Variant report

Variant	rs73538886
Chromosome Location	chr9:116351967-116351968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:116351685-116352057	GM12892	blood:	n/a	n/a
2	POLR2A	chr9:116350704-116352462	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:116347586-116352527	K562	blood:	n/a	n/a
4	EP300	chr9:116351897-116351971	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:116351432-116352509	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr9:116350511-116352607	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:116351865-116352350	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:116351474-116352563	U87	brain:	n/a	n/a
9	POLR2A	chr9:116351518-116352608	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr9:116351642-116352220	GM12891	blood:	n/a	n/a
11	POLR2A	chr9:116351683-116352066	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr9:116350195-116352328	GM12878	blood:	n/a	n/a
13	SMC3	chr9:116351747-116352642	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr9:116351960-116352110	K562	blood:	n/a	n/a
15	POLR2A	chr9:116351448-116352138	HUVEC	blood vessel:	n/a	n/a
16	EBF1	chr9:116351632-116352008	GM12878	blood:	n/a	chr9:116351670-116351681
17	POLR2A	chr9:116351861-116352065	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:116351701-116352131	GM12878	blood:	n/a	n/a
19	MAZ	chr9:116351847-116351989	GM12878	blood:	n/a	n/a
20	STAT3	chr9:116351953-116352435	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr9:116350972-116352427	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr9:116351480-116352563	U87	brain:	n/a	n/a
23	MYC	chr9:116351893-116352026	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr9:116351669-116352118	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:116344266..116346925-chr9:116348617..116352466,4	K562	blood:
2	chr9:116171876..116174337-chr9:116351480..116354219,2	MCF-7	breast:
3	chr9:116171469..116174533-chr9:116350690..116354091,5	MCF-7	breast:

No data

Variant related genes	Relation type
RGS3	TF binding region
ENSG00000157653	Chromatin interaction
ENSG00000138835	Chromatin interaction
ENSG00000148229	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16906786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61187134	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116338200-116353600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr9:116340200-116355400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:116341600-116355800	Weak transcription	Fetal Brain Female	brain
4	chr9:116341800-116353600	Weak transcription	A549	lung
5	chr9:116342000-116355400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:116342200-116352200	Weak transcription	Fetal Kidney	kidney
7	chr9:116343200-116358800	Weak transcription	Hela-S3	cervix
8	chr9:116344800-116352400	Genic enhancers	Primary monocytes fromperipheralblood	blood
9	chr9:116344800-116352600	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr9:116344800-116353800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:116344800-116355400	Weak transcription	Small Intestine	intestine
12	chr9:116345600-116352200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
13	chr9:116346400-116355200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:116346600-116356800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:116346800-116353800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:116346800-116355800	Weak transcription	Brain Germinal Matrix	brain
17	chr9:116346800-116356000	Weak transcription	Ovary	ovary
18	chr9:116347000-116353400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:116347000-116353600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:116347200-116355800	Weak transcription	HSMMtube	muscle
21	chr9:116347400-116353600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:116347800-116352000	Weak transcription	NHLF	lung
23	chr9:116348000-116353800	Weak transcription	Liver	Liver
24	chr9:116348000-116353800	Weak transcription	Fetal Lung	lung
25	chr9:116348000-116361600	Weak transcription	Dnd41	blood
26	chr9:116348200-116353000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:116348200-116354000	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:116348200-116354200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr9:116348200-116356400	Weak transcription	Aorta	Aorta
30	chr9:116348400-116355600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:116348600-116353800	Weak transcription	HepG2	liver
32	chr9:116348600-116355600	Weak transcription	HMEC	breast
33	chr9:116348600-116355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:116348800-116352600	Enhancers	Fetal Muscle Leg	muscle
35	chr9:116348800-116353800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr9:116349000-116353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:116349000-116355800	Enhancers	Adipose Nuclei	Adipose
38	chr9:116349000-116355800	Weak transcription	Fetal Intestine Large	intestine
39	chr9:116349200-116352000	Enhancers	HUVEC	blood vessel
40	chr9:116349200-116353800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:116349400-116353200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:116349400-116353800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:116349600-116355600	Weak transcription	Osteobl	bone
44	chr9:116349800-116353800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr9:116349800-116354200	Weak transcription	Brain Angular Gyrus	brain
46	chr9:116350000-116353600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr9:116350000-116353600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr9:116350000-116353600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr9:116350000-116353800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr9:116350000-116353800	Weak transcription	Brain Inferior Temporal Lobe	brain

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