Variant report

Variant	rs12463705
Chromosome Location	chr2:85728270-85728271
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85723222..85725755-chr2:85726962..85728485,2	MCF-7	breast:
2	chr2:85726132..85728834-chr2:85772359..85774217,2	K562	blood:
3	chr2:85728269..85729808-chr2:85733474..85735873,2	MCF-7	breast:
4	chr2:85721306..85734455-chr2:85761299..85769531,43	K562	blood:
5	chr2:85726565..85729187-chr2:85739922..85742160,2	K562	blood:
6	chr2:85645586..85649656-chr2:85727424..85730259,4	K562	blood:
7	chr2:85647597..85649656-chr2:85727271..85730259,3	K562	blood:
8	chr2:85727108..85732235-chr2:85765066..85768595,7	MCF-7	breast:
9	chr2:85722180..85736122-chr2:85762661..85770266,54	K562	blood:
10	chr2:85728122..85729629-chr2:85731841..85734729,2	K562	blood:
11	chr2:85722294..85724723-chr2:85726333..85730393,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168906	Chromatin interaction
ENSG00000152292	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12465420	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12468473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12470070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12470640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12471036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12473357	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12473382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17026447	0.83[EUR][1000 genomes]
rs17792131	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2028899	0.83[EUR][1000 genomes]
rs6704863	0.83[EUR][1000 genomes]
rs68055751	1.00[EUR][1000 genomes]
rs72843836	0.83[EUR][1000 genomes]
rs72843839	0.83[EUR][1000 genomes]
rs72843846	0.83[EUR][1000 genomes]
rs72844407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844409	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844426	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85723800-85730600	Weak transcription	Small Intestine	intestine
2	chr2:85725600-85729200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr2:85725800-85728800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:85725800-85730800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:85726000-85735000	Enhancers	NHDF-Ad	bronchial
6	chr2:85726200-85729600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:85726200-85730600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:85726200-85730600	Weak transcription	NH-A	brain
9	chr2:85726400-85729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:85726400-85729600	Weak transcription	HMEC	breast
11	chr2:85726400-85730000	Weak transcription	Right Ventricle	heart
12	chr2:85726400-85730000	Weak transcription	Spleen	Spleen
13	chr2:85726400-85730400	Weak transcription	HSMMtube	muscle
14	chr2:85726400-85732000	Weak transcription	Fetal Thymus	thymus
15	chr2:85726400-85734400	Enhancers	A549	lung
16	chr2:85726600-85729400	Weak transcription	Placenta	Placenta
17	chr2:85726800-85728800	Weak transcription	Fetal Intestine Large	intestine
18	chr2:85726800-85728800	Enhancers	Hela-S3	cervix
19	chr2:85726800-85729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:85727000-85728800	Flanking Active TSS	K562	blood
21	chr2:85727000-85729200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:85727000-85732400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:85727200-85728400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:85727200-85728600	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:85727200-85730400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:85727400-85728400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:85727400-85729400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:85727400-85729400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:85727400-85729600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:85727400-85731800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:85727600-85728400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:85727600-85728600	Weak transcription	Stomach Mucosa	stomach
33	chr2:85727600-85728600	Weak transcription	HSMM	muscle
34	chr2:85727600-85729400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:85727600-85729400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:85727600-85729400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:85727600-85729400	Weak transcription	Pancreas	Pancrea
38	chr2:85727600-85729400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:85727600-85729600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:85727600-85729600	Weak transcription	Osteobl	bone
41	chr2:85727600-85730000	Weak transcription	NHLF	lung
42	chr2:85727600-85730400	Enhancers	HepG2	liver
43	chr2:85727600-85731800	Weak transcription	Lung	lung
44	chr2:85727600-85732000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:85727800-85729400	Weak transcription	NHEK	skin
46	chr2:85727800-85729800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:85727800-85729800	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:85727800-85730000	Weak transcription	Liver	Liver
49	chr2:85727800-85732600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:85727800-85733200	Enhancers	HUVEC	blood vessel

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