Variant report

Variant	nsv437532
Chromosome Location	chr7:7859248-7875445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7874040..7875689-chr7:7877089..7878814,2	K562	blood:
2	chr7:7863553..7865694-chr7:7865999..7867859,2	MCF-7	breast:
3	chr7:7837845..7840802-chr7:7861071..7863334,2	MCF-7	breast:
4	chr7:7859303..7861231-chr7:7867011..7868724,2	K562	blood:
5	chr7:7870591..7873330-chr7:7877143..7879924,2	MCF-7	breast:
6	chr7:7868412..7871281-chr7:8007922..8010242,2	MCF-7	breast:
7	chr7:7874970..7879526-chr7:8007155..8010412,4	MCF-7	breast:
8	chr7:7859303..7861231-chr7:7867011..7868724,2	K562	blood:
9	chr7:7866665..7868204-chr7:7899754..7902407,2	MCF-7	breast:
10	chr7:7863553..7865694-chr7:7865999..7867859,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106415	chromatin interactions
ENSG00000233108	chromatin interactions

Extended variants
information (count: 700 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2194657	chr7:7859248-7859249	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150689584	chr7:7859255-7859256	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562482767	chr7:7859256-7859257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529934166	chr7:7859306-7859307	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548134912	chr7:7859308-7859309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs139950986	chr7:7859309-7859310	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs75167848	chr7:7859315-7859316	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2194658	chr7:7859336-7859337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189550691	chr7:7859369-7859370	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs554728302	chr7:7859373-7859374	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539273227	chr7:7859401-7859402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35846505	chr7:7859427-7859428	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557581424	chr7:7859440-7859441	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569618324	chr7:7859448-7859449	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536948744	chr7:7859481-7859482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181319053	chr7:7859499-7859500	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572812679	chr7:7859529-7859530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs184028049	chr7:7859549-7859550	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372014659	chr7:7859554-7859555	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539824095	chr7:7859631-7859632	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539906765	chr7:7859652-7859653	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370475634	chr7:7859742-7859743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149777891	chr7:7859811-7859812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188761484	chr7:7859820-7859821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200709753	chr7:7859822-7859823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs202030000	chr7:7859824-7859825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200168605	chr7:7859826-7859827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146620401	chr7:7859827-7859828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114269362	chr7:7859834-7859835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114615667	chr7:7859835-7859836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147155196	chr7:7859837-7859838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149125684	chr7:7859838-7859839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145680757	chr7:7859849-7859850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181615644	chr7:7859902-7859903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60572793	chr7:7859903-7859904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs367642057	chr7:7859919-7859920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140616515	chr7:7859991-7859992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13221422	chr7:7860076-7860077	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528516684	chr7:7860084-7860085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146493979	chr7:7860089-7860090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187054306	chr7:7860122-7860123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115809158	chr7:7860128-7860129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192443615	chr7:7860151-7860152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569482073	chr7:7860172-7860173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180791343	chr7:7860185-7860186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555266769	chr7:7860203-7860204	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567037086	chr7:7860227-7860228	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140992109	chr7:7860256-7860257	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77559083	chr7:7860261-7860262	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374608911	chr7:7860269-7860270	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7825600-7864400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:7832000-7869200	Weak transcription	HSMMtube	muscle
3	chr7:7832400-7869400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:7836000-7869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:7837200-7876400	Weak transcription	Aorta	Aorta
6	chr7:7837200-7883400	Weak transcription	Left Ventricle	heart
7	chr7:7843400-7860600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:7854600-7868200	Weak transcription	Gastric	stomach
9	chr7:7855400-7869600	Weak transcription	HepG2	liver
10	chr7:7856000-7860600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:7856200-7887200	Weak transcription	Right Ventricle	heart
12	chr7:7856400-7862200	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:7856400-7883400	Weak transcription	Psoas Muscle	Psoas
14	chr7:7856600-7861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:7856600-7875800	Weak transcription	Small Intestine	intestine
16	chr7:7856600-7882800	Weak transcription	Thymus	Thymus
17	chr7:7856800-7860200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:7856800-7864000	Weak transcription	Primary T cells from cord blood	blood
19	chr7:7856800-7865400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:7857000-7869600	Weak transcription	Stomach Mucosa	stomach
21	chr7:7857400-7861000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:7857400-7864200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:7857600-7866200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:7857600-7867000	Weak transcription	Fetal Thymus	thymus
25	chr7:7857600-7870000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:7857600-7876200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:7858000-7869800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:7859000-7861800	Enhancers	Primary B cells from cord blood	blood
29	chr7:7859200-7859800	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:7859200-7860400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:7859200-7862400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:7859200-7862400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:7859400-7859600	Enhancers	Brain Germinal Matrix	brain
34	chr7:7859400-7860400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:7859600-7860600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:7859600-7862800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:7859800-7860200	Enhancers	GM12878-XiMat	blood
38	chr7:7859800-7860400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:7859800-7861000	Weak transcription	Brain Germinal Matrix	brain
40	chr7:7860000-7860200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:7860000-7861600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:7860200-7860400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:7860200-7860400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:7860200-7861400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:7860200-7861400	Flanking Active TSS	GM12878-XiMat	blood
46	chr7:7860200-7862400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:7860200-7863800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr7:7860400-7860600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:7860400-7860800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr7:7860400-7860800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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