Variant report

Variant	rs12111285
Chromosome Location	chr6:33418680-33418681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33418292-33418913	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr6:33417598-33418944	K562	blood:	n/a	n/a
3	POLR2A	chr6:33418228-33418902	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33418656-33418706	PANC-1	pancreas:	n/a
2	chr6:33418656-33418706	SK-N-SH	brain:	n/a
3	chr6:33418656-33418706	AoSMC	blood vessel:	n/a
4	chr6:33418656-33418706	HCPEpiC	choroid plexus:	n/a
5	chr6:33418656-33418706	SAEC	small airway:	n/a
6	chr6:33418656-33418706	HepG2	liver:	n/a
7	chr6:33418656-33418706	NB4	blood:	n/a
8	chr6:33418656-33418706	BJ	skin:	n/a
9	chr6:33418656-33418706	ovcar-3	ovarian:	n/a
10	chr6:33418656-33418706	MCF-7	breast:	n/a
11	chr6:33418656-33418706	ECC-1	luminal epithelium:	n/a
12	chr6:33418656-33418706	HCF	heart:	n/a
13	chr6:33418656-33418706	PrEC	prostate:	n/a
14	chr6:33418656-33418706	NHBE	bronchial:	n/a
15	chr6:33418656-33418706	NH-A	brain:	n/a
16	chr6:33418656-33418706	Caco-2	colon:	n/a
17	chr6:33418656-33418706	CMK	blood:	n/a
18	chr6:33418656-33418706	HIPEpiC	eye:	n/a
19	chr6:33418656-33418706	HUVEC	blood vessel:	n/a
20	chr6:33418656-33418706	U87	brain:	n/a
21	chr6:33418656-33418706	HMEC	breast:	n/a
22	chr6:33418656-33418706	HRPEpiC	eye:	n/a
23	chr6:33418656-33418706	HEEpiC	esophagus:	n/a
24	chr6:33418656-33418706	IMR90	lung:	fetal
25	chr6:33418656-33418706	AG09319	gingival:	n/a
26	chr6:33418656-33418706	GM06990	blood:	n/a
27	chr6:33418656-33418706	AG10803	skin:	n/a
28	chr6:33418656-33418706	AG04450	lung:	fetal
29	chr6:33418656-33418706	NHDF-neo	bronchial:	n/a
30	chr6:33418656-33418706	Hepatocyte	liver:	n/a
31	chr6:33418656-33418706	Jurkat	blood:	n/a
32	chr6:33418656-33418706	SK-N-MC	brain:	n/a
33	chr6:33418656-33418706	ProgFib	skin:	n/a
34	chr6:33418656-33418706	HCM	heart:	n/a
35	chr6:33418656-33418706	HCT-116	colon:	n/a
36	chr6:33418656-33418706	HRE	kidney:	n/a
37	chr6:33418656-33418706	Hela-S3	cervix:	n/a
38	chr6:33418656-33418706	GM19239	blood:	n/a
39	chr6:33418656-33418706	HEK293	kidney:	embryo
40	chr6:33418656-33418706	NT2-D1	testis:	n/a
41	chr6:33418656-33418706	AG04449	skin:	fetal
42	chr6:33418656-33418706	HNPCEpiC	eye:	n/a
43	chr6:33418656-33418706	GM12892	blood:	n/a
44	chr6:33418656-33418706	HL-60	blood:	n/a
45	chr6:33418656-33418706	H1-hESC	embryonic stem cell:	embryo
46	chr6:33418656-33418706	SK-N-SH_RA	brain:	n/a
47	chr6:33418656-33418706	GM12891	blood:	n/a
48	chr6:33418656-33418706	T-47D	breast:	n/a
49	chr6:33418656-33418706	SKMC	muscle:	n/a
50	chr6:33418656-33418706	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33402335..33405767-chr6:33416394..33418965,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZBTB9	TF binding region
ZBTB9	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11961893	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11964724	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55897728	1.00[AMR][1000 genomes]
rs56085633	1.00[AMR][1000 genomes]
rs56122765	1.00[AMR][1000 genomes]
rs56148814	1.00[AMR][1000 genomes]
rs56226140	1.00[AMR][1000 genomes]
rs56875788	1.00[AMR][1000 genomes]
rs57104544	1.00[AMR][1000 genomes]
rs57290518	1.00[AMR][1000 genomes]
rs58043092	1.00[AMR][1000 genomes]
rs58058146	1.00[AMR][1000 genomes]
rs58312523	1.00[AMR][1000 genomes]
rs58566767	1.00[AMR][1000 genomes]
rs61138871	1.00[AMR][1000 genomes]
rs61589902	1.00[AMR][1000 genomes]
rs61733862	1.00[AMR][1000 genomes]
rs61734735	1.00[AMR][1000 genomes]
rs9469473	1.00[AMR][1000 genomes]
rs9469476	1.00[AMR][1000 genomes]
rs9469478	1.00[AMR][1000 genomes]
rs9469479	1.00[AMR][1000 genomes]
rs9969005	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv437503	chr6:33408542-33421577	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv3341480	chr6:33418074-33422572	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3507170	chr6:33418124-33423322	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3507171	chr6:33418124-33423322	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33399400-33421200	Weak transcription	HMEC	breast
2	chr6:33399400-33421600	Weak transcription	Stomach Mucosa	stomach
3	chr6:33399600-33421400	Weak transcription	HUVEC	blood vessel
4	chr6:33399800-33421400	Weak transcription	A549	lung
5	chr6:33400000-33420600	Strong transcription	Brain Germinal Matrix	brain
6	chr6:33401200-33420800	Strong transcription	Fetal Brain Female	brain
7	chr6:33401400-33418800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:33401400-33421400	Weak transcription	Right Atrium	heart
9	chr6:33402000-33420600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:33402200-33420000	Strong transcription	Fetal Thymus	thymus
11	chr6:33402200-33420800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:33402400-33420800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:33402600-33420000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:33402600-33420400	Strong transcription	Fetal Stomach	stomach
15	chr6:33402600-33421400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:33402800-33419000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:33402800-33420000	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr6:33402800-33420000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:33402800-33420000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:33402800-33420200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr6:33402800-33420200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr6:33403000-33420600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:33403200-33420200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:33403600-33420400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:33404000-33421200	Weak transcription	HSMM	muscle
26	chr6:33405400-33420400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:33406200-33421200	Weak transcription	Liver	Liver
28	chr6:33406400-33420800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:33406400-33421200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:33406400-33421400	Weak transcription	Colonic Mucosa	Colon
31	chr6:33406600-33421400	Weak transcription	HSMMtube	muscle
32	chr6:33406800-33421000	Weak transcription	NH-A	brain
33	chr6:33407200-33420400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr6:33408400-33421400	Weak transcription	Fetal Kidney	kidney
35	chr6:33408600-33418800	Strong transcription	Brain Anterior Caudate	brain
36	chr6:33408800-33419200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:33409400-33419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:33410000-33420400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr6:33411200-33421400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:33411200-33421400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:33412400-33420800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:33413000-33419800	Weak transcription	Fetal Heart	heart
43	chr6:33413000-33421400	Weak transcription	Left Ventricle	heart
44	chr6:33413200-33420400	Weak transcription	Fetal Brain Male	brain
45	chr6:33414200-33421200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:33414200-33421200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:33414600-33421200	Weak transcription	Right Ventricle	heart
48	chr6:33415000-33421400	Weak transcription	GM12878-XiMat	blood
49	chr6:33415000-33421600	Weak transcription	Aorta	Aorta
50	chr6:33415400-33421400	Weak transcription	Gastric	stomach

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