Variant report

Variant	rs4313669
Chromosome Location	chr9:18824042-18824043
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:18823974-18824653	SK-N-SH	brain:	n/a	n/a
2	HNF4A	chr9:18823985-18824393	HepG2	liver:	n/a	chr9:18824213-18824226 chr9:18824214-18824226 chr9:18824212-18824227 chr9:18824213-18824227 chr9:18824211-18824229 chr9:18824213-18824228 chr9:18824213-18824227 chr9:18824213-18824228 chr9:18824213-18824228 chr9:18824213-18824228 chr9:18824209-18824231 chr9:18824214-18824227 chr9:18824213-18824226 chr9:18824219-18824227 chr9:18824214-18824226
3	RAD21	chr9:18824002-18824506	A549	lung:	n/a	n/a
4	CTCF	chr9:18824027-18824461	MCF-7	breast:	n/a	n/a
5	RAD21	chr9:18824041-18824424	MCF-7	breast:	n/a	n/a
6	RAD21	chr9:18824008-18824502	HCT-116	colon:	n/a	n/a
7	RAD21	chr9:18823883-18824670	SK-N-SH	brain:	n/a	chr9:18824622-18824629
8	RAD21	chr9:18824013-18824483	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr9:18823876-18824651	A549	lung:	n/a	n/a
10	RAD21	chr9:18824036-18824557	HCT-116	colon:	n/a	n/a
11	HNF4G	chr9:18823970-18824489	HepG2	liver:	n/a	chr9:18824213-18824226 chr9:18824214-18824226 chr9:18824213-18824227 chr9:18824211-18824229 chr9:18824213-18824228 chr9:18824213-18824227 chr9:18824213-18824228 chr9:18824213-18824228 chr9:18824211-18824226 chr9:18824213-18824228 chr9:18824209-18824231 chr9:18824214-18824227 chr9:18824213-18824226 chr9:18824219-18824227 chr9:18824214-18824226
12	RAD21	chr9:18823974-18824508	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr9:18824022-18824467	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18255104..18255666-chr9:18823787..18824360,2	MCF-7	breast:
2	chr9:18254775..18255482-chr9:18823832..18824683,3	MCF-7	breast:

Variant related genes	Relation type
ADAMTSL1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10811046	0.81[ASN][1000 genomes]
rs11795248	0.89[ASN][1000 genomes]
rs11999522	0.92[ASN][1000 genomes]
rs16937127	0.98[ASN][1000 genomes]
rs4497057	0.94[ASN][1000 genomes]
rs56160805	0.94[ASN][1000 genomes]
rs56325857	0.92[ASN][1000 genomes]
rs58686714	0.99[ASN][1000 genomes]
rs62549130	1.00[ASN][1000 genomes]
rs62549134	0.91[ASN][1000 genomes]
rs62549135	0.91[ASN][1000 genomes]
rs62549136	0.82[ASN][1000 genomes]
rs7852764	0.94[ASN][1000 genomes]
rs7871789	1.00[ASN][1000 genomes]
rs9695755	0.92[ASN][1000 genomes]
rs9696796	0.94[ASN][1000 genomes]
rs9696918	0.92[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:41 , 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	chr9:18814600-18824400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr9:18815400-18829200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr9:18817000-18824200	Strong transcription	NHDF-Ad	bronchial
8	chr9:18817000-18824400	Strong transcription	HSMM	muscle
9	chr9:18818000-18825000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:18818000-18845200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:18818200-18828800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:18818400-18825000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr9:18818600-18824400	Weak transcription	Aorta	Aorta
14	chr9:18819000-18824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:18819000-18825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:18819000-18825000	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:18819200-18825000	Weak transcription	HSMMtube	muscle
18	chr9:18821600-18825400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr9:18822000-18826800	Enhancers	Fetal Heart	heart
20	chr9:18822200-18824200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:18822200-18825200	Weak transcription	NH-A	brain
22	chr9:18822600-18824200	Weak transcription	NHLF	lung
23	chr9:18822600-18824400	Weak transcription	Fetal Stomach	stomach
24	chr9:18822600-18825000	Weak transcription	HepG2	liver
25	chr9:18822600-18826000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:18822800-18826000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:18823000-18825400	Enhancers	Stomach Mucosa	stomach
28	chr9:18823000-18826400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:18823000-18834400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr9:18823200-18824400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:18823400-18824400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:18823400-18826600	Enhancers	Lung	lung
33	chr9:18823600-18824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr9:18823600-18824800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr9:18823600-18825200	Enhancers	Pancreas	Pancrea
36	chr9:18823800-18824200	Weak transcription	Osteobl	bone
37	chr9:18824000-18825000	Weak transcription	Esophagus	oesophagus
38	chr9:18824000-18825200	Enhancers	Gastric	stomach
39	chr9:18824000-18826200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:18824000-18827400	Enhancers	Primary T cells from cord blood	blood
41	chr9:18824000-18827800	Enhancers	Fetal Thymus	thymus

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