Variant report

Variant	rs28493183
Chromosome Location	chr9:96939087-96939088
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:96938945-96939235	K562	blood:	n/a	n/a
2	POLR2A	chr9:96935497-96946284	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:96938918-96939286	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:96938953-96939858	GM12891	blood:	n/a	n/a
5	POLR2A	chr9:96938897-96939910	GM12892	blood:	n/a	n/a
6	POLR2A	chr9:96938725-96940000	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr9:96938811-96939394	U87	brain:	n/a	n/a
8	POLR2A	chr9:96935486-96946923	K562	blood:	n/a	n/a
9	CEBPB	chr9:96938950-96939143	HepG2	liver:	n/a	n/a
10	POLR2A	chr9:96938825-96939923	SK-N-MC	brain:	n/a	n/a
11	E2F4	chr9:96938855-96939187	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr9:96939067-96939306	Hela-S3	cervix:	n/a	n/a
13	FOS	chr9:96938926-96939231	MCF10A-Er-Src	breast:	n/a	chr9:96939068-96939079
14	POLR2A	chr9:96938872-96939352	HL-60	blood:	n/a	n/a
15	POLR2A	chr9:96938905-96939299	MCF-7	breast:	n/a	n/a
16	POLR2A	chr9:96935500-96945447	A549	lung:	n/a	n/a
17	POLR2A	chr9:96938880-96939989	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr9:96938894-96940004	K562	blood:	n/a	n/a
19	POLR2A	chr9:96938917-96939962	GM12892	blood:	n/a	n/a
20	POLR2A	chr9:96938796-96940009	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:96938906-96939140	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr9:96938882-96939969	GM12891	blood:	n/a	n/a
23	FOXA2	chr9:96938889-96939121	HepG2	liver:	n/a	n/a
24	FOXA1	chr9:96938729-96939227	HepG2	liver:	n/a	n/a
25	POLR2A	chr9:96938944-96939542	PFSK-1	brain:	n/a	n/a
26	FOSL2	chr9:96938883-96939197	HepG2	liver:	n/a	n/a
27	FOS	chr9:96938909-96939245	MCF10A-Er-Src	breast:	n/a	chr9:96939068-96939079
28	POLR2A	chr9:96938823-96939987	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr9:96938963-96939318	GM12891	blood:	n/a	n/a
30	POLR2A	chr9:96938982-96939946	K562	blood:	n/a	n/a
31	JUN	chr9:96938943-96939186	HepG2	liver:	n/a	n/a
32	POLR2A	chr9:96939000-96945204	K562	blood:	n/a	n/a
33	FOXA1	chr9:96938828-96939199	HepG2	liver:	n/a	n/a
34	POLR2A	chr9:96938890-96940045	GM12892	blood:	n/a	n/a
35	POLR2A	chr9:96939045-96939163	MCF10A-Er-Src	breast:	n/a	n/a
36	JUND	chr9:96938963-96939243	HepG2	liver:	n/a	chr9:96939068-96939079
37	FOXA1	chr9:96938901-96939164	HepG2	liver:	n/a	n/a
38	WRNIP1	chr9:96938998-96939445	GM12878	blood:	n/a	n/a
39	FOS	chr9:96938775-96939279	HUVEC	blood vessel:	n/a	chr9:96939068-96939079
40	RCOR1	chr9:96939005-96939192	HepG2	liver:	n/a	n/a
41	POLR2A	chr9:96938916-96939791	K562	blood:	n/a	n/a
42	POLR2A	chr9:96937775-96940483	U87	brain:	n/a	n/a
43	POLR2A	chr9:96938950-96939898	GM12878	blood:	n/a	n/a
44	FOS	chr9:96938893-96939256	MCF10A-Er-Src	breast:	n/a	chr9:96939068-96939079
45	POLR2A	chr9:96938922-96939528	GM12891	blood:	n/a	n/a
46	POLR2A	chr9:96938859-96939949	GM12878	blood:	n/a	n/a
47	POLR2A	chr9:96939052-96939324	HepG2	liver:	n/a	n/a
48	POLR2A	chr9:96938849-96939929	GM12892	blood:	n/a	n/a
49	POLR2A	chr9:96938937-96939941	HepG2	liver:	n/a	n/a
50	POLR2A	chr9:96938907-96947131	GM12891	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96844456..96848566-chr9:96937566..96941042,3	K562	blood:
2	chr9:96791676..96794493-chr9:96936767..96941836,4	MCF-7	breast:
3	chr9:96790406..96793524-chr9:96937356..96939962,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM22F-1	chr9:96938884-96940013	ENSG00000230262
2	lnc-PTPDC1-7	chr9:96938785-96939872	NONHSAT133286
3	lnc-FAM22F-1	chr9:96938884-96940013	ENSG00000230262.2
4	lnc-PTPDC1-7	chr9:96938740-96940174	ENSG00000269929.1
5	lnc-FAM22F-1	chr9:96938852-96940013	NONHSAT133295
6	lnc-FAM22F-1	chr9:96938852-96940013	NONHSAT133296
7	lnc-FAM22F-1	chr9:96938884-96940013	ENSG00000230262.2

No data

Variant related genes	Relation type
MIRLET7D	TF binding region
ENSG00000158079	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10081759	1.00[EUR][1000 genomes]
rs10116369	1.00[EUR][1000 genomes]
rs10116630	1.00[EUR][1000 genomes]
rs10123498	1.00[EUR][1000 genomes]
rs12335636	1.00[EUR][1000 genomes]
rs12338528	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12341848	1.00[EUR][1000 genomes]
rs12345658	1.00[EUR][1000 genomes]
rs6479531	1.00[EUR][1000 genomes]
rs7036037	1.00[EUR][1000 genomes]
rs7046683	1.00[EUR][1000 genomes]
rs7851345	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3394266	chr9:96935210-97045514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	195 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96929800-96944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:96929800-96948400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:96930600-96943600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:96930600-96943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:96931400-96965600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:96933600-96939400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:96933600-96939800	Strong transcription	Hela-S3	cervix
8	chr9:96933800-96940400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:96934000-96941800	Strong transcription	Dnd41	blood
10	chr9:96934200-96939600	Enhancers	Brain Substantia Nigra	brain
11	chr9:96934200-96939800	Genic enhancers	Osteobl	bone
12	chr9:96934200-96941000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:96934400-96939800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:96934400-96942400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:96935000-96939600	Genic enhancers	HUVEC	blood vessel
16	chr9:96935000-96939800	Genic enhancers	A549	lung
17	chr9:96935200-96940600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:96935400-96939200	Genic enhancers	NH-A	brain
19	chr9:96935400-96939400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:96935400-96939600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:96935400-96940000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:96935400-96940000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:96935400-96942200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:96935400-96942400	Strong transcription	Fetal Thymus	thymus
25	chr9:96935600-96939200	Genic enhancers	Duodenum Mucosa	Duodenum
26	chr9:96935600-96939400	Genic enhancers	Liver	Liver
27	chr9:96935600-96942400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:96935600-96942400	Genic enhancers	HepG2	liver
29	chr9:96935800-96939200	Genic enhancers	HSMM	muscle
30	chr9:96935800-96939200	Genic enhancers	NHEK	skin
31	chr9:96935800-96940000	Strong transcription	K562	blood
32	chr9:96935800-96940400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:96935800-96940400	Weak transcription	Spleen	Spleen
34	chr9:96935800-96942400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:96936000-96939200	Genic enhancers	Rectal Mucosa Donor 29	rectum
36	chr9:96936000-96940200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr9:96936000-96940400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr9:96936000-96941800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr9:96936200-96939400	Genic enhancers	Rectal Mucosa Donor 31	rectum
40	chr9:96936600-96939400	Genic enhancers	HMEC	breast
41	chr9:96936600-96939600	Genic enhancers	Adipose Nuclei	Adipose
42	chr9:96936800-96945200	Weak transcription	Fetal Intestine Small	intestine
43	chr9:96937000-96940400	Weak transcription	Ovary	ovary
44	chr9:96937000-96942000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr9:96937000-96943400	Weak transcription	Aorta	Aorta
46	chr9:96937200-96943800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:96937200-96944800	Weak transcription	Fetal Heart	heart
48	chr9:96937200-96959400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:96937600-96939600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:96937600-96940400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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