Variant report

Variant	nsv970790
Chromosome Location	chr7:7781408-7782458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:7781820-7781970	HEK293	kidney:	n/a	n/a
2	CTCF	chr7:7782060-7782210	HEEpiC	esophagus:	n/a	n/a
3	CTCF	chr7:7781855-7782284	K562	blood:	n/a	n/a
4	CTCF	chr7:7781963-7782058	MCF-7	breast:	n/a	n/a
5	CTCF	chr7:7781958-7781997	Gliobla	brain:	n/a	n/a
6	CTCF	chr7:7781883-7782428	HCT-116	colon:	n/a	n/a
7	CTCF	chr7:7782062-7782357	A549	lung:	n/a	n/a
8	CTCF	chr7:7782071-7782260	A549	lung:	n/a	n/a
9	CTCF	chr7:7782151-7782230	MCF-7	breast:	n/a	n/a
10	CTCF	chr7:7782110-7782236	MCF-7	breast:	n/a	n/a
11	CTCF	chr7:7782113-7782253	K562	blood:	n/a	n/a
12	CTCF	chr7:7782020-7782170	NB4	blood:	n/a	n/a
13	CTCF	chr7:7782040-7782190	BE2_C	brain:	n/a	n/a
14	CTCF	chr7:7782150-7782231	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr7:7782105-7782251	Gliobla	brain:	n/a	n/a
16	CTCF	chr7:7782102-7782256	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:7781920-7782070	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr7:7781948-7782056	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:7781879-7782265	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr7:7782168-7782231	K562	blood:	n/a	n/a
21	CTCF	chr7:7782040-7782190	HMF	breast:	n/a	n/a
22	CTCF	chr7:7782080-7782230	BE2_C	brain:	n/a	n/a
23	CTCF	chr7:7782136-7782202	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:7782119-7782217	A549	lung:	n/a	n/a
25	CTCF	chr7:7782155-7782247	Medullo	brain:	n/a	n/a
26	CTCF	chr7:7781980-7782130	A549	lung:	n/a	n/a
27	MAZ	chr7:7782125-7782236	K562	blood:	n/a	n/a
28	POLR2A	chr7:7782081-7782247	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr7:7782131-7782211	A549	lung:	n/a	n/a
30	POLR2A	chr7:7781817-7781818	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:7781692-7781709	MCF-7	breast:	n/a	n/a
32	POLR2A	chr7:7781719-7781725	MCF-7	breast:	n/a	n/a
33	POLR2A	chr7:7782129-7782205	A549	lung:	n/a	n/a
34	POLR2A	chr7:7781726-7781766	MCF-7	breast:	n/a	n/a
35	RAD21	chr7:7782125-7782309	Hela-S3	cervix:	n/a	n/a
36	RAD21	chr7:7781986-7782300	SK-N-SH_RA	brain:	n/a	n/a
37	RAD21	chr7:7781760-7782314	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr7:7782073-7782290	SK-N-SH_RA	brain:	n/a	n/a
39	RAD21	chr7:7781806-7782303	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr7:7781825-7782285	H1-hESC	embryonic stem cell:	n/a	n/a
41	YY1	chr7:7781885-7782331	H1-hESC	embryonic stem cell:	n/a	n/a
42	YY1	chr7:7781970-7782313	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr7:7782073-7782231	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
RPL23AP51	TF binding region
ENSG00000234718	TF binding region
ENSG00000270314	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568766169	chr7:7781424-7781425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537492018	chr7:7781465-7781466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376915439	chr7:7781489-7781490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370773447	chr7:7781510-7781511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529585887	chr7:7781555-7781556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77773259	chr7:7781560-7781561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398066583	chr7:7781563-7781564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555470488	chr7:7781566-7781567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4725021	chr7:7781569-7781570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574105303	chr7:7781570-7781571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565776383	chr7:7781689-7781690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190243167	chr7:7781694-7781695	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs553469213	chr7:7781733-7781734	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs182826158	chr7:7781743-7781744	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545570770	chr7:7781754-7781755	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs563982366	chr7:7781850-7781851	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs12702641	chr7:7781887-7781888	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs13222137	chr7:7781912-7781913	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374497098	chr7:7781923-7781924	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560701186	chr7:7781994-7781995	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs528225983	chr7:7781996-7781997	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs546397235	chr7:7781997-7781998	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs572828812	chr7:7782002-7782003	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs564612433	chr7:7782039-7782040	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532180915	chr7:7782054-7782055	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs536716145	chr7:7782074-7782075	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs550349961	chr7:7782092-7782093	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs568858250	chr7:7782111-7782112	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs569824295	chr7:7782144-7782145	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs549390683	chr7:7782169-7782170	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs567566286	chr7:7782173-7782174	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs368405663	chr7:7782181-7782182	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs534988811	chr7:7782186-7782187	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs553505921	chr7:7782233-7782234	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs578113826	chr7:7782253-7782254	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs539280358	chr7:7782258-7782259	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs150933369	chr7:7782286-7782287	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs575921921	chr7:7782330-7782331	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs536996633	chr7:7782345-7782346	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs542936839	chr7:7782346-7782347	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7752600-7790400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:7759000-7785800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr7:7759400-7791200	Weak transcription	Esophagus	oesophagus
4	chr7:7759600-7786800	Weak transcription	Aorta	Aorta
5	chr7:7760800-7785200	Weak transcription	Primary B cells from cord blood	blood
6	chr7:7771000-7785600	Weak transcription	Pancreas	Pancrea
7	chr7:7771200-7785800	Weak transcription	Fetal Intestine Small	intestine
8	chr7:7771600-7783000	Weak transcription	Ovary	ovary
9	chr7:7771600-7784800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:7771600-7785400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:7771600-7791000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:7772000-7786000	Weak transcription	Brain Germinal Matrix	brain
13	chr7:7772200-7784800	Weak transcription	Fetal Heart	heart
14	chr7:7773000-7802000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:7776800-7782800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:7777200-7782600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:7777400-7781600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:7778400-7784800	Weak transcription	Stomach Mucosa	stomach
19	chr7:7778600-7797400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:7779000-7784800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:7779000-7787200	Weak transcription	Small Intestine	intestine
22	chr7:7779600-7786400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:7779800-7782800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:7779800-7785600	Weak transcription	Fetal Thymus	thymus
25	chr7:7779800-7796000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:7779800-7800200	Weak transcription	Thymus	Thymus
27	chr7:7780000-7781800	Weak transcription	Gastric	stomach
28	chr7:7780200-7782600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:7780400-7786000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:7780600-7786000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:7781600-7783000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:7781800-7782200	Enhancers	Gastric	stomach
33	chr7:7782200-7784800	Weak transcription	Gastric	stomach

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