Variant report

Variant	rs55878237
Chromosome Location	chr8:131390017-131390018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131389274..131391733-chr8:131394975..131397039,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11996310	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13252244	0.81[EUR][1000 genomes]
rs34962169	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73425525	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73711692	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73711697	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9649962	1.00[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
2	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
3	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:131371800-131396400	Weak transcription	HepG2	liver
5	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
6	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
8	chr8:131377400-131390600	Weak transcription	Left Ventricle	heart
9	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:131382600-131398800	Weak transcription	Lung	lung
12	chr8:131382800-131390200	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:131383200-131392000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:131383200-131396600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:131383200-131397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:131383800-131393200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
18	chr8:131384000-131400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:131384200-131390400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:131384600-131397000	Weak transcription	Ovary	ovary
21	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
22	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
23	chr8:131385000-131392000	Weak transcription	Esophagus	oesophagus
24	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
25	chr8:131387000-131398000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:131387400-131390800	Weak transcription	HUVEC	blood vessel
27	chr8:131388000-131390400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:131388000-131390600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:131388400-131392000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:131388600-131391800	Weak transcription	HSMMtube	muscle
31	chr8:131388600-131392000	Weak transcription	Osteobl	bone
32	chr8:131388600-131392200	Weak transcription	Hela-S3	cervix
33	chr8:131388600-131392600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:131388600-131393400	Weak transcription	NH-A	brain
35	chr8:131388600-131396000	Weak transcription	Right Ventricle	heart
36	chr8:131388600-131396200	Weak transcription	HMEC	breast
37	chr8:131388600-131397000	Weak transcription	NHDF-Ad	bronchial
38	chr8:131388600-131398600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:131388600-131398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:131388600-131400200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:131388600-131407200	Weak transcription	HSMM	muscle
42	chr8:131388800-131390400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:131388800-131391200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:131388800-131392200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:131388800-131400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:131388800-131400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:131388800-131400800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:131389200-131390600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea

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