Variant report

Variant	rs56768332
Chromosome Location	chr12:57916254-57916255
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	JUND	chr12:57915962-57916855	A549	lung:	n/a	chr12:57916792-57916800 chr12:57916131-57916140 chr12:57916342-57916351 chr12:57916346-57916355
2	E2F4	chr12:57915940-57916794	K562	blood:	n/a	chr12:57916768-57916778 chr12:57916654-57916664 chr12:57916651-57916661 chr12:57916621-57916630
3	POLR2A	chr12:57915757-57916804	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:57915733-57918696	ECC-1	luminal epithelium:	n/a	n/a
5	GTF2F1	chr12:57915810-57916255	K562	blood:	n/a	n/a
6	SPI1	chr12:57915744-57916269	HL-60	blood:	n/a	chr12:57916173-57916186
7	MAX	chr12:57915284-57916825	HepG2	liver:	n/a	chr12:57916339-57916349 chr12:57916084-57916093 chr12:57916730-57916740
8	POLR2A	chr12:57915282-57917210	GM19099	blood:	n/a	n/a
9	SIN3AK20	chr12:57916194-57916373	SK-N-SH	brain:	n/a	n/a
10	REST	chr12:57915755-57916536	H1-neurons	neurons:	n/a	chr12:57916449-57916458
11	SMARCB1	chr12:57915936-57917381	Hela-S3	cervix:	n/a	n/a
12	TCF7L2	chr12:57915816-57916369	HEK293	kidney:	n/a	chr12:57916193-57916207
13	USF1	chr12:57915791-57916295	GM12878	blood:	n/a	chr12:57916082-57916093
14	POLR2A	chr12:57915382-57916341	GM12891	blood:	n/a	n/a
15	POLR2A	chr12:57915317-57916843	GM12878	blood:	n/a	n/a
16	BACH1	chr12:57915754-57916344	K562	blood:	n/a	n/a
17	BHLHE40	chr12:57915750-57916775	GM12878	blood:	n/a	chr12:57916650-57916666 chr12:57916653-57916669 chr12:57916649-57916665
18	MAX	chr12:57915577-57916838	ECC-1	luminal epithelium:	n/a	chr12:57916339-57916349 chr12:57916084-57916093 chr12:57916730-57916740
19	EP300	chr12:57916062-57916812	H1-hESC	embryonic stem cell:	n/a	chr12:57916652-57916661
20	CEBPD	chr12:57916172-57916465	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:57916055-57916839	A549	lung:	n/a	n/a
22	BRCA1	chr12:57915703-57916411	Hela-S3	cervix:	n/a	n/a
23	SIN3AK20	chr12:57915540-57916587	MCF-7	breast:	n/a	n/a
24	USF1	chr12:57915762-57916346	A549	lung:	n/a	chr12:57916082-57916093
25	TBL1XR1	chr12:57915372-57916761	K562	blood:	n/a	n/a
26	SIN3AK20	chr12:57915744-57916361	K562	blood:	n/a	n/a
27	RELA	chr12:57915831-57916721	GM10847	blood:	n/a	n/a
28	TCF7L2	chr12:57915819-57916397	Hela-S3	cervix:	n/a	chr12:57916193-57916207
29	TAF1	chr12:57915799-57916879	H1-neurons	neurons:	n/a	n/a
30	TCF7L2	chr12:57915231-57916590	PANC-1	pancreas:	n/a	chr12:57916193-57916207
31	REST	chr12:57915778-57916481	K562	blood:	n/a	chr12:57916449-57916458
32	CEBPB	chr12:57915771-57916323	HepG2	liver:	n/a	n/a
33	POLR2A	chr12:57915393-57917444	GM19193	blood:	n/a	n/a
34	MAX	chr12:57915660-57917188	H1-hESC	embryonic stem cell:	n/a	chr12:57916339-57916349 chr12:57916084-57916093 chr12:57916730-57916740
35	MYBL2	chr12:57915492-57916486	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:57913349-57917243	Raji	blood:	n/a	n/a
37	POLR2A	chr12:57908101-57916508	PANC-1	pancreas:	n/a	n/a
38	ARID3A	chr12:57915981-57916480	HepG2	liver:	n/a	n/a
39	ZNF143	chr12:57915727-57916819	GM12878	blood:	n/a	chr12:57916573-57916588 chr12:57915803-57915818 chr12:57916572-57916591
40	TCF7L2	chr12:57915784-57916447	Hela-S3	cervix:	n/a	chr12:57916193-57916207
41	HMGN3	chr12:57916010-57917073	K562	blood:	n/a	n/a
42	RFX5	chr12:57915864-57916452	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr12:57915503-57917183	GM12878	blood:	n/a	n/a
44	EGR1	chr12:57915798-57916577	K562	blood:	n/a	chr12:57916543-57916557 chr12:57916342-57916352 chr12:57916338-57916348
45	HCFC1	chr12:57915227-57917771	Hela-S3	cervix:	n/a	n/a
46	EP300	chr12:57916085-57916734	T-47D	breast:	n/a	chr12:57916652-57916661
47	POLR2A	chr12:57912918-57917367	GM12878	blood:	n/a	n/a
48	CUX1	chr12:57915786-57916348	K562	blood:	n/a	n/a
49	POLR2A	chr12:57915483-57918252	Hela-S3	cervix:	n/a	n/a
50	NR2F2	chr12:57915162-57916655	K562	blood:	n/a	chr12:57916076-57916091

No.	Distal block	Cell Line	Cell type
1	chr12:57117159..57119489-chr12:57914533..57916753,2	K562	blood:
2	chr12:57911911..57916321-chr12:58013702..58018076,7	K562	blood:
3	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:
4	chr12:57915553..57917499-chr12:58144787..58147876,3	K562	blood:
5	chr12:57915782..57916713-chr12:58026905..58027434,2	MCF-7	breast:
6	chr12:57915482..57918597-chr12:58119014..58121092,3	MCF-7	breast:
7	chr12:57914544..57916510-chr12:58137621..58139842,2	MCF-7	breast:
8	chr12:57915798..57916394-chrX:118740034..118740679,2	Hela-S3	cervix:
9	chr12:57914556..57917935-chr12:58138142..58139921,3	K562	blood:
10	chr12:57915284..57917737-chr12:58135302..58137824,2	K562	blood:
11	chr12:57913753..57916510-chr12:57996799..57998980,2	MCF-7	breast:
12	chr12:57890108..57896575-chr12:57912675..57917509,9	MCF-7	breast:
13	chr12:57911754..57916322-chr12:58006406..58010716,5	K562	blood:
14	chr12:57852034..57858739-chr12:57911478..57917144,8	MCF-7	breast:
15	chr12:57822673..57825673-chr12:57914537..57916745,4	K562	blood:
16	chr12:57880552..57883318-chr12:57915762..57917586,2	MCF-7	breast:
17	chr12:57913857..57916876-chr12:58140485..58143986,3	K562	blood:
18	chr12:57082052..57084048-chr12:57915298..57917787,2	K562	blood:
19	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:
20	chr12:57915543..57917497-chr12:58086337..58088295,2	K562	blood:
21	chr12:57912759..57917021-chr12:58137187..58141030,5	MCF-7	breast:
22	chr12:57480746..57483234-chr12:57915069..57916762,2	MCF-7	breast:
23	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
24	chr12:57912866..57916321-chr12:58013594..58015753,4	K562	blood:
25	chr12:57911699..57918406-chr12:58000825..58010019,18	K562	blood:
26	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:
27	chr12:57914797..57916581-chr12:58144797..58147078,2	MCF-7	breast:
28	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
29	chr12:57482455..57482983-chr12:57915647..57916484,3	MCF-7	breast:
30	chr12:57633994..57636075-chr12:57915508..57917447,2	MCF-7	breast:
31	chr12:57622307..57625065-chr12:57914079..57916302,2	K562	blood:
32	chr12:57912826..57917389-chr12:58135038..58139778,7	K562	blood:
33	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:
34	chr12:57881044..57886958-chr12:57910925..57918058,16	MCF-7	breast:
35	chr12:57022647..57024200-chr12:57914348..57917342,2	MCF-7	breast:
36	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:
37	chr12:57915577..57917168-chr12:58328157..58330221,2	K562	blood:
38	chr12:57864629..57868923-chr12:57913251..57916366,4	K562	blood:
39	chr12:57915614..57917377-chr12:58148904..58151083,2	K562	blood:

Variant related genes	Relation type
DDIT3	TF binding region
MIR616	TF binding region
MBD6	TF binding region
ENSG00000166986	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000257698	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000182199	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000135439	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000240771	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	chr12:57914600-57916400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr12:57914600-57916400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:57914600-57916400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:57914600-57916400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:57914600-57916400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr12:57914800-57916400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:57914800-57916400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr12:57914800-57916400	Flanking Active TSS	Fetal Intestine Large	intestine
12	chr12:57914800-57916400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr12:57914800-57916400	Flanking Active TSS	Dnd41	blood
14	chr12:57914800-57916400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:57915000-57916400	Flanking Active TSS	Fetal Brain Female	brain
16	chr12:57915200-57916400	Flanking Active TSS	Colonic Mucosa	Colon
17	chr12:57915400-57916400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr12:57915400-57916400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr12:57915400-57916400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:57915400-57916400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr12:57915400-57916400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:57915400-57916400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr12:57915400-57916400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:57915400-57916400	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr12:57915400-57916400	Flanking Active TSS	HMEC	breast
26	chr12:57915400-57917400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr12:57915600-57916400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:57915600-57916400	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr12:57915600-57916400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:57915600-57916400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:57915600-57916400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:57915600-57916400	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr12:57915800-57916400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:57915800-57916400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr12:57915800-57916400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr12:57915800-57916400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:57915800-57916400	Flanking Active TSS	Fetal Stomach	stomach
38	chr12:57915800-57916400	Flanking Active TSS	Fetal Thymus	thymus
39	chr12:57915800-57916400	Flanking Active TSS	NH-A	brain
40	chr12:57915800-57917200	Active TSS	Placenta Amnion	Placenta Amnion
41	chr12:57915800-57917200	Active TSS	Thymus	Thymus
42	chr12:57916000-57916400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:57916000-57916400	Flanking Active TSS	Placenta	Placenta
44	chr12:57916000-57917200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr12:57916000-57917200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:57916000-57917200	Active TSS	Brain Substantia Nigra	brain
47	chr12:57916000-57917200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:57916000-57917200	Active TSS	Small Intestine	intestine
49	chr12:57916000-57917400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:57916000-57917400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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