Variant report

Variant	rs7578781
Chromosome Location	chr2:47121192-47121193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47118545..47121199-chr2:47125115..47128458,4	K562	blood:
2	chr2:47105936..47108502-chr2:47120489..47122812,2	K562	blood:
3	chr2:47115779..47117339-chr2:47120476..47123215,2	K562	blood:
4	chr2:47114899..47116611-chr2:47118256..47121288,3	K562	blood:

Variant related genes	Relation type
ENSG00000228925	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10188304	0.96[CEU][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs11125100	0.86[ASN][1000 genomes]
rs11678978	0.83[ASN][1000 genomes]
rs11683232	0.91[CEU][hapmap];0.85[CHB][hapmap];0.94[MEX][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12479390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13021248	0.98[ASN][1000 genomes]
rs6727958	0.80[CHD][hapmap]
rs6745913	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs72806509	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72806510	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561566	0.86[ASN][1000 genomes]
rs7567626	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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
rs7578781	SRBD1	cis	cerebellum	SCAN

Chromatin state (count:36 , 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	chr2:47116200-47121600	Weak transcription	Fetal Brain Male	brain
6	chr2:47116200-47127400	Weak transcription	Fetal Stomach	stomach
7	chr2:47116200-47128200	Weak transcription	HSMM	muscle
8	chr2:47116200-47128400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:47116200-47128400	Weak transcription	NH-A	brain
10	chr2:47116200-47133000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:47116600-47125200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:47116600-47128000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:47116600-47128200	Weak transcription	Fetal Thymus	thymus
14	chr2:47116600-47129600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:47116600-47129800	Weak transcription	Osteobl	bone
16	chr2:47116600-47131000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:47116600-47131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:47116600-47131800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:47116600-47132200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:47116600-47132400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:47116600-47132400	Weak transcription	NHEK	skin
22	chr2:47116800-47131000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:47117400-47133200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:47117800-47131200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:47119400-47123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:47119600-47140800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:47119800-47125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:47120000-47130800	Weak transcription	Left Ventricle	heart
29	chr2:47120000-47133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:47120400-47121400	Enhancers	K562	blood
31	chr2:47120600-47121200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:47120600-47121200	Enhancers	A549	lung
33	chr2:47120800-47133000	Weak transcription	Pancreas	Pancrea
34	chr2:47121000-47132200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:47121000-47132400	Weak transcription	Hela-S3	cervix
36	chr2:47121000-47132400	Weak transcription	NHDF-Ad	bronchial

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