

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