Variant report

Variant	esv3415028
Chromosome Location	chr9:117026522-117026684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:117026560-117026710	HEK293	kidney:	n/a	n/a
2	CTCF	chr9:117026480-117026630	HMF	breast:	n/a	n/a
3	CTCF	chr9:117026480-117026630	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr9:117026438-117026762	IMR90	lung:	n/a	n/a
5	CTCF	chr9:117026400-117026550	HVMF	connective:	n/a	n/a
6	CTCF	chr9:117026480-117026630	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr9:117026480-117026630	Caco-2	colon:	n/a	n/a
8	CTCF	chr9:117026520-117026670	AG04449	skin:	n/a	n/a
9	CTCF	chr9:117026500-117026650	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr9:117026529-117026630	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr9:117026520-117026670	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr9:117026480-117026630	BE2_C	brain:	n/a	n/a
13	CTCF	chr9:117026520-117026670	K562	blood:	n/a	n/a
14	CTCF	chr9:117026480-117026630	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr9:117026435-117026657	K562	blood:	n/a	n/a
16	CTCF	chr9:117026577-117026593	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr9:117026539-117026634	ProgFib	skin:	n/a	n/a
18	CTCF	chr9:117026480-117026630	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr9:117026480-117026630	AG09309	skin:	n/a	n/a
20	CTCF	chr9:117026550-117026656	HepG2	liver:	n/a	n/a
21	CTCF	chr9:117026580-117026730	GM12871	blood:	n/a	n/a
22	CTCF	chr9:117026480-117026630	HVMF	connective:	n/a	n/a
23	CTCF	chr9:117026400-117026550	AG09309	skin:	n/a	n/a
24	CTCF	chr9:117026436-117026758	K562	blood:	n/a	n/a
25	CTCF	chr9:117026531-117026658	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr9:117026480-117026630	SAEC	small airway:	n/a	n/a
27	CTCF	chr9:117026364-117026903	A549	lung:	n/a	chr9:117026390-117026403
28	CTCF	chr9:117026460-117026610	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr9:117026580-117026730	HAc	cerebellar:	n/a	n/a
30	CTCF	chr9:117026520-117026670	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr9:117026480-117026630	HCM	heart:	n/a	n/a
32	CTCF	chr9:117026520-117026670	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr9:117026525-117026658	GM12878	blood:	n/a	n/a
34	CTCF	chr9:117026500-117026650	BJ	skin:	n/a	n/a
35	CTCF	chr9:117026527-117026677	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr9:117026500-117026650	HCM	heart:	n/a	n/a
37	CTCF	chr9:117026458-117026735	K562	blood:	n/a	n/a
38	CTCF	chr9:117026500-117026650	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr9:117026520-117026670	HMF	breast:	n/a	n/a
40	CTCF	chr9:117026520-117026670	GM06990	blood:	n/a	n/a
41	CTCF	chr9:117026477-117026700	K562	blood:	n/a	n/a
42	CTCF	chr9:117026540-117026676	GM10266	blood:	n/a	n/a
43	CTCF	chr9:117026541-117026647	GM19239	blood:	n/a	n/a
44	CTCF	chr9:117026480-117026630	HRE	kidney:	n/a	n/a
45	CTCF	chr9:117026480-117026630	HCFaa	heart:	n/a	n/a
46	CTCF	chr9:117026559-117026670	GM13977	blood:	n/a	n/a
47	CTCF	chr9:117026620-117026770	A549	lung:	n/a	n/a
48	CTCF	chr9:117026407-117026755	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr9:117026583-117026617	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr9:117026540-117026690	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117004138..117006321-chr9:117024518..117026602,2	MCF-7	breast:
2	chr9:116844543..116845536-chr9:117026114..117026681,2	K562	blood:
3	chr9:116869941..116870862-chr9:117026162..117027038,2	K562	blood:
4	chr9:117019506..117021498-chr9:117026111..117027904,2	MCF-7	breast:
5	chr9:116869905..116870808-chr9:117026020..117026989,3	MCF-7	breast:

No data

Variant related genes	Relation type
COL27A1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535819244	chr9:117026525-117026526	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs554918149	chr9:117026565-117026566	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs4978576	chr9:117026581-117026582	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370379273	chr9:117026585-117026586	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200434976	chr9:117026593-117026594	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs367609372	chr9:117026599-117026600	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs148611858	chr9:117026606-117026607	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374497210	chr9:117026611-117026612	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs368497374	chr9:117026615-117026616	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201952625	chr9:117026642-117026643	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201234688	chr9:117026648-117026649	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs149608372	chr9:117026649-117026650	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs375423473	chr9:117026684-117026685	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD
Retinoblastoma	19183342	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116973400-117047000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:116978600-117041200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:116978800-117027600	Weak transcription	Esophagus	oesophagus
4	chr9:116978800-117027600	Weak transcription	Gastric	stomach
5	chr9:116999800-117034600	Weak transcription	HMEC	breast
6	chr9:117001600-117039400	Weak transcription	HUVEC	blood vessel
7	chr9:117002000-117041000	Weak transcription	Aorta	Aorta
8	chr9:117002800-117027000	Weak transcription	Spleen	Spleen
9	chr9:117005000-117050200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:117008600-117029000	Weak transcription	NHEK	skin
11	chr9:117011800-117030000	Strong transcription	HepG2	liver
12	chr9:117012400-117054400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:117013200-117028600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:117013200-117028800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:117013200-117028800	Weak transcription	HSMM	muscle
16	chr9:117013200-117029200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:117013200-117033600	Weak transcription	NHLF	lung
18	chr9:117013400-117027000	Weak transcription	Pancreas	Pancrea
19	chr9:117013400-117039400	Weak transcription	Ovary	ovary
20	chr9:117013400-117067800	Weak transcription	Right Ventricle	heart
21	chr9:117013600-117027000	Weak transcription	Lung	lung
22	chr9:117014200-117038400	Weak transcription	NHDF-Ad	bronchial
23	chr9:117015400-117037600	Weak transcription	A549	lung
24	chr9:117016200-117047400	Weak transcription	Fetal Kidney	kidney
25	chr9:117016800-117039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:117017600-117027600	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr9:117019400-117027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:117019800-117029000	Weak transcription	HSMMtube	muscle
29	chr9:117020800-117037800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:117022400-117038600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:117023600-117027200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:117024000-117027200	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:117024200-117033600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr9:117024400-117027400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:117024600-117033800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:117024600-117037600	Weak transcription	Stomach Mucosa	stomach
37	chr9:117024800-117028600	Weak transcription	Left Ventricle	heart
38	chr9:117024800-117033600	Weak transcription	Colonic Mucosa	Colon
39	chr9:117024800-117043000	Weak transcription	Right Atrium	heart
40	chr9:117025400-117026800	Genic enhancers	Fetal Stomach	stomach
41	chr9:117025600-117026600	Enhancers	Placenta	Placenta
42	chr9:117025600-117027600	Genic enhancers	Fetal Muscle Leg	muscle
43	chr9:117025800-117026600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:117025800-117026600	Enhancers	Fetal Heart	heart
45	chr9:117025800-117027200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:117025800-117027400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:117025800-117027600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:117025800-117028600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:117026000-117026600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:117026000-117026600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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