Variant report

Variant	rs73658715
Chromosome Location	chr9:103115856-103115857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr9:103112680-103116753	SK-N-SH	brain:	n/a	n/a
2	KAP1	chr9:103114772-103115895	HEK293	kidney:	n/a	n/a
3	GATA2	chr9:103114550-103116157	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr9:103114192-103116453	GM12891	blood:	n/a	n/a
5	IRF1	chr9:103115000-103115859	K562	blood:	n/a	chr9:103115303-103115317
6	POLR2A	chr9:103114488-103115879	NB4	blood:	n/a	n/a
7	POLR2A	chr9:103114565-103116023	GM19099	blood:	n/a	n/a
8	POLR2A	chr9:103114175-103116583	H1-hESC	embryonic stem cell:	n/a	n/a
9	GABPA	chr9:103114749-103115873	MCF-7	breast:	n/a	chr9:103115307-103115316 chr9:103114957-103114966
10	POLR2A	chr9:103113860-103116202	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr9:103114501-103116255	Raji	blood:	n/a	n/a
12	POLR2A	chr9:103114354-103116279	K562	blood:	n/a	n/a
13	POLR2A	chr9:103114521-103116598	HepG2	liver:	n/a	n/a
14	HCFC1	chr9:103113996-103116234	Hela-S3	cervix:	n/a	n/a
15	GATA3	chr9:103115353-103116010	SH-SY5Y	brain:	n/a	n/a
16	TBL1XR1	chr9:103115013-103115948	K562	blood:	n/a	n/a
17	EP300	chr9:103115089-103115925	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:103114531-103116094	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:30948635..30949371-chr9:103115049..103115906,2	HCT-116	colon:
2	chr9:103108889..103112022-chr9:103112659..103116565,8	MCF-7	breast:
3	chr9:103112743..103119519-chr9:103186928..103191502,9	MCF-7	breast:
4	chr9:103112020..103116853-chr9:103187928..103193300,12	MCF-7	breast:
5	chr9:103113279..103116752-chr9:103187119..103190910,6	K562	blood:
6	chr9:103112440..103115986-chr9:103202100..103206037,4	K562	blood:
7	chr9:103113751..103117482-chr9:103187755..103190910,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf30-1	chr9:103115261-103115863	NONHSAT133714

No data

Variant related genes	Relation type
TEX10	TF binding region
ENSG00000235884	Chromatin interaction
ENSG00000066697	Chromatin interaction
ENSG00000251349	Chromatin interaction
ENSG00000241697	Chromatin interaction
ENSG00000136891	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10989031	1.00[AMR][1000 genomes]
rs28460607	1.00[AMR][1000 genomes]
rs58400222	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60431094	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60958178	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61603896	1.00[AMR][1000 genomes]
rs6479012	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7045931	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73655140	0.80[AFR][1000 genomes]
rs73655141	0.92[AFR][1000 genomes]
rs73658711	0.92[AFR][1000 genomes]
rs73658713	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73658714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73658716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73658717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103112400-103116000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr9:103112600-103116000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr9:103112800-103116000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr9:103112800-103116000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:103113200-103116000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:103113200-103116000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:103113400-103116000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:103113400-103116000	Active TSS	NHDF-Ad	bronchial
9	chr9:103113400-103116400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr9:103113400-103116800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:103113600-103116000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr9:103113600-103116000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr9:103113600-103116200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:103113600-103116400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:103113800-103116000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:103113800-103116000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:103113800-103116000	Active TSS	Right Ventricle	heart
18	chr9:103113800-103116200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:103114000-103116000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr9:103114000-103116200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:103114200-103116000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:103114200-103116200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:103114200-103116200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr9:103114400-103116000	Active TSS	Brain Germinal Matrix	brain
25	chr9:103114400-103116600	Active TSS	Fetal Lung	lung
26	chr9:103115400-103116000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:103115400-103116000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr9:103115400-103116000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr9:103115400-103116000	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr9:103115400-103116000	Flanking Active TSS	HMEC	breast
31	chr9:103115400-103116000	Flanking Active TSS	NHEK	skin
32	chr9:103115400-103116200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr9:103115400-103116200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr9:103115400-103116200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr9:103115400-103116400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:103115400-103116400	Flanking Active TSS	Dnd41	blood
37	chr9:103115400-103116600	Flanking Active TSS	HepG2	liver
38	chr9:103115600-103116000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr9:103115600-103116000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr9:103115600-103116000	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr9:103115600-103116000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr9:103115600-103116000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr9:103115600-103116200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr9:103115600-103116200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr9:103115600-103116200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr9:103115600-103116200	Enhancers	Primary B cells from peripheral blood	blood
47	chr9:103115600-103116200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr9:103115600-103116200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:103115600-103116200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr9:103115600-103116200	Flanking Active TSS	K562	blood

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