Variant report

Variant	rs750443
Chromosome Location	chr2:86012676-86012677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86007675..86009231-chr2:86011148..86013060,2	MCF-7	breast:
2	chr2:86011226..86014071-chr2:86015355..86018702,3	K562	blood:
3	chr2:86012601..86015321-chr2:86017209..86019068,2	K562	blood:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1055770	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13001375	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34027204	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34117913	0.90[EUR][1000 genomes]
rs34284678	0.81[AMR][1000 genomes]
rs35074676	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4832199	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55974755	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71392945	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs736991	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750442	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576412	0.95[AMR][1000 genomes];0.97[EUR][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:82 , 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	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
4	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:86001800-86014200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:86002200-86015800	Weak transcription	A549	lung
7	chr2:86004000-86014000	Weak transcription	Gastric	stomach
8	chr2:86004800-86017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:86005400-86014400	Weak transcription	Fetal Intestine Large	intestine
10	chr2:86005400-86019200	Weak transcription	HUVEC	blood vessel
11	chr2:86006600-86019000	Weak transcription	Esophagus	oesophagus
12	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:86007000-86015400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:86007000-86019200	Weak transcription	Hela-S3	cervix
15	chr2:86007600-86012800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:86008000-86012800	Weak transcription	HepG2	liver
17	chr2:86008200-86016000	Weak transcription	Pancreas	Pancrea
18	chr2:86010400-86013800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:86010400-86014000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:86010600-86014400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr2:86011000-86013200	Enhancers	Spleen	Spleen
22	chr2:86011200-86012800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:86011200-86013400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:86011200-86013600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:86011200-86013800	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:86011400-86013000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:86011400-86014000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:86011600-86013400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:86011600-86013600	Genic enhancers	Adipose Nuclei	Adipose
30	chr2:86011600-86013600	Enhancers	NHDF-Ad	bronchial
31	chr2:86011600-86013600	Enhancers	NHLF	lung
32	chr2:86011600-86014000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:86011800-86013200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:86011800-86013200	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr2:86011800-86013400	Enhancers	Brain Anterior Caudate	brain
36	chr2:86011800-86013400	Enhancers	Psoas Muscle	Psoas
37	chr2:86011800-86013400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr2:86011800-86013400	Enhancers	NH-A	brain
39	chr2:86011800-86013600	Enhancers	Brain Hippocampus Middle	brain
40	chr2:86011800-86013800	Enhancers	HSMMtube	muscle
41	chr2:86011800-86014000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:86011800-86014400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:86011800-86014400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:86012000-86012800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:86012000-86012800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr2:86012000-86012800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr2:86012000-86013000	Enhancers	Fetal Heart	heart
48	chr2:86012000-86013200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:86012000-86013200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:86012000-86013200	Enhancers	Skeletal Muscle Male	skeletal muscle

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