Variant report

Variant	rs72713166
Chromosome Location	chr9:71939199-71939200
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr9:71939130-71939630	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr9:71939176-71940373	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr9:71939189-71940270	H1-hESC	embryonic stem cell:	n/a	chr9:71939929-71939940 chr9:71940063-71940073

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:71939182-71939232	HUVEC	blood vessel:	n/a
2	chr9:71939182-71939232	NH-A	brain:	n/a
3	chr9:71939182-71939232	A549	lung:	n/a
4	chr9:71939182-71939232	HCPEpiC	choroid plexus:	n/a
5	chr9:71939182-71939232	Hela-S3	cervix:	n/a
6	chr9:71939182-71939232	Hepatocyte	liver:	n/a
7	chr9:71939182-71939232	HCT-116	colon:	n/a
8	chr9:71939182-71939232	PrEC	prostate:	n/a
9	chr9:71939182-71939232	HAEpiC	amniotic membrane:	n/a
10	chr9:71939182-71939232	Jurkat	blood:	n/a
11	chr9:71939182-71939232	GM06990	blood:	n/a
12	chr9:71939182-71939232	LNCaP	prostate:	n/a
13	chr9:71939182-71939232	HMEC	breast:	n/a
14	chr9:71939182-71939232	HEEpiC	esophagus:	n/a
15	chr9:71939182-71939232	MCF10A-Er-Src	breast:	n/a
16	chr9:71939182-71939232	HNPCEpiC	eye:	n/a
17	chr9:71939182-71939232	SK-N-MC	brain:	n/a
18	chr9:71939182-71939232	NT2-D1	testis:	n/a
19	chr9:71939182-71939232	ECC-1	luminal epithelium:	n/a
20	chr9:71939182-71939232	AG09319	gingival:	n/a
21	chr9:71939182-71939232	GM12892	blood:	n/a
22	chr9:71939182-71939232	IMR90	lung:	fetal
23	chr9:71939182-71939232	HRE	kidney:	n/a
24	chr9:71939182-71939232	RPTEC	kidney:	n/a
25	chr9:71939182-71939232	AoSMC	blood vessel:	n/a
26	chr9:71939182-71939232	HPAEpiC	pulmonary alveolar:	n/a
27	chr9:71939182-71939232	K562	blood:	n/a
28	chr9:71939182-71939232	GM12878	blood:	n/a
29	chr9:71939182-71939232	GM12891	blood:	n/a
30	chr9:71939182-71939232	BE2_C	brain:	n/a
31	chr9:71939182-71939232	HL-60	blood:	n/a
32	chr9:71939182-71939232	BJ	skin:	n/a
33	chr9:71939182-71939232	U87	brain:	n/a
34	chr9:71939182-71939232	HCM	heart:	n/a
35	chr9:71939182-71939232	SK-N-SH_RA	brain:	n/a
36	chr9:71939182-71939232	SAEC	small airway:	n/a
37	chr9:71939182-71939232	T-47D	breast:	n/a
38	chr9:71939182-71939232	HRCEpiC	kidney:	n/a
39	chr9:71939182-71939232	AG04450	lung:	fetal
40	chr9:71939182-71939232	HepG2	liver:	n/a
41	chr9:71939182-71939232	H1-hESC	embryonic stem cell:	embryo
42	chr9:71939182-71939232	MCF-7	breast:	n/a
43	chr9:71939182-71939232	PANC-1	pancreas:	n/a
44	chr9:71939182-71939232	NHDF-neo	bronchial:	n/a
45	chr9:71939182-71939232	AG10803	skin:	n/a
46	chr9:71939182-71939232	Caco-2	colon:	n/a
47	chr9:71939182-71939232	HEK293	kidney:	embryo
48	chr9:71939182-71939232	PFSK-1	brain:	n/a
49	chr9:71939182-71939232	CMK	blood:	n/a
50	chr9:71939182-71939232	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71937269..71941011-chr9:72000572..72004392,4	MCF-7	breast:
2	chr9:71938510..71941284-chr9:71942079..71947019,4	MCF-7	breast:

No data

Variant related genes	Relation type
FAM189A2	TF binding region
FAM189A2	CpG island
ENSG00000135063	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7041728	0.90[ASN][1000 genomes]
rs72713187	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];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	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3374800	chr9:71939157-71942005	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71934800-71939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:71935600-71939200	Weak transcription	Brain Hippocampus Middle	brain
3	chr9:71935800-71939400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:71935800-71939400	Weak transcription	Brain Angular Gyrus	brain
5	chr9:71937600-71942800	Active TSS	Fetal Heart	heart
6	chr9:71937800-71939400	Weak transcription	Hela-S3	cervix
7	chr9:71938000-71939200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:71938000-71939400	Weak transcription	Pancreas	Pancrea
9	chr9:71938200-71939200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:71938800-71939200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr9:71938800-71939200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr9:71938800-71939200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr9:71938800-71939200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr9:71938800-71939400	Active TSS	Brain Cingulate Gyrus	brain
15	chr9:71938800-71939400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr9:71938800-71940800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr9:71938800-71940800	Active TSS	Brain Substantia Nigra	brain
18	chr9:71938800-71941400	Active TSS	Brain Anterior Caudate	brain
19	chr9:71938800-71942800	Active TSS	Right Atrium	heart
20	chr9:71939000-71939200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr9:71939000-71939200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
22	chr9:71939000-71939200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr9:71939000-71939200	Enhancers	Rectal Smooth Muscle	rectum
24	chr9:71939000-71939400	Bivalent/Poised TSS	Fetal Stomach	stomach
25	chr9:71939000-71940600	Bivalent/Poised TSS	Fetal Lung	lung
26	chr9:71939000-71940800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr9:71939000-71941000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr9:71939000-71941000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr9:71939000-71941200	Active TSS	Ovary	ovary
30	chr9:71939000-71941400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr9:71939000-71942800	Active TSS	Stomach Smooth Muscle	stomach

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