Variant report

Variant	rs7019448
Chromosome Location	chr9:18823505-18823506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2077707	0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs6475253	0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.81[LWK][hapmap];0.90[MKK][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7021465	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7026998	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7848883	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS 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	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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	9 gene(s)	inside rSNPs	diseases
4	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS 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	6 gene(s)	inside rSNPs	diseases
7	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18788000-18825200	Weak transcription	HUVEC	blood vessel
2	chr9:18800000-18824200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:18806400-18826000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:18806600-18824200	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:18807000-18824000	Weak transcription	Gastric	stomach
6	chr9:18814600-18824400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:18815400-18829200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:18817000-18823800	Strong transcription	Osteobl	bone
9	chr9:18817000-18824200	Strong transcription	NHDF-Ad	bronchial
10	chr9:18817000-18824400	Strong transcription	HSMM	muscle
11	chr9:18818000-18825000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:18818000-18845200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:18818200-18828800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:18818400-18825000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:18818600-18824400	Weak transcription	Aorta	Aorta
16	chr9:18819000-18824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:18819000-18825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:18819000-18825000	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:18819200-18825000	Weak transcription	HSMMtube	muscle
20	chr9:18821600-18825400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr9:18821800-18823800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:18822000-18826800	Enhancers	Fetal Heart	heart
23	chr9:18822200-18824200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:18822200-18825200	Weak transcription	NH-A	brain
25	chr9:18822400-18823600	Enhancers	Duodenum Mucosa	Duodenum
26	chr9:18822400-18823600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr9:18822600-18824200	Weak transcription	NHLF	lung
28	chr9:18822600-18824400	Weak transcription	Fetal Stomach	stomach
29	chr9:18822600-18825000	Weak transcription	HepG2	liver
30	chr9:18822600-18826000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:18822800-18824000	Weak transcription	Fetal Thymus	thymus
32	chr9:18822800-18826000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:18823000-18825400	Enhancers	Stomach Mucosa	stomach
34	chr9:18823000-18826400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:18823000-18834400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr9:18823200-18824400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr9:18823400-18823600	Enhancers	Esophagus	oesophagus
38	chr9:18823400-18824400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:18823400-18826600	Enhancers	Lung	lung

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