Variant report

Variant	rs11572911
Chromosome Location	chr12:124118238-124118239
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:596)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr12:124117909-124118629	K562	blood:	n/a	n/a
2	YY1	chr12:124118071-124118638	HepG2	liver:	n/a	chr12:124118324-124118333 chr12:124118167-124118181 chr12:124118172-124118181 chr12:124118170-124118184
3	MYC	chr12:124118062-124118963	H1-hESC	embryonic stem cell:	n/a	n/a
4	GTF2B	chr12:124118123-124118572	K562	blood:	n/a	n/a
5	MAX	chr12:124117767-124118727	MCF-7	breast:	n/a	n/a
6	POLR2A	chr12:124117928-124118762	GM12878	blood:	n/a	n/a
7	JUND	chr12:124118072-124118494	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:124117841-124118818	Hela-S3	cervix:	n/a	n/a
9	NANOG	chr12:124118046-124118545	H1-hESC	embryonic stem cell:	n/a	chr12:124118428-124118437
10	POLR2A	chr12:124118035-124118537	A549	lung:	n/a	n/a
11	USF1	chr12:124118146-124118510	H1-hESC	embryonic stem cell:	n/a	chr12:124118315-124118326
12	REST	chr12:124118080-124118656	MCF-7	breast:	n/a	chr12:124118392-124118405
13	GABPA	chr12:124117637-124118716	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr12:124117806-124119812	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:124117950-124119141	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr12:124118013-124118520	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:124117815-124118746	GM12891	blood:	n/a	n/a
18	ZNF143	chr12:124118129-124118524	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr12:124117797-124118657	MCF-7	breast:	n/a	n/a
20	TAF1	chr12:124117955-124118611	GM12892	blood:	n/a	n/a
21	GATA3	chr12:124118070-124118501	T-47D	breast:	n/a	n/a
22	MXI1	chr12:124117919-124118639	HepG2	liver:	n/a	n/a
23	REST	chr12:124117636-124118916	H1-neurons	neurons:	n/a	chr12:124118008-124118021 chr12:124118392-124118405
24	POLR2A	chr12:124117955-124118656	K562	blood:	n/a	n/a
25	JUND	chr12:124118041-124118568	H1-hESC	embryonic stem cell:	n/a	n/a
26	TBP	chr12:124118073-124118613	Hela-S3	cervix:	n/a	n/a
27	YY1	chr12:124117834-124119075	GM12878	blood:	n/a	chr12:124118324-124118333 chr12:124118167-124118181 chr12:124118172-124118181 chr12:124118170-124118184
28	USF1	chr12:124118029-124118485	K562	blood:	n/a	chr12:124118315-124118326
29	NFIC	chr12:124118014-124118566	HepG2	liver:	n/a	n/a
30	CREB1	chr12:124117803-124119114	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr12:124117873-124118642	PANC-1	pancreas:	n/a	n/a
32	PAX5	chr12:124118019-124118382	GM12892	blood:	n/a	n/a
33	POLR2A	chr12:124117869-124118722	MCF-7	breast:	n/a	n/a
34	MAFK	chr12:124118069-124118581	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr12:124117960-124118908	K562	blood:	n/a	n/a
36	SIX5	chr12:124117982-124118626	A549	lung:	n/a	n/a
37	POLR2A	chr12:124117748-124119054	HUVEC	blood vessel:	n/a	n/a
38	FOXA2	chr12:124117992-124118629	A549	lung:	n/a	n/a
39	POLR2A	chr12:124117898-124119373	GM12891	blood:	n/a	n/a
40	ATF3	chr12:124118056-124118549	K562	blood:	n/a	chr12:124118170-124118179 chr12:124118312-124118332
41	EGR1	chr12:124118030-124118373	GM12878	blood:	n/a	chr12:124118266-124118280
42	POLR2A	chr12:124117828-124118840	HL-60	blood:	n/a	n/a
43	TAF1	chr12:124118053-124118563	SK-N-SH	brain:	n/a	n/a
44	REST	chr12:124117511-124118864	A549	lung:	n/a	chr12:124118008-124118021 chr12:124118392-124118405
45	MYC	chr12:124117781-124119241	K562	blood:	n/a	n/a
46	NFIC	chr12:124117945-124118603	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr12:124118184-124118249	Fibrobl	skin:	n/a	n/a
48	GTF2F1	chr12:124117993-124118630	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr12:124117741-124118816	PBDE	blood:	n/a	n/a
50	TAF1	chr12:124117897-124118833	H1-hESC	embryonic stem cell:	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	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
8	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
9	chr12:124068831..124072178-chr12:124116882..124120107,5	K562	blood:
10	chr12:124017816..124019657-chr12:124117596..124119161,2	MCF-7	breast:
11	chr12:124067567..124070616-chr12:124116717..124118360,3	K562	blood:
12	chr12:124067553..124070106-chr12:124116767..124119854,4	MCF-7	breast:
13	chr12:124117557..124118523-chr17:78120518..78121066,2	Hela-S3	cervix:
14	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
15	chr12:124118119..124120182-chr12:124196891..124198426,2	K562	blood:
16	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
17	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:
18	chr12:124085496..124088026-chr12:124116630..124119648,4	MCF-7	breast:
19	chr12:124117107..124120837-chr12:124123304..124127842,5	MCF-7	breast:
20	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:
21	chr12:124086664..124088557-chr12:124117448..124120033,4	K562	blood:

No data

Variant related genes	Relation type
EIF2B1	TF binding region
GTF2H3	TF binding region
ENSG00000188026	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000168778	Chromatin interaction
ENSG00000141543	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000178882	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10846533	0.96[AFR][1000 genomes]
rs11057315	0.91[AFR][1000 genomes]
rs11057323	0.89[AFR][1000 genomes]
rs11572928	0.92[EUR][1000 genomes]
rs11572929	0.92[EUR][1000 genomes]
rs11572931	0.92[EUR][1000 genomes]
rs11572938	0.92[EUR][1000 genomes]
rs11572939	0.95[AFR][1000 genomes]
rs11572945	0.96[AFR][1000 genomes]
rs11572946	0.95[AFR][1000 genomes]
rs11572956	0.92[EUR][1000 genomes]
rs11572962	0.92[EUR][1000 genomes]
rs11572992	0.92[EUR][1000 genomes]
rs11573002	0.92[EUR][1000 genomes]
rs11573005	0.92[EUR][1000 genomes]
rs11573006	0.92[EUR][1000 genomes]
rs11831129	1.00[EUR][1000 genomes]
rs12099985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1568031	0.92[EUR][1000 genomes]
rs17881657	0.92[EUR][1000 genomes]
rs1913847	0.92[EUR][1000 genomes]
rs28627432	0.92[EUR][1000 genomes]
rs28743126	0.92[EUR][1000 genomes]
rs35917561	0.92[EUR][1000 genomes]
rs3850953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4534668	0.92[EUR][1000 genomes]
rs56816130	0.92[EUR][1000 genomes]
rs58680194	0.92[EUR][1000 genomes]
rs59279556	0.92[EUR][1000 genomes]
rs60422010	0.92[EUR][1000 genomes]
rs60577371	0.92[EUR][1000 genomes]
rs61082817	0.92[EUR][1000 genomes]
rs6488882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488885	1.00[EUR][1000 genomes]
rs6488886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488889	1.00[EUR][1000 genomes]
rs7134190	1.00[EUR][1000 genomes]
rs7295064	0.91[AFR][1000 genomes]
rs7301031	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7305096	0.95[AFR][1000 genomes]
rs7306906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73416265	0.92[EUR][1000 genomes]
rs73416269	0.92[EUR][1000 genomes]
rs73416277	0.92[EUR][1000 genomes]
rs73416283	1.00[EUR][1000 genomes]
rs73416298	0.92[EUR][1000 genomes]
rs73416299	0.92[EUR][1000 genomes]
rs73416301	0.92[EUR][1000 genomes]
rs73418103	0.92[EUR][1000 genomes]
rs73418104	0.92[EUR][1000 genomes]
rs73418107	0.92[EUR][1000 genomes]
rs73418114	0.92[EUR][1000 genomes]
rs73418125	0.92[EUR][1000 genomes]
rs73418139	0.92[EUR][1000 genomes]
rs73418153	0.92[EUR][1000 genomes]
rs73418167	0.92[EUR][1000 genomes]
rs73418179	0.92[EUR][1000 genomes]
rs7964934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7965292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968699	1.00[EUR][1000 genomes]
rs7973187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974138	0.85[EUR][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	chr12:124117400-124118400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:124117400-124118800	Active TSS	Duodenum Mucosa	Duodenum
11	chr12:124117400-124118800	Active TSS	Fetal Muscle Trunk	muscle
12	chr12:124117400-124118800	Active TSS	Fetal Muscle Leg	muscle
13	chr12:124117400-124118800	Active TSS	Placenta	Placenta
14	chr12:124117400-124118800	Active TSS	Psoas Muscle	Psoas
15	chr12:124117400-124118800	Active TSS	Right Ventricle	heart
16	chr12:124117400-124118800	Active TSS	NHLF	lung
17	chr12:124117400-124119000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:124117400-124119000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:124117400-124119000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr12:124117400-124119000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:124117400-124119000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:124117400-124119000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:124117400-124119000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr12:124117400-124119000	Active TSS	Fetal Intestine Large	intestine
25	chr12:124117400-124119000	Active TSS	Fetal Intestine Small	intestine
26	chr12:124117400-124119000	Active TSS	Fetal Kidney	kidney
27	chr12:124117400-124119000	Active TSS	HSMM	muscle
28	chr12:124117400-124119000	Active TSS	NH-A	brain
29	chr12:124117400-124119200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr12:124117400-124119200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr12:124117400-124119200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:124117400-124119200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:124117400-124119200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:124117400-124119200	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr12:124117400-124119200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:124117400-124119400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:124117400-124119600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:124117400-124119800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:124117600-124118800	Active TSS	Colon Smooth Muscle	Colon
40	chr12:124117600-124118800	Active TSS	Rectal Smooth Muscle	rectum
41	chr12:124117600-124119000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:124117600-124119000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:124117600-124119000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:124117600-124119000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:124117600-124119000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:124117600-124119000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:124117600-124119000	Active TSS	Colonic Mucosa	Colon
48	chr12:124117600-124119000	Active TSS	Esophagus	oesophagus
49	chr12:124117600-124119000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:124117600-124119000	Active TSS	Left Ventricle	heart

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