Variant report

Variant	rs532280601
Chromosome Location	chr9:14847304-14847305
allele	A/T
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	CTCF	chr9:14846631-14847328	SK-N-SH	brain:	n/a	chr9:14846948-14846966 chr9:14846953-14846961 chr9:14846950-14846963 chr9:14846997-14847006 chr9:14846949-14846965 chr9:14846943-14846964
2	CTCF	chr9:14847200-14847350	HEK293	kidney:	n/a	n/a
3	FOXP2	chr9:14846837-14847361	SK-N-MC	brain:	n/a	n/a
4	CTCF	chr9:14847160-14847310	HCT-116	colon:	n/a	n/a
5	POLR2A	chr9:14846737-14847552	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr9:14846694-14847464	SK-N-MC	brain:	n/a	n/a
7	CTCF	chr9:14847212-14847311	GM20000	blood:	n/a	n/a
8	CTCF	chr9:14847180-14847330	AG04449	skin:	n/a	n/a
9	CTCF	chr9:14846554-14847343	A549	lung:	n/a	chr9:14846948-14846966 chr9:14846953-14846961 chr9:14846950-14846963 chr9:14846997-14847006 chr9:14846949-14846965 chr9:14846943-14846964
10	RAD21	chr9:14846688-14847413	SK-N-SH	brain:	n/a	chr9:14846948-14846960 chr9:14846956-14846963 chr9:14846946-14846965 chr9:14846952-14846961
11	RAD21	chr9:14846780-14847365	SK-N-SH_RA	brain:	n/a	chr9:14846948-14846960 chr9:14846956-14846963 chr9:14846946-14846965 chr9:14846952-14846961
12	ELF1	chr9:14846654-14847343	HCT-116	colon:	n/a	chr9:14847005-14847018
13	EP300	chr9:14846817-14847337	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr9:14847245-14847309	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr9:14846491-14847385	HepG2	liver:	n/a	n/a
16	EP300	chr9:14846616-14847600	SK-N-SH	brain:	n/a	chr9:14846710-14846718
17	EP300	chr9:14846772-14847402	SK-N-SH_RA	brain:	n/a	n/a
18	SMC3	chr9:14846654-14847410	SK-N-SH	brain:	n/a	chr9:14846950-14846964

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14842932..14845441-chr9:14846633..14848951,2	K562	blood:

Variant related genes	Relation type
RNU6-1260P	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS 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
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv831518	chr9:14760638-14953501	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1030626	chr9:14786215-14853681	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv540071	chr9:14786215-14853681	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv892617	chr9:14791348-14889834	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv613646	chr9:14800779-14852141	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1031440	chr9:14805107-14859190	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv540072	chr9:14805107-14859190	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv892619	chr9:14821819-14866389	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1018416	chr9:14846753-14921247	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14779800-14853200	Weak transcription	Placenta	Placenta
2	chr9:14801800-14857200	Strong transcription	HepG2	liver
3	chr9:14807400-14868600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:14809200-14847600	Weak transcription	Fetal Intestine Small	intestine
5	chr9:14810400-14849600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:14823400-14848400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:14824000-14852800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:14826000-14849600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:14833400-14860600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:14838600-14854000	Strong transcription	Fetal Kidney	kidney
11	chr9:14840600-14851400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:14842000-14847400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr9:14842200-14852400	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:14842800-14848400	Weak transcription	Aorta	Aorta
15	chr9:14843200-14848000	Weak transcription	Adipose Nuclei	Adipose
16	chr9:14843400-14850600	Weak transcription	Fetal Stomach	stomach
17	chr9:14843400-14851000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:14843400-14868800	Weak transcription	Pancreas	Pancrea
19	chr9:14844400-14853000	Strong transcription	Fetal Muscle Leg	muscle
20	chr9:14845000-14849800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:14846000-14848000	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:14846200-14850200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:14846200-14850800	Weak transcription	Fetal Intestine Large	intestine
24	chr9:14846800-14849200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:14846800-14850600	Genic enhancers	Fetal Lung	lung

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