Variant report

Variant	rs55974755
Chromosome Location	chr2:86010847-86010848
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85988970..85991033-chr2:86009330..86011964,2	K562	blood:
2	chr2:85998588..86002655-chr2:86008368..86012059,3	MCF-7	breast:
3	chr2:86005755..86007502-chr2:86009550..86012343,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1055770	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11679995	0.83[ASN][1000 genomes]
rs11691015	0.83[ASN][1000 genomes]
rs13001375	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13035450	0.83[ASN][1000 genomes]
rs13388951	0.83[ASN][1000 genomes]
rs34027204	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34117913	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34284678	0.81[AMR][1000 genomes]
rs35074676	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832014	0.83[ASN][1000 genomes]
rs4832199	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832201	0.83[ASN][1000 genomes]
rs71392945	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736991	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs748064	0.83[ASN][1000 genomes]
rs750442	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs750443	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7576412	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609043	0.83[ASN][1000 genomes]
rs7609084	0.83[ASN][1000 genomes]
rs7609441	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001200-86012800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:86001600-86011800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
5	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:86001800-86014200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:86002200-86012600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:86002200-86015800	Weak transcription	A549	lung
9	chr2:86002400-86011200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:86002800-86011800	Weak transcription	HSMMtube	muscle
11	chr2:86004000-86014000	Weak transcription	Gastric	stomach
12	chr2:86004800-86011000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:86004800-86017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:86005400-86014400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:86005400-86019200	Weak transcription	HUVEC	blood vessel
16	chr2:86005800-86011200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:86005800-86011800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:86006000-86011200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:86006000-86012000	Weak transcription	Fetal Heart	heart
20	chr2:86006600-86019000	Weak transcription	Esophagus	oesophagus
21	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:86007000-86012000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:86007000-86012200	Weak transcription	Brain Germinal Matrix	brain
24	chr2:86007000-86015400	Weak transcription	Brain Angular Gyrus	brain
25	chr2:86007000-86019200	Weak transcription	Hela-S3	cervix
26	chr2:86007200-86011000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:86007200-86011800	Weak transcription	Brain Anterior Caudate	brain
28	chr2:86007400-86011000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:86007400-86012600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:86007600-86011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:86007600-86011800	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:86007600-86012600	Weak transcription	Liver	Liver
33	chr2:86007600-86012800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:86007800-86011600	Weak transcription	Brain Substantia Nigra	brain
35	chr2:86008000-86011600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:86008000-86012800	Weak transcription	HepG2	liver
37	chr2:86008200-86011000	Weak transcription	Spleen	Spleen
38	chr2:86008200-86011200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:86008200-86011400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:86008200-86011800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:86008200-86011800	Weak transcription	Psoas Muscle	Psoas
42	chr2:86008200-86012000	Weak transcription	Left Ventricle	heart
43	chr2:86008200-86012200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:86008200-86012400	Weak transcription	Colonic Mucosa	Colon
45	chr2:86008200-86016000	Weak transcription	Pancreas	Pancrea
46	chr2:86008400-86011600	Weak transcription	NHDF-Ad	bronchial
47	chr2:86008400-86011600	Weak transcription	NHLF	lung
48	chr2:86008400-86011600	Weak transcription	Osteobl	bone
49	chr2:86008400-86011800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:86008400-86011800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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