Variant report

Variant	rs9811858
Chromosome Location	chr3:158443093-158443094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:158433592..158436389-chr3:158442916..158446023,3	MCF-7	breast:
2	chr3:158381941..158384524-chr3:158442570..158444984,2	MCF-7	breast:
3	chr3:158442597..158443309-chr3:158507091..158507979,2	K562	blood:
4	chr3:158441387..158443245-chr3:158448220..158450218,2	K562	blood:
5	chr3:158435356..158438260-chr3:158440779..158443696,3	MCF-7	breast:
6	chr3:158361077..158363871-chr3:158442170..158444537,2	MCF-7	breast:
7	chr3:158440212..158445123-chr3:158504371..158509203,7	MCF-7	breast:
8	chr3:158439811..158443418-chr3:158489187..158492099,4	MCF-7	breast:
9	chr3:158442646..158445031-chr3:158506699..158509425,2	MCF-7	breast:
10	chr3:158440854..158443231-chr3:158457922..158462150,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168827	Chromatin interaction
ENSG00000240207	Chromatin interaction
ENSG00000118855	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1548013	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3755746	0.92[ASN][1000 genomes]
rs4680458	0.80[ASN][1000 genomes]
rs4680461	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4680463	0.86[ASN][1000 genomes]
rs4680466	0.92[ASN][1000 genomes]
rs61461024	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73158358	0.92[ASN][1000 genomes]
rs7429899	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7616425	0.81[ASN][1000 genomes]
rs7617706	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7620380	0.96[ASN][1000 genomes]
rs9290028	0.90[ASN][1000 genomes]
rs9810241	0.92[ASN][1000 genomes]
rs9825140	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9849301	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857480	0.95[ASN][1000 genomes]
rs9861289	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS 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 target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9811858	RP11-538P18.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158390800-158444200	Weak transcription	Gastric	stomach
2	chr3:158390800-158445400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:158397000-158443400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:158397000-158448000	Weak transcription	Thymus	Thymus
5	chr3:158399600-158445400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:158424200-158446000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:158429600-158449000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:158431000-158444200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:158431000-158445400	Weak transcription	GM12878-XiMat	blood
10	chr3:158431000-158449200	Weak transcription	Brain Germinal Matrix	brain
11	chr3:158431200-158445400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:158431200-158445800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:158431400-158445400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:158431400-158445400	Weak transcription	Dnd41	blood
15	chr3:158432000-158445400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:158432000-158445400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:158432200-158444800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:158432200-158445400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:158432200-158445800	Weak transcription	Brain Substantia Nigra	brain
20	chr3:158432200-158449200	Weak transcription	Pancreas	Pancrea
21	chr3:158435000-158443400	Weak transcription	NHEK	skin
22	chr3:158435000-158449200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:158435200-158443400	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:158439200-158449200	Weak transcription	Fetal Brain Female	brain
25	chr3:158439600-158445400	Weak transcription	Fetal Kidney	kidney
26	chr3:158439800-158444600	Enhancers	Fetal Intestine Large	intestine
27	chr3:158439800-158445200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:158440000-158444800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:158440200-158445800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:158440200-158445800	Weak transcription	Brain Anterior Caudate	brain
31	chr3:158440200-158446000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr3:158440600-158444400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:158440600-158445000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:158440600-158445400	Enhancers	NHLF	lung
35	chr3:158440600-158446000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:158440600-158446400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:158440800-158444200	Enhancers	Colon Smooth Muscle	Colon
38	chr3:158440800-158446200	Enhancers	NHDF-Ad	bronchial
39	chr3:158440800-158446800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr3:158441000-158446000	Weak transcription	Fetal Brain Male	brain
41	chr3:158441000-158449200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:158441000-158449200	Weak transcription	Esophagus	oesophagus
43	chr3:158441200-158444400	Enhancers	Duodenum Mucosa	Duodenum
44	chr3:158441200-158445400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:158441200-158445800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr3:158441200-158445800	Genic enhancers	Fetal Intestine Small	intestine
47	chr3:158441200-158445800	Enhancers	Osteobl	bone
48	chr3:158441200-158446000	Enhancers	NH-A	brain
49	chr3:158441400-158445200	Weak transcription	Primary B cells from cord blood	blood
50	chr3:158441400-158445200	Weak transcription	Monocytes-CD14+_RO01746	blood

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