Variant report

Variant	esv3368729
Chromosome Location	chr7:7703429-7703906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7702478..7704915-chr7:7709957..7711916,2	MCF-7	breast:
2	chr7:7679863..7681686-chr7:7702542..7704997,4	K562	blood:

Variant related genes	Relation type
ENSG00000219545	chromatin interactions
ENSG00000106399	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372920517	chr7:7703449-7703450	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs7800853	chr7:7703466-7703467	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1012996	chr7:7703472-7703473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562541129	chr7:7703480-7703481	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574701489	chr7:7703482-7703483	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542005525	chr7:7703546-7703547	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs1012997	chr7:7703579-7703580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs199821414	chr7:7703589-7703590	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373879662	chr7:7703600-7703601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184298052	chr7:7703651-7703652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565118917	chr7:7703669-7703670	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532667264	chr7:7703713-7703714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138387973	chr7:7703726-7703727	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550814221	chr7:7703729-7703730	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376552681	chr7:7703743-7703744	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377036023	chr7:7703778-7703779	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs13227675	chr7:7703805-7703806	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189294560	chr7:7703837-7703838	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2107999	chr7:7703843-7703844	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2108000	chr7:7703855-7703856	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77243918	chr7:7703866-7703867	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558553351	chr7:7703872-7703873	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529630049	chr7:7703886-7703887	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	17229543	CNVD
Ovarian cancer	21781307	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7681600-7703800	Weak transcription	Stomach Mucosa	stomach
2	chr7:7681600-7710200	Weak transcription	Aorta	Aorta
3	chr7:7682000-7713800	Weak transcription	Left Ventricle	heart
4	chr7:7682200-7711600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:7687800-7717400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr7:7690600-7713800	Weak transcription	Fetal Intestine Large	intestine
7	chr7:7691800-7717600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:7692400-7717600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:7693000-7719200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:7693400-7714800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:7694800-7718400	Weak transcription	Ovary	ovary
12	chr7:7696600-7715400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:7699200-7710000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:7699800-7715400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:7701400-7705800	Weak transcription	Gastric	stomach
16	chr7:7701400-7713600	Weak transcription	Thymus	Thymus
17	chr7:7702000-7717000	Weak transcription	Fetal Stomach	stomach
18	chr7:7702000-7717400	Weak transcription	Fetal Intestine Small	intestine
19	chr7:7702200-7703800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:7702200-7715000	Weak transcription	Lung	lung
21	chr7:7702400-7703600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:7702400-7715000	Weak transcription	Adipose Nuclei	Adipose
23	chr7:7702400-7715400	Weak transcription	Pancreas	Pancrea
24	chr7:7702400-7715800	Weak transcription	Spleen	Spleen
25	chr7:7702600-7711800	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:7702800-7703600	Enhancers	Fetal Brain Female	brain
27	chr7:7702800-7703800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:7702800-7704000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:7702800-7704400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:7702800-7704400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:7703000-7704000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:7703200-7704400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr7:7703400-7704000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:7703400-7707000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:7703400-7726800	Weak transcription	Brain Germinal Matrix	brain
36	chr7:7703600-7704200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:7703600-7704400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr7:7703600-7704400	Enhancers	HUVEC	blood vessel
39	chr7:7703800-7704000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:7703800-7704000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:7703800-7704400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:7703800-7704400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:7703800-7704400	Enhancers	Stomach Mucosa	stomach
44	chr7:7703800-7705200	Enhancers	HUES64 Cell Line	embryonic stem cell

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