Variant report

Variant	rs10190862
Chromosome Location	chr2:47120283-47120284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47118545..47121199-chr2:47125115..47128458,4	K562	blood:
2	chr2:47114899..47116611-chr2:47118256..47121288,3	K562	blood:

Variant related genes	Relation type
ENSG00000228925	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10190882	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197474	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13394007	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13410702	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13415655	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13415771	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13419072	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17035813	0.81[EUR][1000 genomes]
rs17035823	0.81[EUR][1000 genomes]
rs17035859	0.94[EUR][1000 genomes]
rs17035867	0.94[EUR][1000 genomes]
rs17035884	0.94[EUR][1000 genomes]
rs2084192	0.88[EUR][1000 genomes]
rs55872217	0.94[EUR][1000 genomes]
rs56213467	0.94[EUR][1000 genomes]
rs58589709	0.94[EUR][1000 genomes]
rs60194846	0.88[EUR][1000 genomes]
rs62136788	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136818	0.94[EUR][1000 genomes]
rs62136819	0.94[EUR][1000 genomes]
rs62136820	0.94[EUR][1000 genomes]
rs62136822	0.94[EUR][1000 genomes]
rs6544938	0.84[EUR][1000 genomes]
rs6714269	0.81[EUR][1000 genomes]
rs6715391	0.94[EUR][1000 genomes]
rs6715620	0.94[EUR][1000 genomes]
rs6729120	0.94[EUR][1000 genomes]
rs6743994	0.94[EUR][1000 genomes]
rs6745578	0.89[EUR][1000 genomes]
rs71423929	0.88[EUR][1000 genomes]
rs720827	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7340475	0.94[EUR][1000 genomes]
rs73926966	0.94[EUR][1000 genomes]
rs754411	0.94[EUR][1000 genomes]
rs7575172	0.88[EUR][1000 genomes]
rs7596198	0.94[EUR][1000 genomes]
rs8861	0.94[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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10190862	MCFD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
2	chr2:47109400-47125200	Weak transcription	Spleen	Spleen
3	chr2:47113200-47131200	Weak transcription	Aorta	Aorta
4	chr2:47116000-47133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:47116200-47120600	Weak transcription	NHDF-Ad	bronchial
6	chr2:47116200-47121600	Weak transcription	Fetal Brain Male	brain
7	chr2:47116200-47127400	Weak transcription	Fetal Stomach	stomach
8	chr2:47116200-47128200	Weak transcription	HSMM	muscle
9	chr2:47116200-47128400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:47116200-47128400	Weak transcription	NH-A	brain
11	chr2:47116200-47133000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:47116600-47125200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:47116600-47128000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:47116600-47128200	Weak transcription	Fetal Thymus	thymus
15	chr2:47116600-47129600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:47116600-47129800	Weak transcription	Osteobl	bone
17	chr2:47116600-47131000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:47116600-47131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:47116600-47131800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:47116600-47132200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:47116600-47132400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:47116600-47132400	Weak transcription	NHEK	skin
23	chr2:47116800-47120600	Weak transcription	Hela-S3	cervix
24	chr2:47116800-47131000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:47117200-47120600	Weak transcription	A549	lung
26	chr2:47117400-47133200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:47117800-47131200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:47119400-47120600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:47119400-47123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:47119600-47140800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:47119800-47125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:47120000-47130800	Weak transcription	Left Ventricle	heart
33	chr2:47120000-47133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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