Variant report

Variant	rs11572914
Chromosome Location	chr12:124118948-124118949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:124118062-124118963	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:124118705-124118965	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:124117806-124119812	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:124117950-124119141	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr12:124117834-124119075	GM12878	blood:	n/a	chr12:124118324-124118333 chr12:124118167-124118181 chr12:124118172-124118181 chr12:124118170-124118184
6	CREB1	chr12:124117803-124119114	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:124118685-124118984	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr12:124117748-124119054	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr12:124117898-124119373	GM12891	blood:	n/a	n/a
10	MYC	chr12:124117781-124119241	K562	blood:	n/a	n/a
11	YY1	chr12:124117916-124119007	GM12892	blood:	n/a	chr12:124118324-124118333 chr12:124118167-124118181 chr12:124118172-124118181 chr12:124118170-124118184
12	NFIC	chr12:124117807-124119210	GM12878	blood:	n/a	n/a
13	MAX	chr12:124117760-124119042	K562	blood:	n/a	n/a
14	YY1	chr12:124118779-124119079	GM12891	blood:	n/a	n/a
15	CREB1	chr12:124117850-124118949	A549	lung:	n/a	n/a
16	POLR2A	chr12:124117702-124120166	PFSK-1	brain:	n/a	n/a
17	MAX	chr12:124117603-124119321	HCT-116	colon:	n/a	n/a
18	MXI1	chr12:124117527-124119605	IMR90	lung:	n/a	n/a
19	MYC	chr12:124117651-124119266	K562	blood:	n/a	n/a
20	CREB1	chr12:124117708-124119446	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:124117804-124118982	GM12892	blood:	n/a	n/a
22	MAX	chr12:124117873-124118950	A549	lung:	n/a	n/a
23	POLR2A	chr12:124117851-124119795	GM12878	blood:	n/a	n/a
24	MAX	chr12:124117891-124118975	Hela-S3	cervix:	n/a	n/a
25	SREBP2	chr12:124117417-124119412	GM12878	blood:	n/a	n/a
26	WRNIP1	chr12:124118026-124119703	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:124117871-124118969	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr12:124117880-124119229	GM19193	blood:	n/a	n/a
29	POLR2A	chr12:124117595-124119732	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:124117775-124119926	GM12878	blood:	n/a	n/a
31	PML	chr12:124117527-124118967	K562	blood:	n/a	n/a
32	POLR2A	chr12:124117827-124119186	Hela-S3	cervix:	n/a	n/a
33	IRF1	chr12:124117746-124119266	K562	blood:	n/a	n/a
34	PML	chr12:124117540-124119437	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:124117744-124119687	K562	blood:	n/a	n/a
36	CEBPB	chr12:124118929-124119266	A549	lung:	n/a	n/a
37	MTA3	chr12:124117616-124119530	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:124117798-124119823	SK-N-MC	brain:	n/a	n/a
39	NR2F2	chr12:124117588-124119191	K562	blood:	n/a	n/a
40	POLR2A	chr12:124117567-124119816	MCF10A-Er-Src	breast:	n/a	n/a
41	GABPA	chr12:124117442-124119088	A549	lung:	n/a	n/a
42	YY1	chr12:124117979-124119056	H1-hESC	embryonic stem cell:	n/a	chr12:124118324-124118333 chr12:124118167-124118181 chr12:124118172-124118181 chr12:124118170-124118184
43	E2F6	chr12:124118748-124119028	K562	blood:	n/a	n/a
44	E2F6	chr12:124118037-124119029	K562	blood:	n/a	chr12:124118174-124118184 chr12:124118172-124118181
45	HCFC1	chr12:124117557-124119744	Hela-S3	cervix:	n/a	n/a
46	GTF3C2	chr12:124118359-124119043	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:124117751-124119836	GM12892	blood:	n/a	n/a
48	POLR2A	chr12:124117836-124118969	HL-60	blood:	n/a	n/a
49	SMARCB1	chr12:124117909-124118975	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr12:124118889-124119232	HCT-116	colon:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123716817..123718990-chr12:124117809..124119418,3	K562	blood:
2	chr12:124116825..124119400-chr12:124154444..124157055,3	MCF-7	breast:
3	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
4	chr12:124085449..124088387-chr12:124115552..124120028,6	MCF-7	breast:
5	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
6	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
7	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
8	chr12:124068831..124072178-chr12:124116882..124120107,5	K562	blood:
9	chr12:124017816..124019657-chr12:124117596..124119161,2	MCF-7	breast:
10	chr12:124067553..124070106-chr12:124116767..124119854,4	MCF-7	breast:
11	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
12	chr12:123875063..123876805-chr12:124118427..124120711,2	K562	blood:
13	chr12:124118119..124120182-chr12:124196891..124198426,2	K562	blood:
14	chr12:123866683..123868660-chr12:124118535..124120956,2	K562	blood:
15	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
16	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:
17	chr12:124085496..124088026-chr12:124116630..124119648,4	MCF-7	breast:
18	chr12:124117107..124120837-chr12:124123304..124127842,5	MCF-7	breast:
19	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:
20	chr12:124086664..124088557-chr12:124117448..124120033,4	K562	blood:
21	chr12:123847883..123849879-chr12:124118467..124120545,3	K562	blood:

No data

Variant related genes	Relation type
GTF2H3	TF binding region
EIF2B1	TF binding region
ENSG00000130921	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000168778	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000119242	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1060638	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572916	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572921	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572928	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572929	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572931	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572961	1.00[ASN][1000 genomes]
rs11572965	1.00[ASN][1000 genomes]
rs11572970	1.00[ASN][1000 genomes]
rs11572992	1.00[ASN][1000 genomes]
rs11573002	1.00[ASN][1000 genomes]
rs11573003	1.00[ASN][1000 genomes]
rs11573005	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11831129	1.00[ASN][1000 genomes]
rs1568031	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1913847	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28627432	1.00[ASN][1000 genomes]
rs28668364	1.00[ASN][1000 genomes]
rs28743126	1.00[ASN][1000 genomes]
rs35917561	1.00[ASN][1000 genomes]
rs4930715	1.00[ASN][1000 genomes]
rs56816130	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57071951	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58028686	1.00[ASN][1000 genomes]
rs58507743	1.00[ASN][1000 genomes]
rs58680194	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58831452	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58904890	1.00[ASN][1000 genomes]
rs59279556	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59827616	1.00[ASN][1000 genomes]
rs60422010	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60577371	1.00[ASN][1000 genomes]
rs61082817	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6488885	1.00[ASN][1000 genomes]
rs6488889	1.00[ASN][1000 genomes]
rs7134190	1.00[ASN][1000 genomes]
rs7316613	1.00[ASN][1000 genomes]
rs73414295	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416204	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416211	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416216	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416277	1.00[ASN][1000 genomes]
rs73416283	1.00[ASN][1000 genomes]
rs73416288	1.00[ASN][1000 genomes]
rs73416298	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416299	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416301	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418103	1.00[ASN][1000 genomes]
rs73418104	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418114	1.00[ASN][1000 genomes]
rs73418125	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418139	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418148	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418153	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418159	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418167	1.00[ASN][1000 genomes]
rs73418174	1.00[ASN][1000 genomes]
rs73418179	1.00[ASN][1000 genomes]
rs73418191	1.00[ASN][1000 genomes]
rs73420303	1.00[ASN][1000 genomes]
rs73420351	1.00[ASN][1000 genomes]
rs73420355	1.00[ASN][1000 genomes]
rs73420358	1.00[ASN][1000 genomes]
rs73420368	1.00[ASN][1000 genomes]
rs7965466	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr12:124116800-124119200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124116800-124119200	Active TSS	K562	blood
3	chr12:124117000-124119000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:124117000-124119000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:124117200-124119000	Active TSS	Hela-S3	cervix
6	chr12:124117200-124119000	Active TSS	HMEC	breast
7	chr12:124117200-124119200	Active TSS	A549	lung
8	chr12:124117200-124119200	Active TSS	GM12878-XiMat	blood
9	chr12:124117400-124119000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:124117400-124119000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:124117400-124119000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr12:124117400-124119000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:124117400-124119000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:124117400-124119000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:124117400-124119000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr12:124117400-124119000	Active TSS	Fetal Intestine Large	intestine
17	chr12:124117400-124119000	Active TSS	Fetal Intestine Small	intestine
18	chr12:124117400-124119000	Active TSS	Fetal Kidney	kidney
19	chr12:124117400-124119000	Active TSS	HSMM	muscle
20	chr12:124117400-124119000	Active TSS	NH-A	brain
21	chr12:124117400-124119200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr12:124117400-124119200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr12:124117400-124119200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:124117400-124119200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:124117400-124119200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:124117400-124119200	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr12:124117400-124119200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:124117400-124119400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:124117400-124119600	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:124117400-124119800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:124117600-124119000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:124117600-124119000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:124117600-124119000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr12:124117600-124119000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:124117600-124119000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:124117600-124119000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:124117600-124119000	Active TSS	Colonic Mucosa	Colon
38	chr12:124117600-124119000	Active TSS	Esophagus	oesophagus
39	chr12:124117600-124119000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr12:124117600-124119000	Active TSS	Left Ventricle	heart
41	chr12:124117600-124119000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr12:124117600-124119000	Active TSS	Right Atrium	heart
43	chr12:124117600-124119000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr12:124117600-124119000	Active TSS	Stomach Mucosa	stomach
45	chr12:124117600-124119200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr12:124117600-124119200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr12:124117600-124119200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:124117600-124119200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:124117600-124119200	Active TSS	Ovary	ovary
50	chr12:124117600-124119200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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