Variant report

Variant	rs576879406
Chromosome Location	chr12:57917138-57917139
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57916882-57919110	U87	brain:	n/a	n/a
2	POLR2A	chr12:57915733-57918696	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:57915282-57917210	GM19099	blood:	n/a	n/a
4	SMARCB1	chr12:57915936-57917381	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:57916844-57917719	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:57917038-57917781	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:57916901-57917274	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr12:57916895-57917329	K562	blood:	n/a	n/a
9	PRDM1	chr12:57917086-57917248	Hela-S3	cervix:	n/a	chr12:57917086-57917100 chr12:57917090-57917099
10	POLR2A	chr12:57915393-57917444	GM19193	blood:	n/a	n/a
11	MAX	chr12:57915660-57917188	H1-hESC	embryonic stem cell:	n/a	chr12:57916339-57916349 chr12:57916084-57916093 chr12:57916730-57916740
12	POLR2A	chr12:57916931-57917924	U87	brain:	n/a	n/a
13	POLR2A	chr12:57916892-57917259	GM12892	blood:	n/a	n/a
14	POLR2A	chr12:57913349-57917243	Raji	blood:	n/a	n/a
15	NFATC1	chr12:57916980-57917584	GM12878	blood:	n/a	n/a
16	CHD2	chr12:57915503-57917183	GM12878	blood:	n/a	n/a
17	HCFC1	chr12:57915227-57917771	Hela-S3	cervix:	n/a	n/a
18	BCL3	chr12:57916903-57917779	A549	lung:	n/a	chr12:57917163-57917172
19	POLR2A	chr12:57912918-57917367	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:57915483-57918252	Hela-S3	cervix:	n/a	n/a
21	TBP	chr12:57916986-57917185	H1-hESC	embryonic stem cell:	n/a	n/a
22	BHLHE40	chr12:57916998-57917284	K562	blood:	n/a	n/a
23	REST	chr12:57915218-57917582	H1-neurons	neurons:	n/a	chr12:57916449-57916458 chr12:57915324-57915338 chr12:57916602-57916615
24	TAF1	chr12:57916865-57917235	K562	blood:	n/a	n/a
25	BCL3	chr12:57916907-57917922	A549	lung:	n/a	chr12:57917163-57917172
26	POLR2A	chr12:57916867-57917746	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr12:57916912-57917845	HCT-116	colon:	n/a	n/a
28	ELF1	chr12:57916908-57917196	K562	blood:	n/a	n/a
29	ZBTB7A	chr12:57916728-57917238	K562	blood:	n/a	n/a
30	MTA3	chr12:57916889-57918162	GM12878	blood:	n/a	n/a
31	MAZ	chr12:57915727-57917823	GM12878	blood:	n/a	chr12:57916339-57916349 chr12:57916084-57916093 chr12:57916730-57916740
32	POLR2A	chr12:57911713-57919299	SK-N-MC	brain:	n/a	n/a
33	TBL1XR1	chr12:57917118-57917142	K562	blood:	n/a	n/a
34	PML	chr12:57916912-57918215	GM12878	blood:	n/a	n/a
35	MYC	chr12:57916909-57917153	NB4	blood:	n/a	n/a
36	POLR2A	chr12:57916947-57917652	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr12:57915896-57917240	MCF-7	breast:	n/a	n/a
38	POLR2A	chr12:57915797-57918188	Hela-S3	cervix:	n/a	n/a
39	MAX	chr12:57916921-57917537	NB4	blood:	n/a	n/a
40	POLR2A	chr12:57915482-57917176	GM12892	blood:	n/a	n/a
41	POLR2A	chr12:57917054-57917316	H1-hESC	embryonic stem cell:	n/a	n/a
42	ELF1	chr12:57916888-57917176	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:57916893-57917161	HepG2	liver:	n/a	n/a
44	TEAD4	chr12:57916833-57917616	K562	blood:	n/a	n/a
45	POLR2A	chr12:57915668-57917408	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr12:57915689-57917735	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:57916477-57917217	NB4	blood:	n/a	n/a
48	POLR2A	chr12:57915779-57917196	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:57908382-57921207	K562	blood:	n/a	n/a
50	EGR1	chr12:57916583-57917164	K562	blood:	n/a	chr12:57916726-57916739 chr12:57916725-57916740 chr12:57916621-57916630 chr12:57916763-57916773 chr12:57916994-57917007 chr12:57916731-57916746

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:
2	chr12:57915553..57917499-chr12:58144787..58147876,3	K562	blood:
3	chr12:57915482..57918597-chr12:58119014..58121092,3	MCF-7	breast:
4	chr12:57914556..57917935-chr12:58138142..58139921,3	K562	blood:
5	chr12:57916512..57918954-chr12:58138893..58140769,2	MCF-7	breast:
6	chr12:57915284..57917737-chr12:58135302..58137824,2	K562	blood:
7	chr12:57890108..57896575-chr12:57912675..57917509,9	MCF-7	breast:
8	chr12:57852034..57858739-chr12:57911478..57917144,8	MCF-7	breast:
9	chr12:57916469..57918452-chr12:58024223..58025919,2	K562	blood:
10	chr12:57880552..57883318-chr12:57915762..57917586,2	MCF-7	breast:
11	chr12:57082052..57084048-chr12:57915298..57917787,2	K562	blood:
12	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:
13	chr12:57848374..57850176-chr12:57916596..57918121,2	MCF-7	breast:
14	chr12:57915543..57917497-chr12:58086337..58088295,2	K562	blood:
15	chr12:57916381..57918711-chr12:58131475..58134282,2	MCF-7	breast:
16	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
17	chr12:57916425..57917289-chr19:34286550..34287279,2	Hela-S3	cervix:
18	chr12:57911699..57918406-chr12:58000825..58010019,18	K562	blood:
19	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:
20	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
21	chr12:57633994..57636075-chr12:57915508..57917447,2	MCF-7	breast:
22	chr12:57912826..57917389-chr12:58135038..58139778,7	K562	blood:
23	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:
24	chr12:57881044..57886958-chr12:57910925..57918058,16	MCF-7	breast:
25	chr12:57022647..57024200-chr12:57914348..57917342,2	MCF-7	breast:
26	chr12:57915577..57917168-chr12:58328157..58330221,2	K562	blood:
27	chr12:57916409..57919050-chr12:57983099..57985919,3	MCF-7	breast:
28	chr12:57915614..57917377-chr12:58148904..58151083,2	K562	blood:

No data

Variant related genes	Relation type
MBD6	TF binding region
MIR616	TF binding region
DDIT3	TF binding region
ENSG00000135506	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000135439	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000257698	Chromatin interaction
ENSG00000153885	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000110958	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
9	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
14	nsv899120	chr12:57886609-57921188	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
15	esv3429239	chr12:57915210-57918058	Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57912000-57917600	Active TSS	Psoas Muscle	Psoas
2	chr12:57912400-57918600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:57913800-57917400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:57915400-57917400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr12:57915800-57917200	Active TSS	Placenta Amnion	Placenta Amnion
6	chr12:57915800-57917200	Active TSS	Thymus	Thymus
7	chr12:57916000-57917200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:57916000-57917200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:57916000-57917200	Active TSS	Brain Substantia Nigra	brain
10	chr12:57916000-57917200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr12:57916000-57917200	Active TSS	Small Intestine	intestine
12	chr12:57916000-57917400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:57916000-57917400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:57916000-57917400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:57916000-57917400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr12:57916000-57917400	Active TSS	Esophagus	oesophagus
17	chr12:57916000-57917600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:57916000-57917600	Active TSS	Gastric	stomach
19	chr12:57916000-57917600	Active TSS	Ovary	ovary
20	chr12:57916000-57917800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:57916000-57917800	Active TSS	Aorta	Aorta
22	chr12:57916200-57917200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr12:57916200-57917200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:57916200-57917200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:57916200-57917200	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr12:57916200-57917200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr12:57916200-57917200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:57916200-57917200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:57916200-57917200	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr12:57916200-57917200	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr12:57916200-57917200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:57916200-57917200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:57916200-57917200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:57916200-57917200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:57916200-57917200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:57916200-57917200	Active TSS	Liver	Liver
37	chr12:57916200-57917200	Active TSS	Brain Angular Gyrus	brain
38	chr12:57916200-57917200	Active TSS	Brain Anterior Caudate	brain
39	chr12:57916200-57917200	Active TSS	Brain Cingulate Gyrus	brain
40	chr12:57916200-57917200	Active TSS	Brain Germinal Matrix	brain
41	chr12:57916200-57917200	Active TSS	Colon Smooth Muscle	Colon
42	chr12:57916200-57917200	Active TSS	Fetal Intestine Small	intestine
43	chr12:57916200-57917200	Active TSS	Fetal Lung	lung
44	chr12:57916200-57917200	Active TSS	Pancreas	Pancrea
45	chr12:57916200-57917200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr12:57916200-57917200	Active TSS	A549	lung
47	chr12:57916200-57917200	Active TSS	GM12878-XiMat	blood
48	chr12:57916200-57917200	Active TSS	Hela-S3	cervix
49	chr12:57916200-57917200	Active TSS	HUVEC	blood vessel
50	chr12:57916200-57917200	Active TSS	NHLF	lung

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