Variant report

Variant	rs61381693
Chromosome Location	chr2:113525912-113525913
allele	A/C
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	chr2:113525900-113526050	HFF-Myc	foreskin:	n/a	n/a
2	CTCF	chr2:113525880-113526030	HMEC	breast:	n/a	n/a
3	CTCF	chr2:113525900-113526050	HCT-116	colon:	n/a	n/a
4	IRF1	chr2:113525548-113525995	K562	blood:	n/a	chr2:113525785-113525806
5	IRF1	chr2:113525600-113525984	K562	blood:	n/a	chr2:113525785-113525806
6	CTCF	chr2:113525780-113525930	HMF	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113520342..113522645-chr2:113523345..113525972,2	K562	blood:
2	chr2:113524833..113528403-chr2:113530535..113535066,4	K562	blood:

Variant related genes	Relation type
CKAP2L	TF binding region
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1040193	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11677416	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898680	0.82[AMR][1000 genomes]
rs1304037	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1516789	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1516790	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800587	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800794	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1878318	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878319	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878320	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878321	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894399	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071375	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856836	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856837	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856840	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856841	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34015482	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783514	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783520	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783557	0.99[EUR][1000 genomes]
rs3783559	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848299	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848300	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848303	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848304	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849119	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59674541	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542090	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542091	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542092	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542093	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542094	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825514	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825532	0.83[EUR][1000 genomes]
rs7368808	0.83[EUR][1000 genomes]
rs7570215	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583261	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113522800-113541600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113523000-113529400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:113523200-113526000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:113523200-113526000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:113523400-113529800	Weak transcription	K562	blood
6	chr2:113523400-113531400	Weak transcription	Fetal Heart	heart
7	chr2:113523400-113539200	Weak transcription	Hela-S3	cervix
8	chr2:113523800-113532200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:113523800-113534600	Weak transcription	HMEC	breast
10	chr2:113525200-113526000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:113525200-113526000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:113525200-113526000	Flanking Active TSS	Dnd41	blood
13	chr2:113525200-113526000	ZNF genes & repeats	GM12878-XiMat	blood
14	chr2:113525200-113526200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr2:113525400-113526000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:113525400-113526000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:113525400-113526000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr2:113525400-113526000	Enhancers	Primary B cells from cord blood	blood
19	chr2:113525400-113526000	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr2:113525400-113526000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr2:113525400-113526000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr2:113525400-113526000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:113525400-113526000	Active TSS	NHLF	lung
24	chr2:113525400-113526200	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:113525400-113526200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:113525400-113526200	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:113525400-113526600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr2:113525400-113526600	Enhancers	A549	lung
29	chr2:113525400-113526800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:113525600-113526000	Active TSS	Primary T cells fromperipheralblood	blood
31	chr2:113525600-113526000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:113525600-113526000	Active TSS	Adipose Nuclei	Adipose
33	chr2:113525600-113526000	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:113525600-113526000	Active TSS	Colon Smooth Muscle	Colon
35	chr2:113525600-113526000	Active TSS	Duodenum Mucosa	Duodenum
36	chr2:113525600-113526000	Active TSS	Right Atrium	heart
37	chr2:113525600-113526000	Flanking Active TSS	HepG2	liver
38	chr2:113525600-113526000	Flanking Active TSS	HUVEC	blood vessel
39	chr2:113525600-113526000	Active TSS	Osteobl	bone
40	chr2:113525600-113526200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:113525600-113526200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:113525600-113526200	Enhancers	Brain Anterior Caudate	brain
43	chr2:113525600-113526200	Enhancers	NHEK	skin
44	chr2:113525600-113526400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:113525600-113527600	Weak transcription	Spleen	Spleen
46	chr2:113525800-113526000	Active TSS	NHDF-Ad	bronchial
47	chr2:113525800-113526200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:113525800-113529800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:113525800-113529800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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