Variant report

Variant	rs45527541
Chromosome Location	chr2:31609749-31609750
allele	G/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	CTCF	chr2:31609540-31609822	HepG2	liver:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
2	CTCF	chr2:31609640-31609790	BJ	skin:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
3	CTCF	chr2:31609680-31609830	GM12869	blood:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
4	CTCF	chr2:31609583-31609805	GM12878	blood:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
5	CTCF	chr2:31609620-31609770	GM12878	blood:	n/a	n/a
6	MAZ	chr2:31609587-31609890	K562	blood:	n/a	n/a
7	CTCF	chr2:31609684-31609772	GM19239	blood:	n/a	n/a
8	CTCF	chr2:31609620-31609770	HA-sp	spinal cord:	n/a	n/a
9	CTCF	chr2:31609620-31609770	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr2:31609640-31609790	HRPEpiC	eye:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
11	CTCF	chr2:31609660-31609810	HCT-116	colon:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
12	CTCF	chr2:31609585-31609792	SK-N-SH_RA	brain:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
13	CTCF	chr2:31609640-31609790	HRE	kidney:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
14	CTCF	chr2:31609640-31609790	AG10803	skin:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
15	CTCF	chr2:31609540-31609830	HFF-Myc	foreskin:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
16	CTCF	chr2:31609620-31609770	GM12865	blood:	n/a	n/a
17	CTCF	chr2:31609640-31609790	GM12864	blood:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
18	CTCF	chr2:31609640-31609790	AG09319	gingival:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
19	CTCF	chr2:31609613-31609805	K562	blood:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
20	CTCF	chr2:31609640-31609790	Hela-S3	cervix:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
21	CTCF	chr2:31609654-31609805	GM19240	blood:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
22	CTCF	chr2:31609600-31609750	K562	blood:	n/a	n/a
23	CTCF	chr2:31609658-31609820	H1-hESC	embryonic stem cell:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
24	RAD21	chr2:31609523-31609836	SK-N-SH_RA	brain:	n/a	chr2:31609762-31609774 chr2:31609760-31609773 chr2:31609762-31609772 chr2:31609757-31609776
25	CTCF	chr2:31609640-31609790	SK-N-SH_RA	brain:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
26	CTCF	chr2:31609680-31609830	NB4	blood:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
27	CTCF	chr2:31609640-31609790	HBMEC	blood vessel:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
28	CTCF	chr2:31609620-31609770	SAEC	small airway:	n/a	n/a
29	CTCF	chr2:31609640-31609790	HPAF	blood vessel:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
30	CTCF	chr2:31609660-31609810	A549	lung:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
31	CTCF	chr2:31609640-31609790	HMF	breast:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
32	CTCF	chr2:31609620-31609770	AG04449	skin:	n/a	n/a
33	CTCF	chr2:31609660-31609810	MCF-7	breast:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
34	CTCF	chr2:31609663-31609791	MCF-7	breast:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
35	CTCF	chr2:31609660-31609810	GM12868	blood:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
36	RAD21	chr2:31609617-31609816	HepG2	liver:	n/a	chr2:31609762-31609774 chr2:31609760-31609773 chr2:31609762-31609772 chr2:31609757-31609776
37	CTCF	chr2:31609660-31609801	SK-N-SH_RA	brain:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
38	CTCF	chr2:31609640-31609790	HepG2	liver:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
39	CTCF	chr2:31609640-31609790	GM12865	blood:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
40	CTCF	chr2:31609640-31609790	K562	blood:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
41	CTCF	chr2:31609620-31609770	HMF	breast:	n/a	n/a
42	CTCF	chr2:31609660-31609810	HRPEpiC	eye:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
43	CTCF	chr2:31609568-31609931	K562	blood:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
44	RAD21	chr2:31609558-31609781	H1-hESC	embryonic stem cell:	n/a	chr2:31609762-31609774 chr2:31609760-31609773 chr2:31609762-31609772 chr2:31609757-31609776
45	CTCF	chr2:31609640-31609805	NHEK	skin:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
46	RAD21	chr2:31609646-31609815	K562	blood:	n/a	chr2:31609762-31609774 chr2:31609760-31609773 chr2:31609762-31609772 chr2:31609757-31609776
47	CTCF	chr2:31609660-31609822	Hela-S3	cervix:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
48	CTCF	chr2:31609683-31609814	LNCaP	prostate:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
49	CTCF	chr2:31609660-31609810	HMEC	breast:	n/a	chr2:31609758-31609779 chr2:31609756-31609774
50	CTCF	chr2:31609620-31609770	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31609265..31610186-chr2:31954524..31955433,2	MCF-7	breast:

Variant related genes	Relation type
XDH	TF binding region

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

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

rs_ID	r²[population]
rs11885410	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
4	chr2:31586000-31613000	Weak transcription	Small Intestine	intestine
5	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:31599600-31636600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:31602200-31613400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr2:31602800-31614200	Strong transcription	Liver	Liver
9	chr2:31603000-31612000	Strong transcription	Fetal Intestine Large	intestine
10	chr2:31603000-31612400	Strong transcription	Fetal Intestine Small	intestine
11	chr2:31604600-31609800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:31605200-31612600	Genic enhancers	NHEK	skin
13	chr2:31606200-31610600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:31606600-31612600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:31607800-31614400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:31608400-31609800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:31608800-31612000	Weak transcription	Esophagus	oesophagus
18	chr2:31609200-31610200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:31609400-31609800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:31609400-31610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:31609400-31611200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:31609400-31611400	Enhancers	A549	lung
23	chr2:31609400-31613200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:31609400-31621200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:31609400-31623800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:31609600-31610000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:31609600-31610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:31609600-31610600	Strong transcription	HMEC	breast

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