Variant report

Variant	rs10992070
Chromosome Location	chr9:94493470-94493471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94493263..94495550-chr9:94497375..94499893,2	K562	blood:
2	chr9:94492241..94494566-chr9:94710978..94712504,2	K562	blood:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10992066	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992069	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992073	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72744455	0.93[AMR][1000 genomes];0.99[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	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv6612	chr9:94490644-94535738	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10992070	SYK	cis	cerebellum	SCAN
rs10992070	SUSD3	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94477200-94496800	Weak transcription	NHLF	lung
2	chr9:94477200-94533000	Weak transcription	Fetal Kidney	kidney
3	chr9:94483000-94496600	Strong transcription	Fetal Stomach	stomach
4	chr9:94483400-94501600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:94483600-94504000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:94483600-94519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:94485800-94498400	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:94486200-94521000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:94486800-94496800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:94486800-94517400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:94487000-94496600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:94487000-94502200	Weak transcription	Esophagus	oesophagus
13	chr9:94487000-94535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:94487200-94496800	Weak transcription	Spleen	Spleen
15	chr9:94487200-94497000	Weak transcription	Colonic Mucosa	Colon
16	chr9:94487600-94493800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:94487600-94496600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr9:94488200-94496600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:94489000-94508800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:94490000-94495000	Strong transcription	Fetal Lung	lung
21	chr9:94490200-94496400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:94490200-94496400	Weak transcription	Pancreas	Pancrea
23	chr9:94490200-94497400	Strong transcription	Fetal Intestine Small	intestine
24	chr9:94490400-94521000	Weak transcription	Right Atrium	heart
25	chr9:94491000-94495600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:94491200-94496400	Weak transcription	K562	blood
27	chr9:94491600-94501000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:94492000-94496800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:94492200-94495600	Strong transcription	Colon Smooth Muscle	Colon
30	chr9:94492200-94496400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr9:94492200-94496600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:94492200-94496800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:94492200-94496800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:94492200-94496800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:94492200-94496800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:94492200-94496800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr9:94492400-94495600	Strong transcription	Ovary	ovary
38	chr9:94492800-94494200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr9:94493000-94495000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:94493000-94495600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:94493000-94495600	Strong transcription	Gastric	stomach
42	chr9:94493200-94497600	Strong transcription	Fetal Intestine Large	intestine
43	chr9:94493200-94517400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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