Variant report

Variant	esv3391876
Chromosome Location	chr7:66193715-66194474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66192001..66196955-chr7:66201177..66204851,5	K562	blood:
2	chr7:66193504..66195252-chr7:66203125..66205739,2	MCF-7	breast:
3	chr7:66161961..66163961-chr7:66193287..66195018,2	K562	blood:
4	chr7:66193552..66195929-chr7:66201268..66203494,2	K562	blood:
5	chr7:66167573..66170177-chr7:66193473..66196391,2	K562	blood:

Variant related genes	Relation type
ENSG00000243335	chromatin interactions
ENSG00000272831	chromatin interactions
ENSG00000154710	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200612883	chr7:66193723-66193724	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs201596547	chr7:66193728-66193729	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs111614069	chr7:66193738-66193739	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs112851725	chr7:66193747-66193748	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs201493826	chr7:66193748-66193749	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs199657509	chr7:66193761-66193762	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs199810095	chr7:66193772-66193773	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs78308391	chr7:66193801-66193802	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs375606817	chr7:66193803-66193804	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs202075548	chr7:66193806-66193807	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs72506766	chr7:66193837-66193838	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs368350004	chr7:66193887-66193888	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs62466796	chr7:66193904-66193905	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs186721135	chr7:66193999-66194000	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs58347342	chr7:66194001-66194002	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs558937900	chr7:66194040-66194041	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs540327794	chr7:66194127-66194128	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs578034850	chr7:66194136-66194137	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs543462010	chr7:66194159-66194160	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs563767527	chr7:66194201-66194202	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs574070310	chr7:66194254-66194255	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs543134826	chr7:66194293-66194294	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs559506441	chr7:66194300-66194301	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs528701172	chr7:66194301-66194302	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs551655847	chr7:66194321-66194322	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs372762005	chr7:66194336-66194337	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs563610113	chr7:66194368-66194369	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs565241635	chr7:66194381-66194382	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs200458734	chr7:66194385-66194386	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs530487063	chr7:66194419-66194420	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs74438172	chr7:66194436-66194437	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs75169786	chr7:66194438-66194439	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs73137982	chr7:66194466-66194467	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66149000-66199600	Weak transcription	Thymus	Thymus
2	chr7:66162600-66196800	Weak transcription	Right Ventricle	heart
3	chr7:66165400-66204600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:66165800-66197000	Weak transcription	Right Atrium	heart
5	chr7:66176400-66204600	Weak transcription	Colonic Mucosa	Colon
6	chr7:66178600-66200400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:66178800-66197000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:66179000-66197200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:66179200-66200600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:66179400-66199800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:66179600-66204600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:66181600-66196000	Weak transcription	Ovary	ovary
13	chr7:66181600-66202000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:66182600-66199800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:66182800-66205000	Weak transcription	Gastric	stomach
16	chr7:66185400-66197600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:66188400-66196800	Weak transcription	Adipose Nuclei	Adipose
18	chr7:66188400-66201800	Weak transcription	Fetal Brain Male	brain
19	chr7:66189400-66197000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:66189800-66196800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:66190000-66193800	Strong transcription	Fetal Intestine Small	intestine
22	chr7:66190000-66194000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:66190000-66200400	Weak transcription	HepG2	liver
24	chr7:66190000-66201200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:66190200-66198800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:66190400-66196200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:66190400-66197600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:66190400-66204600	Weak transcription	Stomach Mucosa	stomach
29	chr7:66190600-66200200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:66190600-66201200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:66190800-66194200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:66190800-66200200	Weak transcription	Brain Anterior Caudate	brain
33	chr7:66190800-66200400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:66190800-66200600	Weak transcription	HSMM	muscle
35	chr7:66190800-66204400	Weak transcription	Fetal Heart	heart
36	chr7:66190800-66204600	Weak transcription	NHEK	skin
37	chr7:66191000-66197200	Weak transcription	GM12878-XiMat	blood
38	chr7:66191000-66197200	Weak transcription	HSMMtube	muscle
39	chr7:66191000-66199600	Weak transcription	Osteobl	bone
40	chr7:66191000-66199800	Weak transcription	Liver	Liver
41	chr7:66191000-66200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:66191000-66200600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:66191000-66200600	Weak transcription	Brain Angular Gyrus	brain
44	chr7:66191200-66193800	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:66191200-66194400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:66191200-66196000	Weak transcription	Pancreas	Pancrea
47	chr7:66191200-66196600	Weak transcription	Brain Substantia Nigra	brain
48	chr7:66191200-66196800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:66191200-66199800	Weak transcription	Left Ventricle	heart
50	chr7:66191200-66199800	Weak transcription	Monocytes-CD14+_RO01746	blood

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