Variant report

Variant	rs4329328
Chromosome Location	chr9:95995428-95995429
allele	C/T
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	FOXM1	chr9:95994681-95995452	ECC-1	luminal epithelium:	n/a	n/a
2	MAFK	chr9:95995338-95995664	HepG2	liver:	n/a	n/a
3	MAFK	chr9:95995361-95995604	HepG2	liver:	n/a	n/a
4	MAFK	chr9:95995356-95995647	IMR90	lung:	n/a	n/a
5	MAFK	chr9:95995353-95995541	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFF	chr9:95995377-95995597	K562	blood:	n/a	n/a
7	EP300	chr9:95994618-95995468	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr9:95994486-95995475	ECC-1	luminal epithelium:	n/a	chr9:95995001-95995008
9	MAFF	chr9:95995372-95995597	HepG2	liver:	n/a	n/a
10	TCF12	chr9:95994772-95995441	ECC-1	luminal epithelium:	n/a	chr9:95995001-95995008

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95993583..95995439-chr9:95997660..95999567,2	MCF-7	breast:

Variant related genes	Relation type
WNK2	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10992681	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1107614	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1107615	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11787888	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11793893	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12000967	0.81[EUR][1000 genomes]
rs12001073	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13287544	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13290796	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13301530	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34085543	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34834050	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35199621	0.81[EUR][1000 genomes]
rs35438673	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7019910	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7022051	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7046965	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7855391	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7857220	0.81[EUR][1000 genomes]
rs7867954	0.81[EUR][1000 genomes]
rs7873162	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7874101	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription 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	25 gene(s)	inside rSNPs	diseases
4	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95984800-95998000	Enhancers	Pancreas	Pancrea
2	chr9:95986200-96006800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:95987200-95996800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:95987200-95997200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:95987200-96000200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:95987400-96001000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:95987400-96005200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:95988200-96006800	Weak transcription	Esophagus	oesophagus
9	chr9:95988400-95999800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:95988600-95997200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:95992200-95999800	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:95993600-95997600	Weak transcription	Fetal Lung	lung
13	chr9:95993600-96005000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:95993800-95997400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:95993800-96001800	Weak transcription	Spleen	Spleen
16	chr9:95994000-95996400	Weak transcription	Placenta	Placenta
17	chr9:95994000-95997200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:95994000-95997400	Weak transcription	Fetal Heart	heart
19	chr9:95994000-96001000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:95994200-95996800	Weak transcription	Right Ventricle	heart
21	chr9:95994200-95997200	Weak transcription	Brain Anterior Caudate	brain
22	chr9:95994400-95996400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:95994400-95997200	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:95994600-95996400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:95994600-95997400	Weak transcription	Brain Substantia Nigra	brain
26	chr9:95994600-95997600	Weak transcription	Gastric	stomach
27	chr9:95994800-95996800	Weak transcription	Brain Germinal Matrix	brain
28	chr9:95994800-95997000	Weak transcription	Brain Angular Gyrus	brain
29	chr9:95994800-95997000	Weak transcription	HepG2	liver
30	chr9:95994800-95997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:95995000-95996200	Weak transcription	Fetal Brain Female	brain
32	chr9:95995000-95996200	Weak transcription	Fetal Stomach	stomach
33	chr9:95995000-95996200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:95995000-95996400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr9:95995000-95996600	Weak transcription	Left Ventricle	heart
36	chr9:95995000-95996800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:95995000-95996800	Weak transcription	Colonic Mucosa	Colon
38	chr9:95995200-95996200	Weak transcription	Fetal Intestine Large	intestine
39	chr9:95995200-95996200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr9:95995200-95996200	Weak transcription	Stomach Mucosa	stomach
41	chr9:95995200-95996400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr9:95995200-95996600	Weak transcription	Psoas Muscle	Psoas
43	chr9:95995200-95997400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:95995200-96000600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr9:95995200-96026400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:95995400-95996400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr9:95995400-95997800	Strong transcription	Fetal Intestine Small	intestine

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