Variant report

Variant	rs528122845
Chromosome Location	chr12:58139507-58139508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:199)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:199 , 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	chr12:58137594-58141397	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr12:58139448-58139826	A549	lung:	n/a	n/a
3	GABPA	chr12:58138048-58139625	SK-N-SH	brain:	n/a	n/a
4	ZNF384	chr12:58138243-58139573	K562	blood:	n/a	n/a
5	RCOR1	chr12:58137549-58139911	IMR90	lung:	n/a	n/a
6	POLR2A	chr12:58138018-58141554	U87	brain:	n/a	n/a
7	POLR2A	chr12:58138353-58140751	PANC-1	pancreas:	n/a	n/a
8	ATF2	chr12:58138004-58139627	H1-hESC	embryonic stem cell:	n/a	chr12:58138716-58138730
9	GABPA	chr12:58138266-58139705	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr12:58138231-58140454	HUVEC	blood vessel:	n/a	n/a
11	NFIC	chr12:58138687-58139580	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr12:58138221-58139779	MCF-7	breast:	n/a	n/a
13	SIN3A	chr12:58138243-58139534	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:58137470-58141468	A549	lung:	n/a	n/a
15	POLR2A	chr12:58138094-58140899	GM12891	blood:	n/a	n/a
16	PBX3	chr12:58138117-58139864	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr12:58138164-58140606	NB4	blood:	n/a	n/a
18	POLR2A	chr12:58138445-58139808	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:58138172-58140310	Raji	blood:	n/a	n/a
20	PML	chr12:58139477-58140188	K562	blood:	n/a	n/a
21	JUN	chr12:58137911-58139853	K562	blood:	n/a	chr12:58138715-58138728 chr12:58138719-58138728
22	POLR2A	chr12:58138326-58141516	HepG2	liver:	n/a	n/a
23	MAZ	chr12:58138225-58139679	Hela-S3	cervix:	n/a	chr12:58139191-58139201
24	POLR2A	chr12:58138078-58140660	HUVEC	blood vessel:	n/a	n/a
25	REST	chr12:58137858-58139630	H1-neurons	neurons:	n/a	n/a
26	NFATC1	chr12:58138142-58140471	GM12878	blood:	n/a	n/a
27	CREB1	chr12:58137865-58140264	GM12878	blood:	n/a	chr12:58138717-58138730
28	POLR2A	chr12:58138319-58140617	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr12:58138349-58141097	U87	brain:	n/a	n/a
30	MAZ	chr12:58138246-58140431	K562	blood:	n/a	chr12:58139191-58139201
31	BCL3	chr12:58138251-58139761	GM12878	blood:	n/a	chr12:58139114-58139123 chr12:58139064-58139073
32	POLR2A	chr12:58138116-58141537	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr12:58137917-58140713	Hela-S3	cervix:	n/a	n/a
34	ELK1	chr12:58138517-58139551	GM12878	blood:	n/a	chr12:58139162-58139171 chr12:58139114-58139123 chr12:58139114-58139123 chr12:58139162-58139171 chr12:58139064-58139073 chr12:58139064-58139073
35	JUND	chr12:58138260-58139887	A549	lung:	n/a	chr12:58138719-58138728
36	POLR2A	chr12:58137755-58141516	HepG2	liver:	n/a	n/a
37	ZNF143	chr12:58138306-58139608	H1-hESC	embryonic stem cell:	n/a	n/a
38	RUNX3	chr12:58138091-58139546	GM12878	blood:	n/a	n/a
39	SIN3AK20	chr12:58138219-58139769	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr12:58137911-58141493	GM12892	blood:	n/a	n/a
41	POLR2A	chr12:58138114-58139851	H1-hESC	embryonic stem cell:	n/a	n/a
42	GATA3	chr12:58138020-58139865	A549	lung:	n/a	chr12:58138826-58138834
43	GABPA	chr12:58138510-58139692	A549	lung:	n/a	n/a
44	TEAD4	chr12:58138058-58140042	ECC-1	luminal epithelium:	n/a	n/a
45	PML	chr12:58138039-58141137	K562	blood:	n/a	n/a
46	JUND	chr12:58137891-58139910	SK-N-SH	brain:	n/a	chr12:58138719-58138728
47	POLR2A	chr12:58138223-58141528	K562	blood:	n/a	n/a
48	POLR2A	chr12:58138036-58139922	HCT-116	colon:	n/a	n/a
49	NFATC1	chr12:58138007-58140268	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:58138050-58141458	GM12878	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57983992..57986489-chr12:58138776..58141177,2	MCF-7	breast:
2	chr12:57912759..57917021-chr12:58137187..58141030,5	MCF-7	breast:
3	chr12:57929794..57931809-chr12:58137772..58140062,2	MCF-7	breast:
4	chr12:57914556..57917935-chr12:58138142..58139921,3	K562	blood:
5	chr12:57985035..57986943-chr12:58137813..58139906,2	K562	blood:
6	chr12:57984385..57986376-chr12:58138351..58140314,2	K562	blood:
7	chr12:58137583..58140333-chr12:58207188..58209651,2	K562	blood:
8	chr12:57912826..57917389-chr12:58135038..58139778,7	K562	blood:
9	chr12:58138996..58139662-chr6:30293787..30294571,2	HCT-116	colon:
10	chr12:57916512..57918954-chr12:58138893..58140769,2	MCF-7	breast:
11	chr12:57940849..57942387-chr12:58138816..58140678,2	K562	blood:
12	chr12:58086381..58087931-chr12:58138408..58140168,2	K562	blood:
13	chr12:57914544..57916510-chr12:58137621..58139842,2	MCF-7	breast:
14	chr12:57480720..57482842-chr12:58137848..58140572,2	MCF-7	breast:
15	chr12:57939918..57942387-chr12:58138816..58141058,2	K562	blood:
16	chr12:57912095..57914310-chr12:58137199..58139977,2	MCF-7	breast:

No data

Variant related genes	Relation type
AGAP2	TF binding region
TSPAN31	TF binding region
ENSG00000166886	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000135407	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000269903	Chromatin interaction
ENSG00000204599	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers 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	39 gene(s)	inside rSNPs	diseases
8	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription 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	67 gene(s)	inside rSNPs	diseases
10	nsv826386	chr12:58135303-58150535	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv973963	chr12:58138245-58145482	Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	22 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	chr12:58137800-58140000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:58138000-58139600	Active TSS	Ovary	ovary
3	chr12:58138000-58139600	Flanking Active TSS	Thymus	Thymus
4	chr12:58138000-58139600	Active TSS	HSMMtube	muscle
5	chr12:58138000-58139600	Active TSS	NHLF	lung
6	chr12:58138000-58139800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:58138000-58139800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:58138000-58139800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr12:58138000-58140000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:58138000-58140000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr12:58138000-58140000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:58138200-58139600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:58138200-58139600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr12:58138200-58139600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:58138200-58139600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:58138200-58139600	Active TSS	Aorta	Aorta
17	chr12:58138200-58139600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr12:58138200-58139600	Active TSS	Small Intestine	intestine
19	chr12:58138200-58139600	Active TSS	HSMM	muscle
20	chr12:58138200-58139800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr12:58138200-58139800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:58138200-58139800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr12:58138200-58140000	Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:58138200-58140000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:58138400-58139600	Active TSS	K562	blood
26	chr12:58138400-58139800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:58138400-58139800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr12:58138400-58139800	Active TSS	Fetal Kidney	kidney
29	chr12:58138400-58139800	Active TSS	Right Atrium	heart
30	chr12:58138800-58139600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:58138800-58139800	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr12:58138800-58139800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr12:58139000-58139600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr12:58139000-58139600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr12:58139000-58139600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:58139000-58139600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr12:58139000-58139600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr12:58139000-58139600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:58139000-58139600	Flanking Active TSS	Fetal Thymus	thymus
40	chr12:58139000-58139800	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr12:58139000-58139800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr12:58139000-58139800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr12:58139000-58139800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr12:58139000-58139800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr12:58139000-58140000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:58139000-58140200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:58139200-58139600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:58139200-58139600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:58139200-58139600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr12:58139200-58139600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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