Variant report

Variant	esv3409803
Chromosome Location	chr7:140383844-140390406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:140389680-140389830	K562	blood:	n/a	n/a
2	CTCF	chr7:140389255-140389285	Lung_OC	lung:	n/a	n/a
3	CTCF	chr7:140389588-140389807	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:140389700-140389850	HCFaa	heart:	n/a	n/a
5	CTCF	chr7:140389720-140389870	HA-sp	spinal cord:	n/a	n/a
6	CTCF	chr7:140389640-140389790	GM06990	blood:	n/a	n/a
7	CTCF	chr7:140389691-140389837	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr7:140389689-140389806	MCF-7	breast:	n/a	n/a
9	CTCF	chr7:140389571-140389907	K562	blood:	n/a	n/a
10	CTCF	chr7:140389701-140389798	MCF-7	breast:	n/a	n/a
11	CTCF	chr7:140389553-140389873	K562	blood:	n/a	n/a
12	CTCF	chr7:140389640-140389790	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr7:140389664-140389825	K562	blood:	n/a	n/a
14	CTCF	chr7:140389680-140389830	A549	lung:	n/a	n/a
15	CTCF	chr7:140389607-140389803	K562	blood:	n/a	n/a
16	CTCF	chr7:140389442-140389838	K562	blood:	n/a	n/a
17	CTCF	chr7:140389685-140389791	MCF-7	breast:	n/a	n/a
18	CTCF	chr7:140389715-140389808	GM12878	blood:	n/a	n/a
19	ELF1	chr7:140389607-140389761	K562	blood:	n/a	n/a
20	ELF1	chr7:140389586-140389840	K562	blood:	n/a	n/a
21	HEY1	chr7:140384066-140384668	K562	blood:	n/a	chr7:140384453-140384468
22	POLR2A	chr7:140386856-140386961	ProgFib	skin:	n/a	n/a
23	POLR2A	chr7:140385698-140385876	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr7:140387976-140388073	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:140389333-140389738	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:140386818-140386820	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:140384383-140384654	K562	blood:	n/a	n/a
28	POLR2A	chr7:140384074-140384415	K562	blood:	n/a	n/a
29	POLR2A	chr7:140384347-140384377	K562	blood:	n/a	n/a
30	POLR2A	chr7:140384070-140384782	K562	blood:	n/a	n/a
31	RAD21	chr7:140389673-140389799	K562	blood:	n/a	n/a
32	RAD21	chr7:140389588-140389952	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr7:140389636-140389796	K562	blood:	n/a	n/a
34	RCOR1	chr7:140383897-140384146	K562	blood:	n/a	n/a
35	TAF7	chr7:140384054-140384254	K562	blood:	n/a	n/a
36	TBP	chr7:140384013-140384187	K562	blood:	n/a	n/a
37	YY1	chr7:140384052-140384270	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140385716..140387944-chr7:140395530..140397431,2	MCF-7	breast:
2	chr7:140382354..140384471-chr7:140713180..140714780,2	K562	blood:
3	chr7:140383432..140386974-chr7:140394481..140397895,4	MCF-7	breast:
4	chr7:140380762..140385974-chr7:140393437..140399128,8	K562	blood:
5	chr7:140374106..140376810-chr7:140384000..140385788,2	MCF-7	breast:
6	chr7:140379583..140384830-chr7:140386891..140389682,4	K562	blood:
7	chr7:140379583..140384830-chr7:140386891..140389682,4	K562	blood:
8	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
9	chr7:140388716..140393042-chr7:140394354..140397528,10	K562	blood:
10	chr7:140370759..140373061-chr7:140385550..140389876,3	MCF-7	breast:
11	chr7:140377356..140380293-chr7:140381917..140384808,2	MCF-7	breast:
12	chr7:140371967..140374109-chr7:140384008..140387242,3	MCF-7	breast:
13	chr7:140373332..140374957-chr7:140387731..140389586,2	MCF-7	breast:
14	chr7:140381967..140384719-chr7:140711354..140714754,3	MCF-7	breast:
15	chr7:140381162..140385646-chr7:140395412..140398383,5	K562	blood:
16	chr7:140388053..140392866-chr7:140393585..140398020,10	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFB2	TF binding region
ENSG00000090266	chromatin interactions
ENSG00000090263	chromatin interactions
ENSG00000133597	chromatin interactions
ENSG00000240889	chromatin interactions
ENSG00000146966	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148002335	chr7:140383933-140383934	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs566976407	chr7:140383944-140383945	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs534331518	chr7:140383960-140383961	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs534163181	chr7:140384005-140384006	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs369362664	chr7:140384014-140384015	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs555676539	chr7:140384049-140384050	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs546538762	chr7:140384051-140384052	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs141708060	chr7:140384088-140384089	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs538950432	chr7:140384109-140384110	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs183352820	chr7:140384184-140384185	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs575553027	chr7:140384191-140384192	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs367679085	chr7:140384223-140384224	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs536449899	chr7:140384239-140384240	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs145997053	chr7:140384280-140384281	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs112292650	chr7:140384295-140384296	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs563572653	chr7:140384315-140384316	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs540284504	chr7:140384316-140384317	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs17161666	chr7:140384318-140384319	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs577148024	chr7:140384320-140384321	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs544928382	chr7:140384467-140384468	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs146218463	chr7:140384504-140384505	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs188002835	chr7:140384508-140384509	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs567571491	chr7:140384514-140384515	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs548333810	chr7:140384515-140384516	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs112035375	chr7:140384519-140384520	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs116966830	chr7:140384529-140384530	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs546354513	chr7:140384560-140384561	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs141751038	chr7:140384593-140384594	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs538247744	chr7:140384690-140384691	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs116182600	chr7:140384692-140384693	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs544898424	chr7:140384752-140384753	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs569129172	chr7:140384780-140384781	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs115085519	chr7:140384789-140384790	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs367975634	chr7:140384792-140384793	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs10241711	chr7:140384809-140384810	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs146264405	chr7:140384856-140384857	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs545801734	chr7:140384881-140384882	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs557986239	chr7:140384890-140384891	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs199620227	chr7:140384892-140384893	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs557928531	chr7:140384913-140384914	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs192252358	chr7:140384920-140384921	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs577212938	chr7:140384959-140384960	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs2930317	chr7:140384976-140384977	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs369673719	chr7:140384990-140384991	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs574758234	chr7:140385021-140385022	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs184297825	chr7:140385041-140385042	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs149979171	chr7:140385065-140385066	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs527863577	chr7:140385078-140385079	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs144248207	chr7:140385107-140385108	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs540425802	chr7:140385164-140385165	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140373600-140385400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:140373800-140395600	Weak transcription	NH-A	brain
3	chr7:140373800-140395800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:140373800-140396000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:140374000-140395800	Weak transcription	Fetal Lung	lung
6	chr7:140374000-140395800	Weak transcription	Right Atrium	heart
7	chr7:140374200-140395800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:140374200-140396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:140374200-140396000	Weak transcription	Psoas Muscle	Psoas
10	chr7:140374400-140395600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:140374400-140396200	Weak transcription	Small Intestine	intestine
12	chr7:140374600-140395600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:140374600-140395600	Weak transcription	A549	lung
14	chr7:140374600-140395800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:140374600-140395800	Weak transcription	Fetal Kidney	kidney
16	chr7:140374800-140395800	Weak transcription	Stomach Mucosa	stomach
17	chr7:140375000-140385000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr7:140375400-140392200	Strong transcription	Primary T cells from cord blood	blood
19	chr7:140375400-140394600	Weak transcription	Osteobl	bone
20	chr7:140375400-140395400	Strong transcription	Fetal Stomach	stomach
21	chr7:140375400-140395600	Weak transcription	HMEC	breast
22	chr7:140375600-140395600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:140375600-140395600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:140375600-140395800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:140375800-140390200	Strong transcription	Fetal Thymus	thymus
26	chr7:140375800-140395600	Weak transcription	Fetal Brain Male	brain
27	chr7:140375800-140395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:140375800-140395800	Weak transcription	NHDF-Ad	bronchial
29	chr7:140376000-140393200	Strong transcription	Placenta	Placenta
30	chr7:140376000-140395600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:140376000-140395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr7:140376200-140393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:140376400-140390200	Strong transcription	Dnd41	blood
34	chr7:140376600-140390200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:140376600-140395800	Weak transcription	GM12878-XiMat	blood
36	chr7:140376800-140395600	Strong transcription	Fetal Intestine Small	intestine
37	chr7:140377400-140384400	Strong transcription	Ovary	ovary
38	chr7:140377400-140390200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:140377400-140390200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:140377400-140392800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr7:140377400-140394400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:140377600-140384600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:140377600-140385400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:140377600-140390200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr7:140377600-140390400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:140377600-140393200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:140377800-140391800	Strong transcription	Spleen	Spleen
48	chr7:140377800-140394800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:140377800-140394800	Strong transcription	Thymus	Thymus
50	chr7:140378000-140390200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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