Variant report

Variant	rs72844421
Chromosome Location	chr2:85729948-85729949
allele	A/G
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	chr2:85729885..85732637-chr2:85779095..85781811,2	K562	blood:
2	chr2:85729360..85731940-chr2:85770278..85775581,5	K562	blood:
3	chr2:85721306..85734455-chr2:85761299..85769531,43	K562	blood:
4	chr2:85645586..85649656-chr2:85727424..85730259,4	K562	blood:
5	chr2:85647597..85649656-chr2:85727271..85730259,3	K562	blood:
6	chr2:85613848..85616699-chr2:85729476..85732322,2	K562	blood:
7	chr2:85729372..85732165-chr2:85769657..85772288,2	MCF-7	breast:
8	chr2:85727108..85732235-chr2:85765066..85768595,7	MCF-7	breast:
9	chr2:85728478..85734662-chr2:85763857..85768220,13	MCF-7	breast:
10	chr2:85722180..85736122-chr2:85762661..85770266,54	K562	blood:
11	chr2:85722294..85724723-chr2:85726333..85730393,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115486	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000273196	Chromatin interaction
ENSG00000115459	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]
rs12463705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
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]
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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85723800-85730600	Weak transcription	Small Intestine	intestine
2	chr2:85725800-85730800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:85726000-85735000	Enhancers	NHDF-Ad	bronchial
4	chr2:85726200-85730600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:85726200-85730600	Weak transcription	NH-A	brain
6	chr2:85726400-85730000	Weak transcription	Right Ventricle	heart
7	chr2:85726400-85730000	Weak transcription	Spleen	Spleen
8	chr2:85726400-85730400	Weak transcription	HSMMtube	muscle
9	chr2:85726400-85732000	Weak transcription	Fetal Thymus	thymus
10	chr2:85726400-85734400	Enhancers	A549	lung
11	chr2:85727000-85732400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:85727200-85730400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:85727400-85731800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:85727600-85730000	Weak transcription	NHLF	lung
15	chr2:85727600-85730400	Enhancers	HepG2	liver
16	chr2:85727600-85731800	Weak transcription	Lung	lung
17	chr2:85727600-85732000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:85727800-85730000	Weak transcription	Liver	Liver
19	chr2:85727800-85732600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:85727800-85733200	Enhancers	HUVEC	blood vessel
21	chr2:85728400-85730600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:85728600-85730400	Enhancers	HSMM	muscle
23	chr2:85728800-85730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:85728800-85730200	Enhancers	Primary B cells from cord blood	blood
25	chr2:85728800-85730600	Enhancers	Fetal Intestine Large	intestine
26	chr2:85728800-85732600	Enhancers	K562	blood
27	chr2:85729000-85732000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:85729200-85730800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:85729200-85730800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:85729200-85730800	Enhancers	Hela-S3	cervix
31	chr2:85729200-85731200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:85729200-85732800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:85729200-85733200	Enhancers	Stomach Mucosa	stomach
34	chr2:85729400-85730600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:85729400-85730600	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:85729400-85730800	Enhancers	Fetal Intestine Small	intestine
37	chr2:85729400-85731000	Enhancers	NHEK	skin
38	chr2:85729400-85731400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr2:85729400-85732400	Enhancers	Gastric	stomach
40	chr2:85729400-85732400	Enhancers	Pancreas	Pancrea
41	chr2:85729400-85733200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:85729400-85733200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:85729400-85733200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:85729400-85733200	Enhancers	Placenta	Placenta
45	chr2:85729400-85733200	Enhancers	Left Ventricle	heart
46	chr2:85729400-85733200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr2:85729400-85735000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:85729600-85733200	Enhancers	Fetal Muscle Leg	muscle
49	chr2:85729600-85733400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:85729600-85733400	Enhancers	Skeletal Muscle Female	skeletal muscle

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