Variant report

Variant	rs10505444
Chromosome Location	chr8:125592577-125592578
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125592407..125595560-chr8:125595966..125599501,3	K562	blood:
2	chr8:125591885..125595054-chr8:125597547..125600154,4	K562	blood:
3	chr8:125585583..125587177-chr8:125592083..125594736,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFB9-1	chr8:125591872-125592889	ENSG00000272486.1

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16899762	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56350078	1.00[EUR][1000 genomes]
rs57679308	1.00[EUR][1000 genomes]
rs57692957	1.00[EUR][1000 genomes]
rs58327286	1.00[EUR][1000 genomes]
rs59807139	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73345821	1.00[EUR][1000 genomes]
rs73345837	1.00[EUR][1000 genomes]
rs73345871	1.00[EUR][1000 genomes]
rs73345875	1.00[EUR][1000 genomes]
rs73345878	1.00[EUR][1000 genomes]
rs73345889	1.00[EUR][1000 genomes]
rs73345891	1.00[EUR][1000 genomes]
rs73707003	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1025014	chr8:125578314-125600950	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv275001	chr8:125584475-125593594	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566400-125600600	Weak transcription	NHEK	skin
3	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
6	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:125578000-125598600	Weak transcription	Gastric	stomach
8	chr8:125578200-125598000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:125581200-125596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
12	chr8:125585000-125598400	Strong transcription	Liver	Liver
13	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:125586000-125593400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:125586400-125596600	Strong transcription	Fetal Intestine Small	intestine
16	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:125586600-125598000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:125586800-125598200	Strong transcription	Primary B cells from cord blood	blood
19	chr8:125586800-125598200	Weak transcription	Pancreas	Pancrea
20	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
21	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial
22	chr8:125587000-125597000	Strong transcription	Fetal Brain Female	brain
23	chr8:125587000-125603400	Weak transcription	Stomach Mucosa	stomach
24	chr8:125587200-125595600	Weak transcription	Brain Substantia Nigra	brain
25	chr8:125587200-125605400	Weak transcription	Fetal Lung	lung
26	chr8:125587200-125605800	Weak transcription	Psoas Muscle	Psoas
27	chr8:125588000-125593200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:125588000-125594800	Weak transcription	Fetal Heart	heart
29	chr8:125588200-125592800	Strong transcription	Fetal Muscle Leg	muscle
30	chr8:125588400-125592800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:125588600-125596000	Strong transcription	Spleen	Spleen
32	chr8:125588800-125597400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:125588800-125603400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:125589000-125595400	Strong transcription	Brain Germinal Matrix	brain
35	chr8:125589200-125592800	Strong transcription	Esophagus	oesophagus
36	chr8:125589200-125595400	Strong transcription	Left Ventricle	heart
37	chr8:125589400-125594400	Weak transcription	HSMMtube	muscle
38	chr8:125589600-125597200	Strong transcription	Fetal Intestine Large	intestine
39	chr8:125589800-125592800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:125589800-125593600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:125589800-125597600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:125590000-125592600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:125590000-125593200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:125590200-125592800	Strong transcription	Brain Hippocampus Middle	brain
45	chr8:125590200-125592800	Strong transcription	Lung	lung
46	chr8:125590200-125596400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:125590200-125596800	Strong transcription	HMEC	breast
48	chr8:125590400-125597400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:125590600-125593400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr8:125590600-125594200	Weak transcription	K562	blood

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