Variant report

Variant	rs57113194
Chromosome Location	chr9:116929802-116929803
allele	C/T
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:0)
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	GATA2	chr9:116929627-116929840	SH-SY5Y	brain:	n/a	chr9:116929759-116929768 chr9:116929758-116929770 chr9:116929761-116929768
2	CTCF	chr9:116929720-116929870	Hela-S3	cervix:	n/a	chr9:116929816-116929826 chr9:116929811-116929829
3	POLR2A	chr9:116929645-116930382	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:116929797-116929847	MCF10A-Er-Src	breast:	n/a
2	chr9:116929797-116929847	LNCaP	prostate:	n/a
3	chr9:116929797-116929847	SK-N-SH	brain:	n/a
4	chr9:116929797-116929847	HMEC	breast:	n/a
5	chr9:116929797-116929847	RPTEC	kidney:	n/a
6	chr9:116929797-116929847	IMR90	lung:	fetal
7	chr9:116929797-116929847	AG04449	skin:	fetal
8	chr9:116929797-116929847	HRCEpiC	kidney:	n/a
9	chr9:116929797-116929847	HCM	heart:	n/a
10	chr9:116929797-116929847	HNPCEpiC	eye:	n/a
11	chr9:116929797-116929847	HRE	kidney:	n/a
12	chr9:116929797-116929847	HCF	heart:	n/a
13	chr9:116929797-116929847	SKMC	muscle:	n/a
14	chr9:116929797-116929847	AG04450	lung:	fetal
15	chr9:116929797-116929847	NHDF-neo	bronchial:	n/a
16	chr9:116929797-116929847	ProgFib	skin:	n/a
17	chr9:116929797-116929847	HEEpiC	esophagus:	n/a
18	chr9:116929797-116929847	HPAEpiC	pulmonary alveolar:	n/a
19	chr9:116929797-116929847	T-47D	breast:	n/a
20	chr9:116929797-116929847	SK-N-SH_RA	brain:	n/a
21	chr9:116929797-116929847	NHBE	bronchial:	n/a
22	chr9:116929797-116929847	Jurkat	blood:	n/a
23	chr9:116929797-116929847	HRPEpiC	eye:	n/a
24	chr9:116929797-116929847	NB4	blood:	n/a
25	chr9:116929797-116929847	GM12892	blood:	n/a
26	chr9:116929797-116929847	GM19239	blood:	n/a
27	chr9:116929797-116929847	Caco-2	colon:	n/a
28	chr9:116929797-116929847	ECC-1	luminal epithelium:	n/a
29	chr9:116929797-116929847	A549	lung:	n/a
30	chr9:116929797-116929847	HAEpiC	amniotic membrane:	n/a
31	chr9:116929797-116929847	HIPEpiC	eye:	n/a
32	chr9:116929797-116929847	HUVEC	blood vessel:	n/a
33	chr9:116929797-116929847	PrEC	prostate:	n/a
34	chr9:116929797-116929847	H1-hESC	embryonic stem cell:	embryo
35	chr9:116929797-116929847	PANC-1	pancreas:	n/a
36	chr9:116929797-116929847	SAEC	small airway:	n/a
37	chr9:116929797-116929847	NH-A	brain:	n/a
38	chr9:116929797-116929847	AG09319	gingival:	n/a
39	chr9:116929797-116929847	K562	blood:	n/a
40	chr9:116929797-116929847	HCPEpiC	choroid plexus:	n/a
41	chr9:116929797-116929847	HCT-116	colon:	n/a
42	chr9:116929797-116929847	HL-60	blood:	n/a
43	chr9:116929797-116929847	AG10803	skin:	n/a
44	chr9:116929797-116929847	BE2_C	brain:	n/a
45	chr9:116929797-116929847	PFSK-1	brain:	n/a
46	chr9:116929797-116929847	AG09309	skin:	n/a
47	chr9:116929797-116929847	CMK	blood:	n/a
48	chr9:116929797-116929847	BJ	skin:	n/a
49	chr9:116929797-116929847	Hepatocyte	liver:	n/a
50	chr9:116929797-116929847	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
COL27A1	TF binding region
COL27A1	CpG island

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1431821	0.96[ASN][1000 genomes]
rs1560538	0.81[ASN][1000 genomes]
rs16927020	0.86[AFR][1000 genomes]
rs1864723	0.93[ASN][1000 genomes]
rs1864724	0.98[ASN][1000 genomes]
rs2043196	0.84[ASN][1000 genomes]
rs2567706	0.85[ASN][1000 genomes]
rs2567722	0.84[ASN][1000 genomes]
rs2567724	0.84[ASN][1000 genomes]
rs2808770	0.81[ASN][1000 genomes]
rs2808771	0.81[ASN][1000 genomes]
rs2808774	0.81[ASN][1000 genomes]
rs2808775	0.81[ASN][1000 genomes]
rs2808784	0.83[ASN][1000 genomes]
rs2808790	0.83[ASN][1000 genomes]
rs2808795	0.98[ASN][1000 genomes]
rs2808796	0.98[ASN][1000 genomes]
rs2808797	0.98[ASN][1000 genomes]
rs4481685	0.84[ASN][1000 genomes]
rs59005455	0.90[AFR][1000 genomes]
rs59932831	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60380095	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73560580	0.90[AFR][1000 genomes]
rs891722	0.83[ASN][1000 genomes]
rs891727	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466527	chr9:116907448-116933449	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv615228	chr9:116907448-116933449	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv466529	chr9:116907553-116930194	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv615229	chr9:116907553-116930194	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv466530	chr9:116916931-116935660	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv615230	chr9:116916931-116935660	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv466531	chr9:116916931-116940418	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv615231	chr9:116916931-116940418	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3357134	chr9:116925431-116930729	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116919000-116936600	Weak transcription	Brain Hippocampus Middle	brain
2	chr9:116919000-116937600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:116919200-116972000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116919400-116930000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:116919600-116939600	Weak transcription	Hela-S3	cervix
6	chr9:116921800-116931600	Weak transcription	Aorta	Aorta
7	chr9:116925800-116931800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:116926000-116930000	Weak transcription	Esophagus	oesophagus
9	chr9:116926000-116931600	Weak transcription	Spleen	Spleen
10	chr9:116926000-116937200	Weak transcription	Gastric	stomach
11	chr9:116926200-116930000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:116926200-116930000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:116926200-116930400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:116926200-116934800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:116926200-116937400	Weak transcription	Right Ventricle	heart
16	chr9:116926200-116943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:116926400-116931000	Weak transcription	NH-A	brain
18	chr9:116926400-116931600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr9:116926400-116932000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:116926400-116934400	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:116926400-116935200	Weak transcription	Left Ventricle	heart
22	chr9:116926400-116935400	Weak transcription	Right Atrium	heart
23	chr9:116926400-116937000	Weak transcription	Stomach Mucosa	stomach
24	chr9:116926400-116950200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:116926400-116950400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:116926600-116930000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:116926600-116930400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:116926600-116932400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr9:116926600-116939400	Weak transcription	Fetal Kidney	kidney
30	chr9:116926800-116930000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:116926800-116930200	Weak transcription	Lung	lung
32	chr9:116926800-116930200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr9:116926800-116930400	Weak transcription	A549	lung
34	chr9:116926800-116930600	Weak transcription	Fetal Thymus	thymus
35	chr9:116926800-116934600	Weak transcription	HMEC	breast
36	chr9:116926800-116937000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr9:116927000-116931400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:116927000-116932400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr9:116927000-116933400	Strong transcription	HepG2	liver
40	chr9:116927200-116930000	Weak transcription	Adipose Nuclei	Adipose
41	chr9:116928200-116932400	Strong transcription	Fetal Intestine Large	intestine
42	chr9:116928400-116932800	Enhancers	NHDF-Ad	bronchial
43	chr9:116928600-116930000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:116928600-116930200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr9:116928800-116930000	Enhancers	Fetal Muscle Leg	muscle
46	chr9:116928800-116931000	Strong transcription	Fetal Intestine Small	intestine
47	chr9:116928800-116935600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr9:116929000-116930000	Weak transcription	Fetal Lung	lung
49	chr9:116929000-116931000	Strong transcription	Fetal Stomach	stomach
50	chr9:116929000-116932400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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