Variant report

Variant	nsv972791
Chromosome Location	chr9:100007482-100037888
allele	n/a
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	CEBPB	chr9:100034280-100034609	K562	blood:	n/a	chr9:100034493-100034504
2	CEBPB	chr9:100034435-100034600	A549	lung:	n/a	chr9:100034493-100034504
3	CEBPB	chr9:100021703-100021869	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:100034305-100034680	K562	blood:	n/a	chr9:100034493-100034504
5	CEBPB	chr9:100034429-100034571	Hela-S3	cervix:	n/a	chr9:100034493-100034504
6	CEBPB	chr9:100021708-100021890	K562	blood:	n/a	n/a
7	CEBPB	chr9:100034423-100034593	IMR90	lung:	n/a	chr9:100034493-100034504
8	CEBPB	chr9:100034333-100034569	K562	blood:	n/a	chr9:100034493-100034504
9	CEBPB	chr9:100034306-100034677	H1-hESC	embryonic stem cell:	n/a	chr9:100034493-100034504
10	CEBPB	chr9:100034386-100034586	HepG2	liver:	n/a	chr9:100034493-100034504
11	CEBPB	chr9:100034358-100034618	MCF-7	breast:	n/a	chr9:100034493-100034504
12	CTCF	chr9:100025391-100025528	K562	blood:	n/a	n/a
13	CTCF	chr9:100025400-100025550	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr9:100018736-100018879	Medullo	brain:	n/a	chr9:100018780-100018801
15	CTCF	chr9:100018760-100018910	AG04450	lung:	n/a	chr9:100018780-100018801
16	CTCF	chr9:100018780-100018930	HPAF	blood vessel:	n/a	chr9:100018780-100018801
17	CTCF	chr9:100017719-100017784	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr9:100030222-100030252	LNCaP	prostate:	n/a	n/a
19	CTCF	chr9:100018680-100018830	HMEC	breast:	n/a	chr9:100018780-100018801
20	CTCF	chr9:100018754-100018875	HUVEC	blood vessel:	n/a	chr9:100018780-100018801
21	CTCF	chr9:100018780-100018930	NHDF-neo	bronchial:	n/a	chr9:100018780-100018801
22	CTCF	chr9:100018720-100018870	HA-sp	spinal cord:	n/a	chr9:100018780-100018801
23	CTCF	chr9:100018780-100018930	AG10803	skin:	n/a	chr9:100018780-100018801
24	CTCF	chr9:100018780-100018930	AG09319	gingival:	n/a	chr9:100018780-100018801
25	CTCF	chr9:100022275-100022337	ProgFib	skin:	n/a	n/a
26	CTCF	chr9:100018760-100018910	HCFaa	heart:	n/a	chr9:100018780-100018801
27	CTCF	chr9:100018680-100018830	AG10803	skin:	n/a	chr9:100018780-100018801
28	CTCF	chr9:100018680-100018830	HPAF	blood vessel:	n/a	chr9:100018780-100018801
29	CTCF	chr9:100018760-100018910	HMF	breast:	n/a	chr9:100018780-100018801
30	CTCF	chr9:100018760-100018910	AoAF	blood vessel:	n/a	chr9:100018780-100018801
31	CTCF	chr9:100018720-100018870	HMF	breast:	n/a	chr9:100018780-100018801
32	CTCF	chr9:100018740-100018890	AoAF	blood vessel:	n/a	chr9:100018780-100018801
33	CTCF	chr9:100018780-100018930	HCPEpiC	choroid plexus:	n/a	chr9:100018780-100018801
34	CUX1	chr9:100034111-100034208	K562	blood:	n/a	n/a
35	E2F4	chr9:100026425-100026499	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F6	chr9:100033747-100033981	K562	blood:	n/a	n/a
37	ELF1	chr9:100033546-100033924	K562	blood:	n/a	n/a
38	EP300	chr9:100022678-100022902	K562	blood:	n/a	chr9:100022819-100022826
39	ESR1	chr9:100022402-100022745	T-47D	breast:	n/a	n/a
40	ESR1	chr9:100022426-100022776	T-47D	breast:	n/a	n/a
41	FOS	chr9:100030876-100031109	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr9:100030905-100031095	MCF10A-Er-Src	breast:	n/a	n/a
43	GATA1	chr9:100022451-100022996	PBDE	blood:	n/a	n/a
44	GATA3	chr9:100007424-100007624	SH-SY5Y	brain:	n/a	n/a
45	HEY1	chr9:100033732-100034007	K562	blood:	n/a	n/a
46	HEY1	chr9:100033780-100034029	K562	blood:	n/a	n/a
47	IRF1	chr9:100033183-100033352	K562	blood:	n/a	n/a
48	IRF1	chr9:100033106-100033251	K562	blood:	n/a	n/a
49	JUN	chr9:100023348-100023434	K562	blood:	n/a	n/a
50	JUND	chr9:100023332-100023567	K562	blood:	n/a	chr9:100023461-100023470 chr9:100023461-100023469 chr9:100023459-100023471 chr9:100023460-100023470 chr9:100023462-100023469

No.	Distal block	Cell Line	Cell type
1	chr9:99999075..100001905-chr9:100002725..100008617,7	K562	blood:
2	chr9:99998876..100000732-chr9:100034025..100036977,2	K562	blood:
3	chr9:99999075..100002333-chr9:100004185..100008617,4	K562	blood:
4	chr9:33496241..33497773-chr9:100020553..100022401,2	K562	blood:
5	chr9:100003140..100004870-chr9:100029614..100032184,2	K562	blood:
6	chr9:100031832..100033632-chr9:100044301..100046753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254633	TF binding region
ENSG00000255036	TF binding region
ENSG00000254876	chromatin interactions
ENSG00000254483	chromatin interactions
ENSG00000197816	chromatin interactions
ENSG00000203279	chromatin interactions

Extended variants
information (count: 1155 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1155 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545114619	chr9:100007493-100007494	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs10521029	chr9:100007521-100007522	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs71368291	chr9:100007542-100007543	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs398068804	chr9:100007551-100007552	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs10739337	chr9:100007707-100007708	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs542387736	chr9:100007782-100007783	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs560766722	chr9:100007831-100007832	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs370677703	chr9:100007841-100007842	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs533882064	chr9:100007843-100007844	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs374198316	chr9:100007878-100007879	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs538155691	chr9:100007918-100007919	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs531428561	chr9:100007942-100007943	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs189820970	chr9:100007967-100007968	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs148518255	chr9:100007975-100007976	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs182036125	chr9:100008051-100008052	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs10116404	chr9:100008091-100008092	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs12348059	chr9:100008133-100008134	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs185439969	chr9:100008134-100008135	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs567140119	chr9:100008135-100008136	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs528007423	chr9:100008150-100008151	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs549731367	chr9:100008238-100008239	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs116908438	chr9:100008253-100008254	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs190545071	chr9:100008269-100008270	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs181989778	chr9:100008279-100008280	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs368065601	chr9:100008290-100008291	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs146741696	chr9:100008311-100008312	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs571660425	chr9:100008312-100008313	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs374729569	chr9:100008376-100008377	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs7020002	chr9:100008390-100008391	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs553773717	chr9:100008405-100008406	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs140428063	chr9:100008415-100008416	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs536128004	chr9:100008426-100008427	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs554486781	chr9:100008466-100008467	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs7020144	chr9:100008543-100008544	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs150992290	chr9:100008590-100008591	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs112891591	chr9:100008614-100008615	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs200169634	chr9:100008617-100008618	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs564947015	chr9:100008622-100008623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576885724	chr9:100008640-100008641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140765092	chr9:100008659-100008660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185044791	chr9:100008668-100008669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538271941	chr9:100008719-100008720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529742965	chr9:100008767-100008768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566152363	chr9:100008768-100008769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79748500	chr9:100008788-100008789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112842029	chr9:100008795-100008796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554337236	chr9:100008800-100008801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201183270	chr9:100008802-100008803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199682909	chr9:100008803-100008804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189900684	chr9:100008936-100008937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100001200-100011000	Weak transcription	Lung	lung
2	chr9:100001200-100017000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:100001200-100039400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:100001400-100010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:100001400-100014000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr9:100001400-100017600	Weak transcription	Left Ventricle	heart
7	chr9:100001400-100017800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:100001600-100012800	Weak transcription	Fetal Kidney	kidney
9	chr9:100001600-100014000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:100001600-100022200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:100001600-100037400	Weak transcription	Primary T cells from cord blood	blood
12	chr9:100001800-100012800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:100002000-100010400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:100002000-100011000	Weak transcription	Fetal Stomach	stomach
15	chr9:100002000-100011600	Weak transcription	Pancreas	Pancrea
16	chr9:100002000-100013200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:100002000-100013400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr9:100002000-100015200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:100002000-100016600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr9:100002000-100016600	Weak transcription	Thymus	Thymus
21	chr9:100002000-100018000	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:100002000-100023000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:100002000-100025400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:100002000-100037400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr9:100002000-100037800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:100002000-100038600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr9:100002000-100038600	Weak transcription	Fetal Intestine Large	intestine
28	chr9:100002000-100038600	Weak transcription	Fetal Intestine Small	intestine
29	chr9:100002000-100038800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr9:100002000-100038800	Weak transcription	Ovary	ovary
31	chr9:100002000-100038800	Weak transcription	Right Ventricle	heart
32	chr9:100002000-100039000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr9:100002000-100039600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr9:100002000-100039600	Weak transcription	Adipose Nuclei	Adipose
35	chr9:100002000-100039600	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:100002000-100039600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr9:100002000-100040400	Weak transcription	Spleen	Spleen
38	chr9:100002200-100010800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr9:100002200-100013000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:100002200-100014600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr9:100002200-100038800	Weak transcription	Liver	Liver
42	chr9:100002200-100039400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr9:100002200-100039400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:100002400-100010200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:100002400-100010600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:100002400-100037400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr9:100003200-100017600	Weak transcription	Dnd41	blood
48	chr9:100006200-100010400	Weak transcription	Osteobl	bone
49	chr9:100006800-100010800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:100009000-100009200	Enhancers	Psoas Muscle	Psoas

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