Variant report

Variant	rs7919424
Chromosome Location	chr10:50384525-50384526
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50384432..50385996-chr10:50507928..50509644,2	K562	blood:
2	chr10:50372843..50375654-chr10:50384413..50387038,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204161	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10776545	0.84[AMR][1000 genomes]
rs10857440	0.84[AMR][1000 genomes]
rs11100994	0.88[AMR][1000 genomes]
rs11814668	0.88[AMR][1000 genomes]
rs11815070	0.88[AMR][1000 genomes]
rs17774010	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17774028	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17774058	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45563932	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs55648711	0.84[AMR][1000 genomes]
rs55936311	0.88[AMR][1000 genomes]
rs56081724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7073558	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7073561	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72785060	0.81[AMR][1000 genomes]
rs72785072	0.84[AMR][1000 genomes]
rs72785076	0.84[AMR][1000 genomes]
rs72785084	0.88[AMR][1000 genomes]
rs72785087	0.88[AMR][1000 genomes]
rs72786903	0.88[AMR][1000 genomes]
rs72789086	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72789089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72789095	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72789097	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7900761	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7905715	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7919424	C10orf128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50367600-50384600	Weak transcription	Dnd41	blood
2	chr10:50372800-50386200	Weak transcription	Pancreas	Pancrea
3	chr10:50373200-50385200	Weak transcription	Colon Smooth Muscle	Colon
4	chr10:50376800-50395200	Enhancers	Primary B cells from peripheral blood	blood
5	chr10:50378000-50386000	Enhancers	Fetal Muscle Leg	muscle
6	chr10:50378000-50388600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:50378600-50384800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:50380200-50385200	Weak transcription	HSMMtube	muscle
9	chr10:50380400-50386600	Enhancers	Right Ventricle	heart
10	chr10:50380600-50386400	Enhancers	Fetal Muscle Trunk	muscle
11	chr10:50381000-50385000	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:50381200-50384800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:50381400-50385000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:50381600-50385000	Weak transcription	Esophagus	oesophagus
15	chr10:50381800-50394800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:50382200-50386600	Enhancers	Left Ventricle	heart
17	chr10:50382200-50390000	Enhancers	K562	blood
18	chr10:50382800-50384600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:50382800-50384800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr10:50382800-50385600	Enhancers	Right Atrium	heart
21	chr10:50383000-50385000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr10:50383200-50384600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:50383200-50385000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:50383400-50384800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:50383400-50384800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr10:50383400-50385000	Weak transcription	Fetal Intestine Small	intestine
27	chr10:50383400-50385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:50383400-50386200	Enhancers	Placenta	Placenta
29	chr10:50383400-50386600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr10:50383400-50395200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:50383800-50384800	Enhancers	GM12878-XiMat	blood
32	chr10:50383800-50387200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr10:50384000-50386200	Enhancers	Colonic Mucosa	Colon
34	chr10:50384000-50386600	Enhancers	NHDF-Ad	bronchial
35	chr10:50384200-50384800	Weak transcription	Spleen	Spleen
36	chr10:50384200-50385200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr10:50384200-50385600	Enhancers	Duodenum Mucosa	Duodenum
38	chr10:50384200-50386000	Enhancers	Brain Anterior Caudate	brain
39	chr10:50384200-50386200	Bivalent Enhancer	Fetal Stomach	stomach
40	chr10:50384200-50386400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr10:50384200-50386600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:50384200-50386600	Enhancers	Lung	lung
43	chr10:50384200-50387000	Enhancers	Adipose Nuclei	Adipose
44	chr10:50384200-50387000	Enhancers	Brain Substantia Nigra	brain
45	chr10:50384200-50389600	Enhancers	Primary B cells from cord blood	blood
46	chr10:50384400-50384600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr10:50384400-50384800	Weak transcription	Fetal Thymus	thymus
48	chr10:50384400-50385000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr10:50384400-50386200	Enhancers	Brain Angular Gyrus	brain
50	chr10:50384400-50386800	Enhancers	Brain Inferior Temporal Lobe	brain

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