Variant report

Variant	rs71411829
Chromosome Location	chr2:85732718-85732719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85721306..85734455-chr2:85761299..85769531,43	K562	blood:
2	chr2:85645483..85647774-chr2:85732613..85735796,4	MCF-7	breast:
3	chr2:85728122..85729629-chr2:85731841..85734729,2	K562	blood:
4	chr2:85731894..85733463-chr2:85739808..85742655,2	K562	blood:
5	chr2:85728478..85734662-chr2:85763857..85768220,13	MCF-7	breast:
6	chr2:85731450..85735055-chr2:85743773..85747296,3	K562	blood:
7	chr2:85722180..85736122-chr2:85762661..85770266,54	K562	blood:

Variant related genes	Relation type
ENSG00000168906	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000152292	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10196363	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12165190	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13420118	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13420256	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28805618	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35300715	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4331503	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73943229	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9973557	0.89[AMR][1000 genomes];0.91[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85726000-85735000	Enhancers	NHDF-Ad	bronchial
2	chr2:85726400-85734400	Enhancers	A549	lung
3	chr2:85727800-85733200	Enhancers	HUVEC	blood vessel
4	chr2:85729200-85732800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:85729200-85733200	Enhancers	Stomach Mucosa	stomach
6	chr2:85729400-85733200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:85729400-85733200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:85729400-85733200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:85729400-85733200	Enhancers	Placenta	Placenta
10	chr2:85729400-85733200	Enhancers	Left Ventricle	heart
11	chr2:85729400-85733200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr2:85729400-85735000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:85729600-85733200	Enhancers	Fetal Muscle Leg	muscle
14	chr2:85729600-85733400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:85729600-85733400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:85729600-85733600	Enhancers	Adipose Nuclei	Adipose
17	chr2:85729600-85733600	Enhancers	HMEC	breast
18	chr2:85729600-85734600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:85729600-85734600	Enhancers	Osteobl	bone
20	chr2:85729800-85733200	Enhancers	Colonic Mucosa	Colon
21	chr2:85729800-85735000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:85729800-85738000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:85730000-85733200	Enhancers	Brain Substantia Nigra	brain
24	chr2:85730000-85733400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:85730000-85733400	Enhancers	Right Ventricle	heart
26	chr2:85730000-85734600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:85730000-85735000	Enhancers	NHLF	lung
28	chr2:85730400-85733200	Enhancers	Esophagus	oesophagus
29	chr2:85730400-85733600	Enhancers	Fetal Muscle Trunk	muscle
30	chr2:85730400-85734600	Enhancers	HSMMtube	muscle
31	chr2:85730600-85733200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:85730600-85733600	Enhancers	Small Intestine	intestine
33	chr2:85730600-85733600	Enhancers	NH-A	brain
34	chr2:85730600-85738000	Weak transcription	Spleen	Spleen
35	chr2:85731200-85733200	Genic enhancers	Fetal Intestine Small	intestine
36	chr2:85731200-85733200	Enhancers	Right Atrium	heart
37	chr2:85731400-85733000	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:85731400-85733200	Bivalent Enhancer	HepG2	liver
39	chr2:85731400-85733400	Enhancers	NHEK	skin
40	chr2:85731400-85733800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:85731400-85734600	Enhancers	HSMM	muscle
42	chr2:85731400-85735200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:85731600-85734400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:85731800-85732800	Weak transcription	Psoas Muscle	Psoas
45	chr2:85731800-85733200	Enhancers	Lung	lung
46	chr2:85732000-85733200	Flanking Active TSS	Hela-S3	cervix
47	chr2:85732000-85738600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:85732200-85732800	Weak transcription	Ovary	ovary
49	chr2:85732200-85732800	Enhancers	Stomach Smooth Muscle	stomach
50	chr2:85732400-85732800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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