Variant report

Variant	rs7560248
Chromosome Location	chr2:36998068-36998069
allele	C/T
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	FOXA2	chr2:36997811-36998100	HepG2	liver:	n/a	n/a
2	ZC3H11A	chr2:36997984-36998204	K562	blood:	n/a	n/a
3	USF2	chr2:36997849-36998149	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr2:36997940-36998090	Hela-S3	cervix:	n/a	chr2:36998027-36998043 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
5	RAD21	chr2:36997885-36998216	SK-N-SH_RA	brain:	n/a	chr2:36998028-36998042 chr2:36998024-36998043 chr2:36998081-36998100
6	CTCF	chr2:36997920-36998070	HPF	lung:	n/a	chr2:36998027-36998043 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
7	CTCF	chr2:36997980-36998130	HPAF	blood vessel:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
8	CTCF	chr2:36997960-36998110	AG10803	skin:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
9	CTCF	chr2:36997779-36998338	HCT-116	colon:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
10	CTCF	chr2:36997960-36998110	GM12864	blood:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
11	CTCF	chr2:36997908-36998183	LNCaP	prostate:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
12	CTCF	chr2:36997633-36998512	HCT-116	colon:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
13	RAD21	chr2:36997700-36998387	A549	lung:	n/a	chr2:36998028-36998042 chr2:36998024-36998043 chr2:36998081-36998100
14	ZNF143	chr2:36997848-36998222	K562	blood:	n/a	n/a
15	CTCF	chr2:36997980-36998130	AG09309	skin:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
16	SP4	chr2:36997884-36998283	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:36998040-36998190	NHDF-neo	bronchial:	n/a	chr2:36998083-36998101
18	RAD21	chr2:36997745-36998282	ECC-1	luminal epithelium:	n/a	chr2:36998028-36998042 chr2:36998024-36998043 chr2:36998081-36998100
19	RAD21	chr2:36997758-36998386	SK-N-SH	brain:	n/a	chr2:36998028-36998042 chr2:36998024-36998043 chr2:36998081-36998100
20	CTCF	chr2:36997982-36998099	Kidney_OC	kidney:	n/a	chr2:36998027-36998043 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
21	CTCF	chr2:36997920-36998070	HCT-116	colon:	n/a	chr2:36998027-36998043 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
22	HCFC1	chr2:36997872-36998195	K562	blood:	n/a	n/a
23	YY1	chr2:36997947-36998157	K562	blood:	n/a	n/a
24	CTCF	chr2:36997803-36998221	H1-hESC	embryonic stem cell:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
25	CTCF	chr2:36997940-36998090	AoAF	blood vessel:	n/a	chr2:36998027-36998043 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
26	TEAD4	chr2:36997854-36998268	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr2:36997905-36998210	ECC-1	luminal epithelium:	n/a	n/a
28	CTCF	chr2:36997892-36998200	ProgFib	skin:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
29	RAD21	chr2:36997913-36998120	K562	blood:	n/a	chr2:36998028-36998042 chr2:36998024-36998043 chr2:36998081-36998100
30	CTCF	chr2:36997960-36998110	AG09319	gingival:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
31	CTCF	chr2:36997939-36998116	ECC-1	luminal epithelium:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
32	RAD21	chr2:36997842-36998221	IMR90	lung:	n/a	chr2:36998028-36998042 chr2:36998024-36998043 chr2:36998081-36998100
33	CTCF	chr2:36997960-36998110	HBMEC	blood vessel:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
34	CTCF	chr2:36997847-36998225	IMR90	lung:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
35	JUND	chr2:36997700-36998217	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr2:36997960-36998110	GM12866	blood:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
37	CTCF	chr2:36997901-36998182	GM12892	blood:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
38	CTCF	chr2:36998000-36998150	RPTEC	kidney:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
39	RAD21	chr2:36997808-36998276	HepG2	liver:	n/a	chr2:36998028-36998042 chr2:36998024-36998043 chr2:36998081-36998100
40	RAD21	chr2:36997730-36998343	MCF-7	breast:	n/a	chr2:36998028-36998042 chr2:36998024-36998043 chr2:36998081-36998100
41	EP300	chr2:36997982-36998186	K562	blood:	n/a	n/a
42	CTCF	chr2:36997940-36998090	BJ	skin:	n/a	chr2:36998027-36998043 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
43	CTCF	chr2:36997940-36998090	HRE	kidney:	n/a	chr2:36998027-36998043 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
44	YY1	chr2:36997923-36998217	K562	blood:	n/a	n/a
45	RAD21	chr2:36997887-36998220	SK-N-SH_RA	brain:	n/a	chr2:36998028-36998042 chr2:36998024-36998043 chr2:36998081-36998100
46	SMC3	chr2:36997830-36998257	Hela-S3	cervix:	n/a	chr2:36998028-36998042
47	CTCF	chr2:36997980-36998130	Caco-2	colon:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
48	CTCF	chr2:36997960-36998110	GM12873	blood:	n/a	chr2:36998027-36998043 chr2:36998083-36998101 chr2:36998026-36998044 chr2:36998028-36998041 chr2:36998028-36998041
49	BACH1	chr2:36997827-36998168	K562	blood:	n/a	n/a
50	RAD21	chr2:36997683-36998302	HCT-116	colon:	n/a	chr2:36998028-36998042 chr2:36998024-36998043 chr2:36998081-36998100

No.	Distal block	Cell Line	Cell type
1	chr2:36922695..36923609-chr2:36997471..36998399,4	MCF-7	breast:
2	chr2:36928051..36929243-chr2:36997518..36998542,3	MCF-7	breast:
3	chr2:36997612..36998606-chr2:37012147..37012935,3	MCF-7	breast:
4	chr2:36997788..36998511-chr2:37012444..37013096,2	K562	blood:
5	chr2:36932681..36933457-chr2:36997721..36998478,3	MCF-7	breast:
6	chr2:36921939..36923848-chr2:36997589..36998532,16	MCF-7	breast:
7	chr2:36987514..36989270-chr2:36997117..36998900,2	K562	blood:
8	chr2:36928747..36929575-chr2:36997645..36998372,2	MCF-7	breast:

Variant related genes	Relation type
VIT	TF binding region
ENSG00000205221	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10179289	1.00[AMR][1000 genomes]
rs11124541	1.00[AMR][1000 genomes]
rs7592460	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	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1821275	chr2:36991736-37018278	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36993000-37001400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:36993200-37007200	Weak transcription	Ovary	ovary
3	chr2:36997800-36998200	Enhancers	HUVEC	blood vessel

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