Variant report

Variant	rs57814325
Chromosome Location	chr9:117879968-117879969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:117858058-117881674	U87	brain:	n/a	n/a
2	MXI1	chr9:117879558-117882145	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr9:117879382-117881533	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr9:117877891-117881556	U87	brain:	n/a	n/a
5	POLR2A	chr9:117877249-117881760	IMR90	lung:	n/a	n/a
6	POLR2A	chr9:117877221-117881586	U87	brain:	n/a	n/a
7	MXI1	chr9:117879960-117881786	IMR90	lung:	n/a	n/a
8	POLR2A	chr9:117879897-117881530	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr9:117879617-117880886	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr9:117879937-117880026	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr9:117863693-117881740	U87	brain:	n/a	n/a

Variant related genes	Relation type
TNC	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10817718	0.87[ASN][1000 genomes]
rs10982557	0.92[ASN][1000 genomes]
rs10982572	0.85[ASN][1000 genomes]
rs10982576	0.83[ASN][1000 genomes]
rs10982598	0.81[ASN][1000 genomes]
rs11794627	0.83[ASN][1000 genomes]
rs12376870	0.88[ASN][1000 genomes]
rs12380363	0.94[ASN][1000 genomes]
rs1360290	0.92[ASN][1000 genomes]
rs2001693	0.92[ASN][1000 genomes]
rs3748166	0.88[AFR][1000 genomes]
rs4448357	0.85[ASN][1000 genomes]
rs4979506	0.88[ASN][1000 genomes]
rs7025283	0.94[ASN][1000 genomes]
rs7029482	0.81[ASN][1000 genomes]
rs7029844	1.00[ASN][1000 genomes]
rs7850000	0.94[ASN][1000 genomes]
rs7865971	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893768	chr9:117853103-117903975	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117876400-117880200	Enhancers	Hela-S3	cervix
2	chr9:117877200-117881400	Active TSS	Fetal Kidney	kidney
3	chr9:117877600-117880200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr9:117877600-117881600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr9:117877800-117880000	Active TSS	Fetal Brain Female	brain
6	chr9:117878000-117880200	Active TSS	Stomach Smooth Muscle	stomach
7	chr9:117878000-117881600	Active TSS	Colon Smooth Muscle	Colon
8	chr9:117878200-117880200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:117878200-117880400	Active TSS	Rectal Smooth Muscle	rectum
10	chr9:117878200-117880800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:117878200-117881000	Active TSS	NHLF	lung
12	chr9:117878200-117881400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:117878200-117881600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr9:117878200-117881600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr9:117878400-117880000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:117878400-117880200	Active TSS	Brain Germinal Matrix	brain
17	chr9:117878400-117880600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:117878400-117881000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:117878600-117880000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:117878600-117880000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:117878600-117880200	Active TSS	Brain Anterior Caudate	brain
22	chr9:117878600-117880200	Bivalent/Poised TSS	Fetal Brain Male	brain
23	chr9:117878600-117880200	Active TSS	Fetal Muscle Trunk	muscle
24	chr9:117878600-117880400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:117878600-117880600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr9:117878600-117880600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr9:117878600-117881400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:117878600-117881400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:117878800-117880200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:117878800-117880200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr9:117878800-117880800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr9:117879000-117880000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:117879000-117880200	Active TSS	Right Ventricle	heart
34	chr9:117879000-117881400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr9:117879000-117881400	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr9:117879200-117880800	Active TSS	NHDF-Ad	bronchial
37	chr9:117879200-117881000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
38	chr9:117879200-117881000	Active TSS	Esophagus	oesophagus
39	chr9:117879400-117880000	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr9:117879400-117880200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr9:117879400-117880200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:117879400-117880200	Weak transcription	Aorta	Aorta
43	chr9:117879400-117880400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr9:117879400-117880800	Active TSS	NH-A	brain
45	chr9:117879600-117880000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr9:117879600-117880200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:117879600-117880200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:117879600-117880200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:117879600-117880200	Enhancers	HSMM	muscle
50	chr9:117879600-117880600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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