Variant report

Variant	rs6733481
Chromosome Location	chr2:32390834-32390835
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:599)
CpG islands
(count:61)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:599 , 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	FOS	chr2:32390784-32390961	MCF10A-Er-Src	breast:	n/a	n/a
2	USF1	chr2:32390565-32391069	A549	lung:	n/a	n/a
3	MYC	chr2:32390634-32391055	MCF-7	breast:	n/a	n/a
4	MAZ	chr2:32390528-32391200	GM12878	blood:	n/a	n/a
5	ZBTB33	chr2:32390422-32391118	A549	lung:	n/a	n/a
6	CHD2	chr2:32390238-32391251	HepG2	liver:	n/a	n/a
7	GABPA	chr2:32390654-32391071	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:32390524-32391941	GM12878	blood:	n/a	n/a
9	REST	chr2:32390576-32391169	SK-N-SH	brain:	n/a	chr2:32390958-32390966 chr2:32390945-32390955
10	ZBTB33	chr2:32390478-32391157	A549	lung:	n/a	n/a
11	YY1	chr2:32390501-32391266	K562	blood:	n/a	n/a
12	POLR2A	chr2:32390270-32391813	MCF-7	breast:	n/a	n/a
13	SPI1	chr2:32390684-32391071	GM12891	blood:	n/a	n/a
14	JUND	chr2:32390707-32390937	H1-hESC	embryonic stem cell:	n/a	n/a
15	SP1	chr2:32390527-32391146	GM12878	blood:	n/a	chr2:32390896-32390910 chr2:32390895-32390906 chr2:32390896-32390905 chr2:32390895-32390907 chr2:32390896-32390906
16	ATF1	chr2:32390651-32391070	K562	blood:	n/a	n/a
17	MAX	chr2:32390452-32391108	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYBL2	chr2:32390279-32391538	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:32390279-32391296	GM12892	blood:	n/a	n/a
20	STAT3	chr2:32390524-32391029	GM12878	blood:	n/a	chr2:32390815-32390826 chr2:32390911-32390919
21	CREB1	chr2:32390512-32391228	A549	lung:	n/a	n/a
22	MAX	chr2:32390415-32391152	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZC3H11A	chr2:32390662-32391097	K562	blood:	n/a	n/a
24	POLR2A	chr2:32390189-32391217	GM12891	blood:	n/a	n/a
25	CBX3	chr2:32390170-32391291	K562	blood:	n/a	n/a
26	EGR1	chr2:32390417-32391334	HCT-116	colon:	n/a	chr2:32390858-32390871 chr2:32390859-32390869 chr2:32390855-32390869 chr2:32390895-32390909 chr2:32390857-32390871 chr2:32390854-32390863 chr2:32390859-32390870
27	SIN3AK20	chr2:32390461-32391416	SK-N-SH	brain:	n/a	n/a
28	MAX	chr2:32390481-32391298	SK-N-SH	brain:	n/a	n/a
29	CEBPD	chr2:32390407-32391447	K562	blood:	n/a	n/a
30	POLR2A	chr2:32390242-32391647	PANC-1	pancreas:	n/a	n/a
31	SP1	chr2:32390526-32391127	GM12878	blood:	n/a	chr2:32390896-32390910 chr2:32390895-32390906 chr2:32390896-32390905 chr2:32390895-32390907 chr2:32390896-32390906
32	POLR2A	chr2:32390441-32391205	SK-N-MC	brain:	n/a	n/a
33	TAF1	chr2:32390474-32391319	PFSK-1	brain:	n/a	n/a
34	ZMIZ1	chr2:32390561-32391312	K562	blood:	n/a	n/a
35	BACH1	chr2:32390650-32391341	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr2:32390451-32391390	GM12878	blood:	n/a	n/a
37	SMC3	chr2:32390670-32391087	K562	blood:	n/a	n/a
38	NR2F2	chr2:32390467-32391265	MCF-7	breast:	n/a	n/a
39	TAF1	chr2:32390534-32391223	PFSK-1	brain:	n/a	n/a
40	CEBPB	chr2:32390547-32391081	K562	blood:	n/a	chr2:32390878-32390886
41	NFIC	chr2:32390493-32391275	GM12878	blood:	n/a	n/a
42	YY1	chr2:32390534-32391157	GM12878	blood:	n/a	n/a
43	USF1	chr2:32390495-32391121	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr2:32390390-32391452	HUVEC	blood vessel:	n/a	n/a
45	EP300	chr2:32390608-32391041	SK-N-SH_RA	brain:	n/a	n/a
46	USF2	chr2:32390528-32391274	GM12878	blood:	n/a	n/a
47	JUN	chr2:32390658-32391609	K562	blood:	n/a	n/a
48	PAX5	chr2:32390601-32391250	GM12878	blood:	n/a	chr2:32390854-32390863
49	TBL1XR1	chr2:32390512-32391660	K562	blood:	n/a	n/a
50	USF1	chr2:32390634-32391089	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:32390791-32390841	RPTEC	kidney:	n/a
2	chr2:32390791-32390841	BJ	skin:	n/a
3	chr2:32390791-32390841	A549	lung:	n/a
4	chr2:32390791-32390841	HAEpiC	amniotic membrane:	n/a
5	chr2:32390791-32390841	PrEC	prostate:	n/a
6	chr2:32390791-32390841	HL-60	blood:	n/a
7	chr2:32390791-32390841	AG09309	skin:	n/a
8	chr2:32390791-32390841	GM12891	blood:	n/a
9	chr2:32390791-32390841	HMEC	breast:	n/a
10	chr2:32390791-32390841	HRPEpiC	eye:	n/a
11	chr2:32390791-32390841	MCF10A-Er-Src	breast:	n/a
12	chr2:32390791-32390841	ProgFib	skin:	n/a
13	chr2:32390791-32390841	AG04450	lung:	fetal
14	chr2:32390791-32390841	HRE	kidney:	n/a
15	chr2:32390791-32390841	ovcar-3	ovarian:	n/a
16	chr2:32390791-32390841	AG09319	gingival:	n/a
17	chr2:32390791-32390841	K562	blood:	n/a
18	chr2:32390791-32390841	HNPCEpiC	eye:	n/a
19	chr2:32390791-32390841	BE2_C	brain:	n/a
20	chr2:32390791-32390841	CMK	blood:	n/a
21	chr2:32390791-32390841	SK-N-SH_RA	brain:	n/a
22	chr2:32390791-32390841	GM19239	blood:	n/a
23	chr2:32390791-32390841	ECC-1	luminal epithelium:	n/a
24	chr2:32390791-32390841	NHBE	bronchial:	n/a
25	chr2:32390791-32390841	GM12878	blood:	n/a
26	chr2:32390791-32390841	HRCEpiC	kidney:	n/a
27	chr2:32390791-32390841	AG10803	skin:	n/a
28	chr2:32390791-32390841	Jurkat	blood:	n/a
29	chr2:32390791-32390841	AG04449	skin:	fetal
30	chr2:32390791-32390841	GM12892	blood:	n/a
31	chr2:32390791-32390841	HUVEC	blood vessel:	n/a
32	chr2:32390791-32390841	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:32390791-32390841	NT2-D1	testis:	n/a
34	chr2:32390791-32390841	NH-A	brain:	n/a
35	chr2:32390791-32390841	Hepatocyte	liver:	n/a
36	chr2:32390791-32390841	Hela-S3	cervix:	n/a
37	chr2:32390791-32390841	HCM	heart:	n/a
38	chr2:32390791-32390841	HEK293	kidney:	embryo
39	chr2:32390791-32390841	HCF	heart:	n/a
40	chr2:32390791-32390841	IMR90	lung:	fetal
41	chr2:32390791-32390841	LNCaP	prostate:	n/a
42	chr2:32390791-32390841	NHDF-neo	bronchial:	n/a
43	chr2:32390791-32390841	U87	brain:	n/a
44	chr2:32390791-32390841	SK-N-MC	brain:	n/a
45	chr2:32390791-32390841	H1-hESC	embryonic stem cell:	embryo
46	chr2:32390791-32390841	SAEC	small airway:	n/a
47	chr2:32390791-32390841	GM06990	blood:	n/a
48	chr2:32390791-32390841	AoSMC	blood vessel:	n/a
49	chr2:32390791-32390841	NB4	blood:	n/a
50	chr2:32390791-32390841	HepG2	liver:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32264450..32265171-chr2:32390311..32391216,2	MCF-7	breast:
2	chr2:32263820..32266854-chr2:32389080..32393861,5	MCF-7	breast:
3	chr14:23398094..23398622-chr2:32390241..32390980,2	Hela-S3	cervix:
4	chr2:32388440..32390986-chr2:32579691..32583834,6	K562	blood:
5	chr2:32287339..32289467-chr2:32389793..32392170,2	MCF-7	breast:
6	chr17:77751563..77752252-chr2:32390356..32391194,2	HCT-116	colon:
7	chr2:32390024..32393805-chr2:32579476..32583220,6	K562	blood:
8	chr2:32263395..32265602-chr2:32389530..32391691,2	MCF-7	breast:
9	chr2:32264868..32267001-chr2:32389298..32391324,2	K562	blood:
10	chr2:32286352..32290626-chr2:32388602..32393371,12	K562	blood:
11	chr17:80055683..80056467-chr2:32390690..32391506,2	Hela-S3	cervix:
12	chr13:111365513..111366041-chr2:32390122..32390862,2	Hela-S3	cervix:
13	chr2:32389583..32392652-chr2:32503120..32506003,3	K562	blood:
14	chr2:27434377..27435229-chr2:32390388..32391013,2	Hela-S3	cervix:
15	chr2:32234641..32236375-chr2:32389314..32391737,5	MCF-7	breast:
16	chr2:32286363..32290764-chr2:32387862..32393371,13	K562	blood:
17	chr1:47133479..47134274-chr2:32390536..32391142,2	HCT-116	colon:
18	chr2:32287157..32290220-chr2:32389830..32392599,3	MCF-7	breast:
19	chr2:32233185..32238105-chr2:32388775..32395245,11	K562	blood:
20	chr2:32233077..32237611-chr2:32388376..32395245,10	K562	blood:
21	chr2:32388347..32391315-chr6:27100140..27102328,2	MCF-7	breast:
22	chr2:32390281..32391012-chr9:96213301..96214069,2	Hela-S3	cervix:
23	chr17:76355690..76356222-chr2:32390213..32391047,2	HCT-116	colon:
24	chr2:32389277..32392458-chr2:32500839..32506003,6	K562	blood:
25	chr2:32264101..32266985-chr2:32387828..32391332,6	K562	blood:

No data

Variant related genes	Relation type
SLC30A6	TF binding region
ENSG00000272716	TF binding region
SLC30A6	CpG island
ENSG00000272716	CpG island
ENSG00000169710	Chromatin interaction
ENSG00000138085	Chromatin interaction
ENSG00000021574	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000162961	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000123472	Chromatin interaction
ENSG00000119820	Chromatin interaction
ENSG00000115760	Chromatin interaction
ENSG00000100462	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000173894	Chromatin interaction
ENSG00000162959	Chromatin interaction
ENSG00000138074	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000184557	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12995113	1.00[ASN][1000 genomes]
rs71446057	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking 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 miRNA target site	39 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	chr2:32389200-32392000	Active TSS	NHLF	lung
2	chr2:32389400-32391600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:32389400-32391800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:32389400-32391800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:32389400-32392000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:32389400-32392600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:32389400-32392600	Active TSS	K562	blood
8	chr2:32389600-32391600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:32389600-32391600	Active TSS	A549	lung
10	chr2:32389600-32391800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:32389600-32391800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:32389600-32391800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:32389600-32392200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:32389600-32392200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:32389600-32392200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:32389800-32391200	Active TSS	Primary hematopoietic stem cells	blood
17	chr2:32389800-32391400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:32389800-32391400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr2:32389800-32391400	Active TSS	Fetal Kidney	kidney
20	chr2:32389800-32391400	Active TSS	HMEC	breast
21	chr2:32389800-32391600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr2:32389800-32391600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:32389800-32391600	Active TSS	Aorta	Aorta
24	chr2:32389800-32391600	Active TSS	Brain Angular Gyrus	brain
25	chr2:32389800-32391600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr2:32389800-32391600	Active TSS	Fetal Stomach	stomach
27	chr2:32389800-32391600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr2:32389800-32391600	Active TSS	NH-A	brain
29	chr2:32389800-32391800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:32389800-32391800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr2:32389800-32391800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:32389800-32391800	Active TSS	Stomach Mucosa	stomach
33	chr2:32389800-32392000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:32389800-32392000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:32389800-32392000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:32389800-32392200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr2:32389800-32392200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr2:32389800-32392200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:32389800-32392200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:32389800-32392200	Active TSS	Psoas Muscle	Psoas
41	chr2:32390000-32391000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:32390000-32391000	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr2:32390000-32391200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:32390000-32391200	Active TSS	Liver	Liver
45	chr2:32390000-32391200	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr2:32390000-32391400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:32390000-32391400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr2:32390000-32391400	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr2:32390000-32391400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr2:32390000-32391400	Active TSS	Brain Anterior Caudate	brain

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