Variant report

Variant	rs11833782
Chromosome Location	chr12:30848960-30848961
allele	C/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	MYC	chr12:30848682-30848964	MCF-7	breast:	n/a	chr12:30848696-30848706
2	MAX	chr12:30847888-30849229	K562	blood:	n/a	chr12:30849010-30849020 chr12:30848696-30848706
3	UBTF	chr12:30848202-30849135	K562	blood:	n/a	n/a
4	ELK1	chr12:30848686-30849048	Hela-S3	cervix:	n/a	n/a
5	ZBTB7A	chr12:30847745-30849139	ECC-1	luminal epithelium:	n/a	chr12:30848668-30848677 chr12:30848746-30848755 chr12:30848455-30848462
6	CTCF	chr12:30848723-30848979	Spleen_OC	spleen:	n/a	n/a
7	MAX	chr12:30848598-30849207	SK-N-SH	brain:	n/a	chr12:30849010-30849020 chr12:30848696-30848706
8	REST	chr12:30848568-30849292	A549	lung:	n/a	n/a
9	ZBTB7A	chr12:30847902-30849038	ECC-1	luminal epithelium:	n/a	chr12:30848668-30848677 chr12:30848746-30848755 chr12:30848455-30848462
10	GABPA	chr12:30848688-30849029	GM12878	blood:	n/a	chr12:30848745-30848754
11	EP300	chr12:30848609-30849007	H1-hESC	embryonic stem cell:	n/a	chr12:30848900-30848909 chr12:30848826-30848840
12	TCF12	chr12:30848536-30849015	GM12878	blood:	n/a	n/a
13	CTCF	chr12:30847780-30849063	K562	blood:	n/a	chr12:30848584-30848593 chr12:30848712-30848725 chr12:30848442-30848455
14	TBL1XR1	chr12:30848093-30849200	K562	blood:	n/a	n/a
15	ZNF143	chr12:30848428-30849197	GM12878	blood:	n/a	chr12:30848693-30848703
16	POLR2A	chr12:30848511-30849252	GM12892	blood:	n/a	n/a
17	ELF1	chr12:30848141-30849169	GM12878	blood:	n/a	chr12:30848599-30848611 chr12:30848831-30848842
18	ETS1	chr12:30848621-30849166	K562	blood:	n/a	n/a
19	FOXM1	chr12:30848620-30849075	GM12878	blood:	n/a	n/a
20	RCOR1	chr12:30847290-30849259	K562	blood:	n/a	n/a
21	HEY1	chr12:30848382-30849226	HepG2	liver:	n/a	chr12:30848596-30848611
22	POLR2A	chr12:30848507-30849247	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr12:30848579-30849090	HUVEC	blood vessel:	n/a	n/a
24	SIX5	chr12:30848694-30849045	K562	blood:	n/a	n/a
25	ZNF143	chr12:30848399-30849262	Hela-S3	cervix:	n/a	chr12:30848693-30848703 chr12:30848418-30848436
26	POLR2A	chr12:30848301-30849145	ECC-1	luminal epithelium:	n/a	n/a
27	ZMIZ1	chr12:30848239-30849190	K562	blood:	n/a	n/a
28	MYC	chr12:30848720-30849104	MCF10A-Er-Src	breast:	n/a	chr12:30849010-30849020
29	STAT3	chr12:30848797-30849200	MCF10A-Er-Src	breast:	n/a	chr12:30848937-30848957 chr12:30848943-30848951 chr12:30848943-30848952 chr12:30848937-30848957 chr12:30848942-30848951 chr12:30848941-30848952
30	RUNX3	chr12:30848513-30849082	GM12878	blood:	n/a	n/a
31	ATF3	chr12:30848656-30848999	HepG2	liver:	n/a	n/a
32	JUND	chr12:30848016-30849098	H1-hESC	embryonic stem cell:	n/a	chr12:30848814-30848823
33	ZNF263	chr12:30847581-30849241	HEK293-T-REx	kidney:	n/a	chr12:30848821-30848842
34	CHD2	chr12:30848522-30849185	K562	blood:	n/a	chr12:30848743-30848753
35	SPI1	chr12:30848702-30849022	GM12878	blood:	n/a	chr12:30848830-30848843 chr12:30848834-30848841 chr12:30848833-30848842
36	POLR2A	chr12:30848617-30849073	A549	lung:	n/a	n/a
37	POLR2A	chr12:30848609-30849484	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr12:30847870-30849248	ECC-1	luminal epithelium:	n/a	n/a
39	TAF1	chr12:30848619-30849071	SK-N-SH	brain:	n/a	n/a
40	EGR1	chr12:30848425-30849172	HCT-116	colon:	n/a	chr12:30848599-30848609 chr12:30848697-30848707 chr12:30848767-30848777
41	CHD2	chr12:30847925-30849170	Hela-S3	cervix:	n/a	chr12:30848743-30848753
42	POLR2A	chr12:30848551-30849126	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr12:30848525-30849229	GM12892	blood:	n/a	n/a
44	YY1	chr12:30848261-30849243	NT2-D1	testis:	n/a	chr12:30848444-30848458 chr12:30848347-30848358 chr12:30848597-30848608 chr12:30848905-30848927
45	YY1	chr12:30848171-30849233	HepG2	liver:	n/a	chr12:30848444-30848458 chr12:30848347-30848358 chr12:30848597-30848608 chr12:30848905-30848927
46	JUND	chr12:30847906-30849367	K562	blood:	n/a	chr12:30848814-30848823
47	REST	chr12:30847845-30849472	H1-neurons	neurons:	n/a	chr12:30848432-30848445 chr12:30848419-30848432
48	POLR2A	chr12:30848396-30849304	GM12892	blood:	n/a	n/a
49	POLR2A	chr12:30848582-30849557	K562	blood:	n/a	n/a
50	MXI1	chr12:30848551-30849362	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:30848959-30849009	ovcar-3	ovarian:	n/a
2	chr12:30848959-30849009	NT2-D1	testis:	n/a
3	chr12:30848959-30849009	Jurkat	blood:	n/a
4	chr12:30848959-30849009	SAEC	small airway:	n/a
5	chr12:30848959-30849009	HL-60	blood:	n/a
6	chr12:30848959-30849009	HUVEC	blood vessel:	n/a
7	chr12:30848959-30849009	A549	lung:	n/a
8	chr12:30848959-30849009	PANC-1	pancreas:	n/a
9	chr12:30848959-30849009	HCF	heart:	n/a
10	chr12:30848959-30849009	GM12878	blood:	n/a
11	chr12:30848959-30849009	NHBE	bronchial:	n/a
12	chr12:30848959-30849009	GM19239	blood:	n/a
13	chr12:30848959-30849009	H1-hESC	embryonic stem cell:	embryo
14	chr12:30848959-30849009	Hepatocyte	liver:	n/a
15	chr12:30848959-30849009	PrEC	prostate:	n/a
16	chr12:30848959-30849009	AG09319	gingival:	n/a
17	chr12:30848959-30849009	HIPEpiC	eye:	n/a
18	chr12:30848959-30849009	HCPEpiC	choroid plexus:	n/a
19	chr12:30848959-30849009	GM12891	blood:	n/a
20	chr12:30848959-30849009	Hela-S3	cervix:	n/a
21	chr12:30848959-30849009	HPAEpiC	pulmonary alveolar:	n/a
22	chr12:30848959-30849009	SK-N-SH	brain:	n/a
23	chr12:30848959-30849009	HRPEpiC	eye:	n/a
24	chr12:30848959-30849009	NHDF-neo	bronchial:	n/a
25	chr12:30848959-30849009	BJ	skin:	n/a
26	chr12:30848959-30849009	IMR90	lung:	fetal
27	chr12:30848959-30849009	SKMC	muscle:	n/a
28	chr12:30848959-30849009	MCF10A-Er-Src	breast:	n/a
29	chr12:30848959-30849009	HRCEpiC	kidney:	n/a
30	chr12:30848959-30849009	HEK293	kidney:	embryo
31	chr12:30848959-30849009	AG09309	skin:	n/a
32	chr12:30848959-30849009	HCT-116	colon:	n/a
33	chr12:30848959-30849009	AoSMC	blood vessel:	n/a
34	chr12:30848959-30849009	HEEpiC	esophagus:	n/a
35	chr12:30848959-30849009	ECC-1	luminal epithelium:	n/a
36	chr12:30848959-30849009	U87	brain:	n/a
37	chr12:30848959-30849009	SK-N-SH_RA	brain:	n/a
38	chr12:30848959-30849009	HMEC	breast:	n/a
39	chr12:30848959-30849009	HepG2	liver:	n/a
40	chr12:30848959-30849009	T-47D	breast:	n/a
41	chr12:30848959-30849009	GM06990	blood:	n/a
42	chr12:30848959-30849009	SK-N-MC	brain:	n/a
43	chr12:30848959-30849009	NB4	blood:	n/a
44	chr12:30848959-30849009	CMK	blood:	n/a
45	chr12:30848959-30849009	MCF-7	breast:	n/a
46	chr12:30848959-30849009	GM12892	blood:	n/a
47	chr12:30848959-30849009	NH-A	brain:	n/a
48	chr12:30848959-30849009	PFSK-1	brain:	n/a
49	chr12:30848959-30849009	AG10803	skin:	n/a
50	chr12:30848959-30849009	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30840558..30845484-chr12:30846630..30850252,8	K562	blood:
2	chr12:30848203..30850367-chr12:31477649..31479869,2	K562	blood:

Variant related genes	Relation type
IPO8	TF binding region
IPO8	CpG island
ENSG00000139146	Chromatin interaction
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11830625	1.00[AMR][1000 genomes]
rs11832446	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836910	1.00[AMR][1000 genomes]
rs7303723	1.00[AMR][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 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	chr12:30846400-30849400	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:30846800-30849400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:30847000-30849000	Active TSS	Muscle Satellite Cultured Cells	--
4	chr12:30847200-30849000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr12:30847400-30849000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr12:30847400-30849200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:30847400-30849200	Active TSS	Fetal Intestine Small	intestine
8	chr12:30847400-30849200	Active TSS	Lung	lung
9	chr12:30847400-30849200	Active TSS	Pancreas	Pancrea
10	chr12:30847400-30849400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:30847400-30849400	Active TSS	Aorta	Aorta
12	chr12:30847400-30849400	Active TSS	Fetal Muscle Trunk	muscle
13	chr12:30847400-30849400	Active TSS	Right Atrium	heart
14	chr12:30847400-30849400	Active TSS	GM12878-XiMat	blood
15	chr12:30847400-30849800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr12:30847400-30849800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:30847400-30850400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:30847600-30849000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:30847600-30849000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:30847600-30849200	Active TSS	Left Ventricle	heart
21	chr12:30847600-30849200	Active TSS	Right Ventricle	heart
22	chr12:30847600-30849200	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr12:30847600-30849400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:30847600-30849400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:30847600-30849400	Active TSS	Brain Anterior Caudate	brain
26	chr12:30847600-30849400	Active TSS	Fetal Intestine Large	intestine
27	chr12:30847600-30849400	Active TSS	Ovary	ovary
28	chr12:30847600-30849400	Active TSS	NHDF-Ad	bronchial
29	chr12:30847600-30849600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:30847600-30849600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:30847600-30849600	Active TSS	Colonic Mucosa	Colon
32	chr12:30847600-30849600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr12:30847600-30849600	Active TSS	NHLF	lung
34	chr12:30847600-30849800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr12:30847600-30849800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr12:30847600-30849800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:30847600-30849800	Active TSS	Duodenum Mucosa	Duodenum
38	chr12:30847800-30849000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr12:30847800-30849000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:30847800-30849000	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr12:30847800-30849000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr12:30847800-30849000	Active TSS	Fetal Kidney	kidney
43	chr12:30847800-30849000	Active TSS	Fetal Muscle Leg	muscle
44	chr12:30847800-30849000	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr12:30847800-30849000	Active TSS	Hela-S3	cervix
46	chr12:30847800-30849000	Active TSS	HMEC	breast
47	chr12:30847800-30849000	Active TSS	Osteobl	bone
48	chr12:30847800-30849200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:30847800-30849200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:30847800-30849200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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