Variant report

Variant	nsv516034
Chromosome Location	chr7:111730967-111759584
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:111744902..111746458-chr7:111746527..111748789,2	MCF-7	breast:
2	chr7:111730398..111731930-chr7:111732566..111734324,2	MCF-7	breast:
3	chr7:111741244..111742824-chr7:112088997..112090743,2	MCF-7	breast:
4	chr7:111749030..111751318-chr7:111759672..111761977,2	MCF-7	breast:
5	chr7:111735196..111738004-chr7:111739668..111741650,2	K562	blood:
6	chr7:111739006..111741614-chr7:111745042..111747741,2	K562	blood:
7	chr7:111733344..111737264-chr7:111740377..111743669,3	MCF-7	breast:
8	chr7:111733344..111737264-chr7:111740377..111743669,3	MCF-7	breast:
9	chr7:111727544..111730183-chr7:111730698..111732624,2	MCF-7	breast:
10	chr7:111725644..111728326-chr7:111730288..111732992,2	K562	blood:
11	chr7:111727653..111730337-chr7:111737903..111739641,2	K562	blood:
12	chr7:111744902..111746458-chr7:111746527..111748789,2	MCF-7	breast:
13	chr7:111758810..111761177-chr7:111862385..111864737,2	K562	blood:
14	chr7:111730398..111731930-chr7:111732566..111734324,2	MCF-7	breast:
15	chr7:111735196..111738004-chr7:111739668..111741650,2	K562	blood:
16	chr7:111739006..111741614-chr7:111745042..111747741,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006652	chromatin interactions

Extended variants
information (count: 1094 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1094 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2729538	chr7:111730967-111730968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10281256	chr7:111730989-111730990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10236078	chr7:111730998-111730999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183274130	chr7:111731012-111731013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186834905	chr7:111731070-111731071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540755895	chr7:111731077-111731078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559428506	chr7:111731106-111731107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562668955	chr7:111731126-111731127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35951761	chr7:111731129-111731130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571516719	chr7:111731189-111731190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532351264	chr7:111731212-111731213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10266032	chr7:111731240-111731241	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568949998	chr7:111731269-111731270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73210933	chr7:111731314-111731315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368111026	chr7:111731393-111731394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563202532	chr7:111731434-111731435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554577235	chr7:111731442-111731443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs137880447	chr7:111731455-111731456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548911786	chr7:111731466-111731467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192557609	chr7:111731467-111731468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10225837	chr7:111731478-111731479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149457771	chr7:111731492-111731493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375066713	chr7:111731495-111731496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571733776	chr7:111731504-111731505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538998538	chr7:111731527-111731528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377660388	chr7:111731608-111731609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569522194	chr7:111731610-111731611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369178745	chr7:111731617-111731618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372154541	chr7:111731619-111731620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536940163	chr7:111731636-111731637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555281006	chr7:111731650-111731651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573337458	chr7:111731660-111731661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144367350	chr7:111731665-111731666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552760052	chr7:111731683-111731684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148801389	chr7:111731698-111731699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544559174	chr7:111731712-111731713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562941698	chr7:111731721-111731722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530463611	chr7:111731752-111731753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542540101	chr7:111731790-111731791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561262111	chr7:111731800-111731801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377271053	chr7:111731822-111731823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7800386	chr7:111731829-111731830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184779955	chr7:111731881-111731882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577868725	chr7:111731899-111731900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141506542	chr7:111731915-111731916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545591688	chr7:111732026-111732027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554414675	chr7:111732037-111732038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565190654	chr7:111732081-111732082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532652840	chr7:111732114-111732115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557237105	chr7:111732124-111732125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	20824129	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111713200-111742400	Weak transcription	Right Ventricle	heart
2	chr7:111720600-111753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:111721400-111737800	Weak transcription	NHEK	skin
4	chr7:111721400-111743600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:111721600-111732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:111721600-111736800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:111722200-111734800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:111722200-111736800	Weak transcription	Left Ventricle	heart
9	chr7:111722200-111736800	Weak transcription	Lung	lung
10	chr7:111724600-111746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:111725000-111731400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:111725000-111733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:111725000-111737000	Weak transcription	Right Atrium	heart
14	chr7:111725200-111736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:111725200-111743000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:111727000-111731200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:111727000-111736400	Weak transcription	Ovary	ovary
18	chr7:111727000-111749000	Weak transcription	Pancreas	Pancrea
19	chr7:111727200-111731200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:111727200-111732200	Weak transcription	Brain Angular Gyrus	brain
21	chr7:111728200-111731000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:111728200-111731600	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:111728200-111732800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:111728800-111731000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:111728800-111736800	Weak transcription	Psoas Muscle	Psoas
26	chr7:111728800-111737400	Weak transcription	HUVEC	blood vessel
27	chr7:111729600-111731600	Weak transcription	Liver	Liver
28	chr7:111729800-111731000	Weak transcription	HepG2	liver
29	chr7:111730200-111732400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:111730200-111737200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:111730800-111731400	Enhancers	Fetal Lung	lung
32	chr7:111730800-111731400	Enhancers	A549	lung
33	chr7:111730800-111733400	Enhancers	Brain Anterior Caudate	brain
34	chr7:111730800-111733600	Enhancers	Brain Substantia Nigra	brain
35	chr7:111731000-111733000	Enhancers	HepG2	liver
36	chr7:111731000-111733400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:111731000-111733600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:111731200-111733400	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:111731400-111731800	Weak transcription	Fetal Lung	lung
40	chr7:111731400-111731800	Weak transcription	A549	lung
41	chr7:111731400-111733400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr7:111731600-111733200	Enhancers	Liver	Liver
43	chr7:111731600-111733400	Enhancers	Brain Hippocampus Middle	brain
44	chr7:111731800-111732400	Enhancers	A549	lung
45	chr7:111731800-111733200	Enhancers	Fetal Lung	lung
46	chr7:111732200-111733400	Enhancers	Brain Angular Gyrus	brain
47	chr7:111732400-111733600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:111732400-111733600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:111732400-111733600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:111732600-111733000	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links