Variant report

Variant	nsv966835
Chromosome Location	chr7:66270079-66271453
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	chr7:66264090..66265876-chr7:66269998..66272593,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200122784	chr7:66270116-66270117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535853596	chr7:66270121-66270122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369774402	chr7:66270127-66270128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552648785	chr7:66270180-66270181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149415747	chr7:66270197-66270198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144779294	chr7:66270205-66270206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13308600	chr7:66270222-66270223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13309557	chr7:66270232-66270233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13309245	chr7:66270242-66270243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558434519	chr7:66270294-66270295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369169707	chr7:66270307-66270308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575420176	chr7:66270386-66270387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544133985	chr7:66270404-66270405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201223322	chr7:66270409-66270410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554861092	chr7:66270425-66270426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112436625	chr7:66270433-66270434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543088695	chr7:66270499-66270500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182708813	chr7:66270547-66270548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528629765	chr7:66270558-66270559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545499364	chr7:66270583-66270584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56165921	chr7:66270596-66270597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs376490894	chr7:66270608-66270609	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114793583	chr7:66270695-66270696	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116940959	chr7:66270698-66270699	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567666300	chr7:66270721-66270722	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112380007	chr7:66270726-66270727	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375350648	chr7:66270727-66270728	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115553353	chr7:66270732-66270733	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76088882	chr7:66270737-66270738	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117268066	chr7:66270768-66270769	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76617781	chr7:66270783-66270784	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79897599	chr7:66270793-66270794	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76140424	chr7:66270794-66270795	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78866246	chr7:66270795-66270796	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76931477	chr7:66270816-66270817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79804593	chr7:66270822-66270823	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76497759	chr7:66270824-66270825	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79629573	chr7:66270825-66270826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74510275	chr7:66270854-66270855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78087344	chr7:66270858-66270859	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77870384	chr7:66270867-66270868	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75891398	chr7:66270877-66270878	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80105481	chr7:66270879-66270880	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78348925	chr7:66270880-66270881	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75695112	chr7:66270888-66270889	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566147246	chr7:66270891-66270892	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538329261	chr7:66270892-66270893	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77694207	chr7:66270896-66270897	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79428967	chr7:66270899-66270900	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397966748	chr7:66270913-66270914	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Type 1 diabetes	21085585	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66232600-66279800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:66234800-66275800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:66236800-66276800	Strong transcription	Dnd41	blood
4	chr7:66236800-66277000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:66236800-66278400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:66237200-66277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:66238200-66276600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:66245600-66279200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:66245600-66279400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:66246200-66277800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:66246200-66279800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:66248400-66277800	Strong transcription	Osteobl	bone
13	chr7:66248600-66276800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:66248800-66277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:66249400-66278600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:66250000-66279200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:66250000-66279200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:66250200-66277800	Strong transcription	Primary T cells from cord blood	blood
19	chr7:66250200-66278600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr7:66253200-66277600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:66254000-66277400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:66254000-66278400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:66254200-66276000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:66254200-66277200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr7:66254200-66278600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:66254600-66278600	Strong transcription	HSMM	muscle
27	chr7:66254800-66275800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:66254800-66276200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr7:66254800-66276800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr7:66254800-66276800	Strong transcription	HepG2	liver
31	chr7:66254800-66277800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr7:66255200-66277000	Strong transcription	HMEC	breast
33	chr7:66255600-66277200	Weak transcription	Fetal Heart	heart
34	chr7:66255600-66279800	Weak transcription	Right Atrium	heart
35	chr7:66256200-66278600	Strong transcription	Adipose Nuclei	Adipose
36	chr7:66256600-66272400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:66256600-66278400	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:66256600-66278600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:66256600-66279000	Strong transcription	Fetal Stomach	stomach
40	chr7:66257000-66276800	Strong transcription	Fetal Intestine Large	intestine
41	chr7:66257200-66277800	Strong transcription	Ovary	ovary
42	chr7:66257200-66278400	Strong transcription	Thymus	Thymus
43	chr7:66257600-66278600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:66258400-66277000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:66258600-66277000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:66258600-66277200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:66259200-66276600	Strong transcription	Fetal Brain Female	brain
48	chr7:66259400-66276800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:66259400-66276800	Strong transcription	Fetal Thymus	thymus
50	chr7:66259400-66277000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links