Variant report

Variant	rs11832734
Chromosome Location	chr12:117175856-117175857
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	ATF3	chr12:117175774-117176251	A549	lung:	n/a	chr12:117175986-117176006
2	POLR2A	chr12:117175494-117176082	GM12891	blood:	n/a	n/a
3	YY1	chr12:117175521-117176181	GM12891	blood:	n/a	chr12:117175785-117175796
4	CTCF	chr12:117175820-117175970	Caco-2	colon:	n/a	n/a
5	CREB1	chr12:117175684-117176491	H1-hESC	embryonic stem cell:	n/a	n/a
6	RELA	chr12:117175435-117176458	GM18951	blood:	n/a	n/a
7	TAF1	chr12:117175726-117175999	K562	blood:	n/a	n/a
8	SP1	chr12:117175367-117176612	HCT-116	colon:	n/a	chr12:117175884-117175896 chr12:117176063-117176084 chr12:117175953-117175974 chr12:117175886-117175895 chr12:117175873-117175882 chr12:117175985-117175996 chr12:117175885-117175894 chr12:117175884-117175896
9	TBP	chr12:117175571-117176138	K562	blood:	n/a	n/a
10	FOXP2	chr12:117175795-117176062	SK-N-MC	brain:	n/a	n/a
11	MAX	chr12:117175724-117176169	K562	blood:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
12	POLR2A	chr12:117175415-117176619	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr12:117175428-117176272	K562	blood:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
14	TAF1	chr12:117175573-117176045	GM12878	blood:	n/a	n/a
15	MAX	chr12:117175593-117176605	SK-N-SH	brain:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
16	RELA	chr12:117175636-117176599	GM10847	blood:	n/a	n/a
17	FOXM1	chr12:117175737-117176584	GM12878	blood:	n/a	n/a
18	ELF1	chr12:117175681-117176442	MCF-7	breast:	n/a	chr12:117175885-117175897
19	MAX	chr12:117175592-117176543	ECC-1	luminal epithelium:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
20	TAF1	chr12:117175586-117176401	ECC-1	luminal epithelium:	n/a	n/a
21	SMC3	chr12:117175538-117176605	Hela-S3	cervix:	n/a	n/a
22	MAX	chr12:117175693-117176271	K562	blood:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
23	UBTF	chr12:117175586-117176245	K562	blood:	n/a	n/a
24	POLR2A	chr12:117175481-117176231	Hela-S3	cervix:	n/a	n/a
25	E2F6	chr12:117175492-117176463	K562	blood:	n/a	chr12:117175886-117175895
26	SIX5	chr12:117175850-117176401	A549	lung:	n/a	n/a
27	GABPA	chr12:117175758-117176355	A549	lung:	n/a	n/a
28	NFE2	chr12:117175755-117176276	GM12878	blood:	n/a	chr12:117175867-117175876
29	POLR2A	chr12:117175564-117176175	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:117175609-117176324	HCT-116	colon:	n/a	n/a
31	ELF1	chr12:117175352-117176384	MCF-7	breast:	n/a	chr12:117175885-117175897
32	MYC	chr12:117175724-117176164	MCF-7	breast:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
33	TAF1	chr12:117175734-117176107	SK-N-SH	brain:	n/a	n/a
34	MAX	chr12:117175468-117176638	MCF-7	breast:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
35	RCOR1	chr12:117175757-117176573	Hela-S3	cervix:	n/a	n/a
36	MAX	chr12:117175670-117176484	MCF-7	breast:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
37	POLR2A	chr12:117175589-117176243	GM10847	blood:	n/a	n/a
38	NFIC	chr12:117175785-117176266	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr12:117175463-117176533	SK-N-SH	brain:	n/a	n/a
40	BHLHE40	chr12:117175648-117176366	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:117175467-117176334	MCF-7	breast:	n/a	n/a
42	MAZ	chr12:117175511-117176296	GM12878	blood:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
43	SP4	chr12:117175726-117176227	H1-hESC	embryonic stem cell:	n/a	chr12:117175981-117175997 chr12:117175985-117175996
44	TBL1XR1	chr12:117175736-117176239	K562	blood:	n/a	n/a
45	GABPA	chr12:117175544-117176638	MCF-7	breast:	n/a	n/a
46	STAT1	chr12:117175837-117176329	GM12878	blood:	n/a	chr12:117175980-117175992
47	MYC	chr12:117175747-117176208	MCF10A-Er-Src	breast:	n/a	chr12:117175865-117175874 chr12:117175863-117175872 chr12:117175864-117175875
48	EP300	chr12:117175809-117176329	K562	blood:	n/a	chr12:117176194-117176208
49	GABPA	chr12:117175670-117176193	K562	blood:	n/a	n/a
50	ZNF143	chr12:117175519-117176268	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117175828-117175878	PANC-1	pancreas:	n/a
2	chr12:117175828-117175878	HL-60	blood:	n/a
3	chr12:117175828-117175878	HCF	heart:	n/a
4	chr12:117175828-117175878	ECC-1	luminal epithelium:	n/a
5	chr12:117175828-117175878	GM12892	blood:	n/a
6	chr12:117175828-117175878	NH-A	brain:	n/a
7	chr12:117175828-117175878	ProgFib	skin:	n/a
8	chr12:117175828-117175878	HEK293	kidney:	embryo
9	chr12:117175828-117175878	BE2_C	brain:	n/a
10	chr12:117175828-117175878	ovcar-3	ovarian:	n/a
11	chr12:117175828-117175878	IMR90	lung:	fetal
12	chr12:117175828-117175878	HCPEpiC	choroid plexus:	n/a
13	chr12:117175828-117175878	PrEC	prostate:	n/a
14	chr12:117175828-117175878	HEEpiC	esophagus:	n/a
15	chr12:117175828-117175878	SKMC	muscle:	n/a
16	chr12:117175828-117175878	AG10803	skin:	n/a
17	chr12:117175828-117175878	H1-hESC	embryonic stem cell:	embryo
18	chr12:117175828-117175878	NT2-D1	testis:	n/a
19	chr12:117175828-117175878	A549	lung:	n/a
20	chr12:117175828-117175878	NB4	blood:	n/a
21	chr12:117175828-117175878	HepG2	liver:	n/a
22	chr12:117175828-117175878	HRPEpiC	eye:	n/a
23	chr12:117175828-117175878	HNPCEpiC	eye:	n/a
24	chr12:117175828-117175878	Hepatocyte	liver:	n/a
25	chr12:117175828-117175878	HRE	kidney:	n/a
26	chr12:117175828-117175878	BJ	skin:	n/a
27	chr12:117175828-117175878	HUVEC	blood vessel:	n/a
28	chr12:117175828-117175878	MCF-7	breast:	n/a
29	chr12:117175828-117175878	AG09309	skin:	n/a
30	chr12:117175828-117175878	HAEpiC	amniotic membrane:	n/a
31	chr12:117175828-117175878	Jurkat	blood:	n/a
32	chr12:117175828-117175878	AoSMC	blood vessel:	n/a
33	chr12:117175828-117175878	RPTEC	kidney:	n/a
34	chr12:117175828-117175878	CMK	blood:	n/a
35	chr12:117175828-117175878	LNCaP	prostate:	n/a
36	chr12:117175828-117175878	SAEC	small airway:	n/a
37	chr12:117175828-117175878	AG04450	lung:	fetal
38	chr12:117175828-117175878	AG04449	skin:	fetal
39	chr12:117175828-117175878	HIPEpiC	eye:	n/a
40	chr12:117175828-117175878	GM12891	blood:	n/a
41	chr12:117175828-117175878	MCF10A-Er-Src	breast:	n/a
42	chr12:117175828-117175878	SK-N-MC	brain:	n/a
43	chr12:117175828-117175878	GM19239	blood:	n/a
44	chr12:117175828-117175878	GM12878	blood:	n/a
45	chr12:117175828-117175878	U87	brain:	n/a
46	chr12:117175828-117175878	NHDF-neo	bronchial:	n/a
47	chr12:117175828-117175878	Hela-S3	cervix:	n/a
48	chr12:117175828-117175878	K562	blood:	n/a
49	chr12:117175828-117175878	GM06990	blood:	n/a
50	chr12:117175828-117175878	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:117174912..117176575-chr12:117346883..117348986,2	MCF-7	breast:
2	chr12:117174783..117176988-chr12:117316113..117318785,2	MCF-7	breast:
3	chr12:117175239..117175990-chr9:34329401..34330121,2	NB4	blood:
4	chr12:117155749..117159803-chr12:117174359..117177084,5	MCF-7	breast:
5	chr12:31478801..31479401-chr12:117175467..117175974,2	NB4	blood:
6	chr12:117155609..117158442-chr12:117174031..117175991,2	MCF-7	breast:

Variant related genes	Relation type
C12orf49	TF binding region
RNFT2	TF binding region
RNFT2	CpG island
C12orf49	CpG island
ENSG00000111412	Chromatin interaction
ENSG00000135116	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000164978	Chromatin interaction
ENSG00000174989	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3809192	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1048004	chr12:117170738-117219076	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv1039046	chr12:117170989-117225635	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 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	chr12:117174000-117176600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:117174000-117176600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:117174000-117176600	Active TSS	Lung	lung
4	chr12:117174000-117177000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:117174000-117177200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:117174200-117176200	Active TSS	Fetal Intestine Small	intestine
7	chr12:117174200-117176400	Active TSS	HSMM	muscle
8	chr12:117174200-117176800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr12:117174200-117176800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:117174200-117177200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr12:117174400-117176200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:117174400-117176200	Active TSS	HSMMtube	muscle
13	chr12:117174400-117176400	Active TSS	NHDF-Ad	bronchial
14	chr12:117174400-117176600	Active TSS	Aorta	Aorta
15	chr12:117174400-117176600	Active TSS	Gastric	stomach
16	chr12:117174400-117176600	Active TSS	Right Atrium	heart
17	chr12:117174400-117177000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:117174400-117177000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:117174600-117176400	Active TSS	Fetal Lung	lung
20	chr12:117174600-117176400	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr12:117174600-117176600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr12:117174600-117176600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:117174600-117176600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:117174600-117176800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:117174600-117176800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:117174600-117176800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:117174600-117176800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:117174600-117176800	Active TSS	Fetal Kidney	kidney
29	chr12:117174800-117176200	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr12:117174800-117176200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr12:117174800-117176200	Active TSS	Colon Smooth Muscle	Colon
32	chr12:117174800-117176200	Active TSS	Placenta Amnion	Placenta Amnion
33	chr12:117174800-117176200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr12:117174800-117176400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:117174800-117176400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr12:117174800-117176400	Active TSS	Small Intestine	intestine
37	chr12:117174800-117176400	Active TSS	GM12878-XiMat	blood
38	chr12:117174800-117176400	Active TSS	Hela-S3	cervix
39	chr12:117174800-117176400	Active TSS	NHEK	skin
40	chr12:117174800-117176600	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr12:117174800-117176600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:117174800-117176600	Active TSS	A549	lung
43	chr12:117174800-117176800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:117174800-117176800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:117174800-117177000	Active TSS	Brain Angular Gyrus	brain
46	chr12:117174800-117177200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:117175000-117176200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:117175000-117176200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:117175000-117176200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:117175000-117176200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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