Variant report

Variant	rs12318065
Chromosome Location	chr12:58120276-58120277
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:58119918-58120552	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr12:58119816-58120300	MCF-7	breast:	n/a	n/a
3	GATA3	chr12:58119527-58121014	A549	lung:	n/a	n/a
4	SP1	chr12:58119575-58120932	A549	lung:	n/a	n/a
5	CTCF	chr12:58119827-58120545	NHEK	skin:	n/a	n/a
6	POLR2A	chr12:58119541-58121078	U87	brain:	n/a	n/a
7	MAX	chr12:58119633-58120972	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:58119537-58120740	HCT-116	colon:	n/a	n/a
9	POLR2A	chr12:58119599-58120829	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr12:58119752-58120749	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:58119719-58120791	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr12:58119729-58120394	MCF-7	breast:	n/a	n/a
13	POLR2A	chr12:58119719-58120744	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr12:58119726-58120904	A549	lung:	n/a	n/a
15	POLR2A	chr12:58119730-58120712	A549	lung:	n/a	n/a
16	CTBP2	chr12:58119696-58120418	H1-hESC	embryonic stem cell:	n/a	n/a
17	PML	chr12:58119792-58120790	MCF-7	breast:	n/a	n/a
18	MAX	chr12:58119784-58120672	Hela-S3	cervix:	n/a	n/a
19	HA-E2F1	chr12:58119746-58120995	MCF-7	breast:	n/a	chr12:58120688-58120700 chr12:58120627-58120637 chr12:58120689-58120696 chr12:58120689-58120696 chr12:58120451-58120462 chr12:58120689-58120696
20	POLR2A	chr12:58119721-58120721	Hela-S3	cervix:	n/a	n/a
21	ELF1	chr12:58119725-58121458	MCF-7	breast:	n/a	chr12:58120659-58120668 chr12:58120658-58120669 chr12:58120625-58120637 chr12:58120658-58120669
22	POLR2A	chr12:58119584-58120846	Hela-S3	cervix:	n/a	n/a
23	REST	chr12:58119951-58121889	PFSK-1	brain:	n/a	chr12:58121664-58121684 chr12:58121664-58121678 chr12:58121664-58121684 chr12:58121666-58121676 chr12:58121665-58121683 chr12:58121664-58121684
24	POLR2A	chr12:58119535-58120692	HCT-116	colon:	n/a	n/a
25	SMARCC1	chr12:58119695-58121024	Hela-S3	cervix:	n/a	n/a
26	SIN3A	chr12:58119699-58121905	H1-hESC	embryonic stem cell:	n/a	chr12:58121665-58121679 chr12:58121666-58121675
27	MAX	chr12:58119648-58121969	ECC-1	luminal epithelium:	n/a	n/a
28	RFX5	chr12:58119726-58120617	Hela-S3	cervix:	n/a	n/a
29	ZNF143	chr12:58119808-58120427	Hela-S3	cervix:	n/a	n/a
30	SIN3AK20	chr12:58119805-58120347	A549	lung:	n/a	n/a
31	POLR2A	chr12:58119743-58120805	Gliobla	brain:	n/a	n/a
32	MAZ	chr12:58119835-58120588	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr12:58119702-58121057	SK-N-SH	brain:	n/a	n/a
34	HCFC1	chr12:58119542-58120855	Hela-S3	cervix:	n/a	n/a
35	HA-E2F1	chr12:58119794-58120864	Hela-S3	cervix:	n/a	chr12:58120688-58120700 chr12:58120627-58120637 chr12:58120689-58120696 chr12:58120689-58120696 chr12:58120451-58120462 chr12:58120689-58120696
36	ZBTB7A	chr12:58119529-58121173	ECC-1	luminal epithelium:	n/a	n/a
37	HDAC2	chr12:58119824-58120682	HepG2	liver:	n/a	n/a
38	MAX	chr12:58119884-58120610	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:58119703-58120353	SK-N-MC	brain:	n/a	n/a
40	RAD21	chr12:58119664-58120429	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr12:58120159-58120613	HUVEC	blood vessel:	n/a	n/a
42	E2F6	chr12:58119711-58121033	A549	lung:	n/a	chr12:58120688-58120700 chr12:58120627-58120637 chr12:58120689-58120696 chr12:58120689-58120696 chr12:58120689-58120696
43	HDAC2	chr12:58119826-58120347	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr12:58120269-58121892	ECC-1	luminal epithelium:	n/a	chr12:58120629-58120638
45	POLR2A	chr12:58119825-58120607	HUVEC	blood vessel:	n/a	n/a
46	MYC	chr12:58119681-58120905	A549	lung:	n/a	n/a
47	POLR2A	chr12:58119709-58120963	A549	lung:	n/a	n/a
48	POLR2A	chr12:58119680-58120627	HCT-116	colon:	n/a	n/a
49	POLR2A	chr12:58119715-58120696	ProgFib	skin:	n/a	n/a
50	E2F6	chr12:58119530-58121095	A549	lung:	n/a	chr12:58120688-58120700 chr12:58120627-58120637 chr12:58120689-58120696 chr12:58120689-58120696 chr12:58120689-58120696

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58120237-58120287	HCM	heart:	n/a
2	chr12:58120237-58120287	ProgFib	skin:	n/a
3	chr12:58120237-58120287	HepG2	liver:	n/a
4	chr12:58120237-58120287	NT2-D1	testis:	n/a
5	chr12:58120237-58120287	RPTEC	kidney:	n/a
6	chr12:58120237-58120287	GM12892	blood:	n/a
7	chr12:58120237-58120287	U87	brain:	n/a
8	chr12:58120237-58120287	SAEC	small airway:	n/a
9	chr12:58120237-58120287	AG09319	gingival:	n/a
10	chr12:58120237-58120287	H1-hESC	embryonic stem cell:	embryo
11	chr12:58120237-58120287	SK-N-SH_RA	brain:	n/a
12	chr12:58120237-58120287	HL-60	blood:	n/a
13	chr12:58120237-58120287	HCPEpiC	choroid plexus:	n/a
14	chr12:58120237-58120287	K562	blood:	n/a
15	chr12:58120237-58120287	HMEC	breast:	n/a
16	chr12:58120237-58120287	HUVEC	blood vessel:	n/a
17	chr12:58120237-58120287	GM06990	blood:	n/a
18	chr12:58120237-58120287	NB4	blood:	n/a
19	chr12:58120237-58120287	BJ	skin:	n/a
20	chr12:58120237-58120287	Jurkat	blood:	n/a
21	chr12:58120237-58120287	HNPCEpiC	eye:	n/a
22	chr12:58120237-58120287	SK-N-MC	brain:	n/a
23	chr12:58120237-58120287	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:58120237-58120287	HRPEpiC	eye:	n/a
25	chr12:58120237-58120287	GM12878	blood:	n/a
26	chr12:58120237-58120287	HEEpiC	esophagus:	n/a
27	chr12:58120237-58120287	HCF	heart:	n/a
28	chr12:58120237-58120287	MCF10A-Er-Src	breast:	n/a
29	chr12:58120237-58120287	PFSK-1	brain:	n/a
30	chr12:58120237-58120287	LNCaP	prostate:	n/a
31	chr12:58120237-58120287	HAEpiC	amniotic membrane:	n/a
32	chr12:58120237-58120287	Caco-2	colon:	n/a
33	chr12:58120237-58120287	GM12891	blood:	n/a
34	chr12:58120237-58120287	ovcar-3	ovarian:	n/a
35	chr12:58120237-58120287	AG04449	skin:	fetal
36	chr12:58120237-58120287	HIPEpiC	eye:	n/a
37	chr12:58120237-58120287	SK-N-SH	brain:	n/a
38	chr12:58120237-58120287	PrEC	prostate:	n/a
39	chr12:58120237-58120287	Hela-S3	cervix:	n/a
40	chr12:58120237-58120287	ECC-1	luminal epithelium:	n/a
41	chr12:58120237-58120287	Hepatocyte	liver:	n/a
42	chr12:58120237-58120287	HEK293	kidney:	embryo
43	chr12:58120237-58120287	MCF-7	breast:	n/a
44	chr12:58120237-58120287	AoSMC	blood vessel:	n/a
45	chr12:58120237-58120287	IMR90	lung:	fetal
46	chr12:58120237-58120287	A549	lung:	n/a
47	chr12:58120237-58120287	AG04450	lung:	fetal
48	chr12:58120237-58120287	NHDF-neo	bronchial:	n/a
49	chr12:58120237-58120287	NH-A	brain:	n/a
50	chr12:58120237-58120287	T-47D	breast:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57912789..57915911-chr12:58119258..58122771,4	MCF-7	breast:
2	chr12:58002964..58008004-chr12:58117447..58122099,5	MCF-7	breast:
3	chr12:58119624..58120427-chr12:58131646..58132182,3	MCF-7	breast:
4	chr12:58026571..58028240-chr12:58118727..58121626,2	MCF-7	breast:
5	chr12:57912267..57913858-chr12:58118505..58121411,2	MCF-7	breast:
6	chr12:57940714..57942505-chr12:58117953..58120525,2	MCF-7	breast:
7	chr12:58085694..58088995-chr12:58116929..58123534,7	MCF-7	breast:
8	chr12:57992481..57994669-chr12:58118545..58120936,2	MCF-7	breast:
9	chr12:57915482..57918597-chr12:58119014..58121092,3	MCF-7	breast:
10	chr12:58119467..58120431-chr2:220042425..220043204,2	Hela-S3	cervix:
11	chr12:57855194..57858007-chr12:58120143..58122352,2	MCF-7	breast:
12	chr12:58119848..58122577-chr12:58123317..58125774,4	K562	blood:
13	chr12:58085407..58089363-chr12:58117669..58123604,12	MCF-7	breast:
14	chr12:57983656..57985947-chr12:58119170..58122047,3	MCF-7	breast:
15	chr12:58009848..58012356-chr12:58118975..58121392,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257342	TF binding region
ENSG00000257499	TF binding region
ENSG00000257342	CpG island
ENSG00000257499	CpG island
ENSG00000166908	Chromatin interaction
ENSG00000115649	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000144567	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000135439	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11172302	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11172305	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172310	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12296750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12307841	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12422249	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12424011	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2239891	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34854770	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3893002	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4760169	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv1851618	chr12:58109302-58131947	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv826383	chr12:58118080-58123647	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv899122	chr12:58118248-58137563	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58114000-58120600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:58115000-58120800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:58115200-58123600	Weak transcription	GM12878-XiMat	blood
4	chr12:58115600-58124000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:58118400-58132000	Strong transcription	Primary T cells from cord blood	blood
6	chr12:58119200-58120800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:58119200-58120800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:58119200-58120800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:58119200-58122000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:58119200-58132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:58119400-58122800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:58119600-58120400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
13	chr12:58119600-58120400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr12:58119600-58120400	Flanking Active TSS	Osteobl	bone
15	chr12:58119600-58120600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:58119600-58120800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:58119600-58120800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:58119600-58120800	Active TSS	Muscle Satellite Cultured Cells	--
19	chr12:58119600-58120800	Active TSS	NHDF-Ad	bronchial
20	chr12:58119600-58121000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:58119600-58121000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr12:58119600-58121000	Active TSS	HSMMtube	muscle
23	chr12:58119600-58121000	Active TSS	NHLF	lung
24	chr12:58119600-58121200	ZNF genes & repeats	Fetal Thymus	thymus
25	chr12:58119600-58121600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr12:58119600-58121600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr12:58119600-58121600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:58119600-58121600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:58119600-58121600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:58119600-58121600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr12:58119600-58122000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:58119600-58122000	Strong transcription	Dnd41	blood
33	chr12:58119600-58122200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:58119600-58130400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:58119600-58130400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:58119600-58131200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:58119600-58131400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:58119600-58132400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:58119600-58132800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:58119600-58133000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:58119800-58120400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr12:58119800-58120400	Flanking Active TSS	Placenta	Placenta
43	chr12:58119800-58120400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr12:58119800-58120400	Flanking Active TSS	Ovary	ovary
45	chr12:58119800-58120400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr12:58119800-58120600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr12:58119800-58120600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:58119800-58120600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:58119800-58120800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:58119800-58120800	Active TSS	Brain Angular Gyrus	brain

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