Variant report

Variant	rs6542091
Chromosome Location	chr2:113525311-113525312
allele	A/G
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	CBX3	chr2:113525257-113525623	K562	blood:	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: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1040193	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11677416	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1304037	0.96[AFR][1000 genomes];1.00[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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800587	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800794	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1878318	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878319	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878320	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878321	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894399	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071375	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856836	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856837	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856840	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856841	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34015482	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783514	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783520	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783557	0.99[EUR][1000 genomes]
rs3783559	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848300	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848303	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848304	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849119	0.96[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]
rs61381693	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542090	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542093	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542094	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825514	0.96[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583261	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592947	0.88[AFR][1000 genomes]
rs7604926	0.89[AFR][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:56 , 50 per page) page: 1 2

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

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