Variant report

Variant	esv3335186
Chromosome Location	chr9:100756939-100760935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:100760360-100760510	MCF-7	breast:	n/a	n/a
2	CTCF	chr9:100760220-100760370	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr9:100760220-100760370	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr9:100760140-100760290	A549	lung:	n/a	n/a
5	CTCF	chr9:100760180-100760330	GM12873	blood:	n/a	n/a
6	CTCF	chr9:100760100-100760250	AoAF	blood vessel:	n/a	n/a
7	IRF3	chr9:100760585-100760593	GM12878	blood:	n/a	n/a
8	MAX	chr9:100757115-100757239	NB4	blood:	n/a	chr9:100757153-100757163
9	POLR2A	chr9:100760640-100760779	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:100760313-100760563	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr9:100759737-100760968	HepG2	liver:	n/a	n/a
12	POLR2A	chr9:100759649-100760544	A549	lung:	n/a	n/a
13	POLR2A	chr9:100759873-100759999	K562	blood:	n/a	n/a
14	POLR2A	chr9:100759908-100759921	MCF-7	breast:	n/a	n/a
15	POLR2A	chr9:100760259-100760288	ProgFib	skin:	n/a	n/a
16	POLR2A	chr9:100759979-100759994	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr9:100759724-100759967	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr9:100760044-100760610	GM12878	blood:	n/a	n/a
19	POLR2A	chr9:100759965-100760592	K562	blood:	n/a	n/a
20	POLR2A	chr9:100757889-100757900	K562	blood:	n/a	n/a
21	POLR2A	chr9:100759621-100760871	K562	blood:	n/a	n/a
22	POLR2A	chr9:100757895-100758079	HepG2	liver:	n/a	n/a
23	POLR2A	chr9:100759999-100760467	GM12878	blood:	n/a	n/a
24	POLR2A	chr9:100758289-100758831	K562	blood:	n/a	n/a
25	POLR2A	chr9:100758366-100758784	K562	blood:	n/a	n/a
26	POLR2A	chr9:100759816-100759865	K562	blood:	n/a	n/a
27	POLR2A	chr9:100757693-100757977	K562	blood:	n/a	n/a
28	POLR2A	chr9:100760000-100760302	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr9:100760097-100760247	GM12891	blood:	n/a	n/a
30	POLR2A	chr9:100757149-100757306	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr9:100760213-100760232	ProgFib	skin:	n/a	n/a
32	POLR2A	chr9:100760057-100760581	HL-60	blood:	n/a	n/a
33	POLR2A	chr9:100758065-100758212	K562	blood:	n/a	n/a
34	POLR2A	chr9:100759588-100760654	K562	blood:	n/a	n/a
35	POLR2A	chr9:100757658-100757858	GM12878	blood:	n/a	n/a
36	POLR2A	chr9:100757183-100757944	K562	blood:	n/a	n/a
37	POLR2A	chr9:100760108-100760418	GM12891	blood:	n/a	n/a
38	POLR2A	chr9:100758308-100758373	K562	blood:	n/a	n/a
39	POLR2A	chr9:100760610-100760636	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr9:100758851-100759054	HepG2	liver:	n/a	n/a
41	POLR2A	chr9:100759739-100759814	K562	blood:	n/a	n/a
42	POLR2A	chr9:100757255-100757777	HepG2	liver:	n/a	n/a
43	POLR2A	chr9:100759796-100759831	MCF-7	breast:	n/a	n/a
44	POLR2A	chr9:100760070-100760330	GM12878	blood:	n/a	n/a
45	POLR2A	chr9:100759301-100760926	K562	blood:	n/a	n/a
46	POLR2A	chr9:100759981-100760472	HepG2	liver:	n/a	n/a
47	POLR2A	chr9:100757149-100757335	A549	lung:	n/a	n/a
48	POLR2A	chr9:100757779-100758245	K562	blood:	n/a	n/a
49	POLR2A	chr9:100760272-100760319	MCF-7	breast:	n/a	n/a
50	POLR2A	chr9:100757906-100757951	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100683949..100685611-chr9:100757327..100760260,3	K562	blood:
2	chr9:100755345..100757563-chr9:100771597..100774410,2	MCF-7	breast:
3	chr9:100683227..100687367-chr9:100758311..100762778,5	K562	blood:
4	chr9:100756765..100758556-chr9:100774591..100777214,2	MCF-7	breast:
5	chr9:100717654..100720111-chr9:100754691..100757274,2	K562	blood:
6	chr9:100757927..100760728-chr9:100775253..100778756,3	MCF-7	breast:
7	chr9:100754831..100757126-chr9:100775757..100778631,2	MCF-7	breast:
8	chr9:100756332..100760444-chr9:100817600..100819282,3	MCF-7	breast:

No data

Variant related genes	Relation type
ANP32B	TF binding region
ENSG00000136932	chromatin interactions
ENSG00000095380	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142118802	chr9:100756957-100756958	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376602943	chr9:100756959-100756960	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188640709	chr9:100756975-100756976	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146174352	chr9:100756984-100756985	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372216408	chr9:100757079-100757080	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375200191	chr9:100757085-100757086	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76977991	chr9:100757093-100757094	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192386922	chr9:100757095-100757096	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574543686	chr9:100757211-100757212	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375487923	chr9:100757328-100757329	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs34088659	chr9:100757331-100757332	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs141913371	chr9:100757341-100757342	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs872251	chr9:100757343-100757344	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs577348272	chr9:100757349-100757350	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs546105419	chr9:100757355-100757356	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs559963402	chr9:100757358-100757359	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs573469634	chr9:100757395-100757396	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs566636904	chr9:100757416-100757417	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs540980054	chr9:100757422-100757423	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs560864914	chr9:100757456-100757457	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs529756063	chr9:100757490-100757491	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs534042176	chr9:100757496-100757497	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs182368425	chr9:100757522-100757523	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs563266024	chr9:100757523-100757524	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs558792122	chr9:100757542-100757543	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs552099883	chr9:100757550-100757551	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs372089226	chr9:100757557-100757558	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs565924155	chr9:100757606-100757607	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs375074288	chr9:100757613-100757614	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs528375152	chr9:100757623-100757624	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs528159340	chr9:100757634-100757635	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs570885533	chr9:100757645-100757646	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs371377946	chr9:100757647-100757648	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs548122249	chr9:100757678-100757679	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs4510971	chr9:100757760-100757761	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs187914720	chr9:100757767-100757768	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs150636873	chr9:100757862-100757863	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs139703675	chr9:100757881-100757882	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs191755823	chr9:100757902-100757903	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs570874339	chr9:100757920-100757921	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs372386117	chr9:100757928-100757929	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs553295406	chr9:100757940-100757941	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs375492664	chr9:100757954-100757955	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs573430483	chr9:100757970-100757971	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs570622156	chr9:100757979-100757980	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs556129100	chr9:100757985-100757986	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs574463209	chr9:100758001-100758002	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs543463172	chr9:100758067-100758068	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs538385331	chr9:100758075-100758076	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs182848287	chr9:100758086-100758087	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100748000-100760400	Weak transcription	Fetal Kidney	kidney
2	chr9:100748000-100760800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr9:100748000-100767200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:100748400-100761600	Weak transcription	Brain Anterior Caudate	brain
5	chr9:100748600-100757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:100749000-100757800	Weak transcription	Fetal Stomach	stomach
7	chr9:100749200-100767200	Weak transcription	Esophagus	oesophagus
8	chr9:100750000-100767200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:100750000-100767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:100750400-100757400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:100750600-100757200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:100750800-100757000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:100750800-100764000	Weak transcription	Fetal Brain Female	brain
14	chr9:100751000-100761800	Weak transcription	Right Atrium	heart
15	chr9:100751000-100764200	Weak transcription	Fetal Brain Male	brain
16	chr9:100751000-100765200	Weak transcription	Aorta	Aorta
17	chr9:100751400-100757600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:100751800-100757600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr9:100752000-100784000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:100752800-100757000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:100752800-100757000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr9:100752800-100757000	Weak transcription	Placenta	Placenta
23	chr9:100752800-100757200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:100752800-100757600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:100752800-100757800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:100752800-100759600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:100753000-100757000	Weak transcription	HUVEC	blood vessel
28	chr9:100753000-100757200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr9:100753000-100761600	Weak transcription	HSMMtube	muscle
30	chr9:100753000-100767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:100753000-100768400	Weak transcription	Fetal Heart	heart
32	chr9:100753000-100769000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr9:100753200-100757000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:100753200-100757000	Weak transcription	HSMM	muscle
35	chr9:100753200-100757200	Weak transcription	NHDF-Ad	bronchial
36	chr9:100753400-100767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:100753600-100757000	Weak transcription	Left Ventricle	heart
38	chr9:100753600-100767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:100753800-100757000	Weak transcription	NH-A	brain
40	chr9:100754000-100757200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:100754400-100758000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:100754600-100757000	Enhancers	Fetal Intestine Small	intestine
43	chr9:100754600-100757200	Enhancers	Fetal Intestine Large	intestine
44	chr9:100754600-100784200	Strong transcription	Dnd41	blood
45	chr9:100754600-100784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:100754800-100757200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr9:100755000-100757000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:100755000-100757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:100755200-100759200	Weak transcription	NHLF	lung
50	chr9:100755200-100782200	Strong transcription	HepG2	liver

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