Variant report

Variant	esv3476546
Chromosome Location	chr7:105307784-105308244
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	chr7:105294800..105296638-chr7:105305884..105308222,2	MCF-7	breast:
2	chr7:105307573..105309117-chr7:105313407..105315788,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114282067	chr7:105307799-105307800	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112451508	chr7:105307834-105307835	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11770071	chr7:105307842-105307843	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372099730	chr7:105307864-105307865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146403553	chr7:105307868-105307869	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190298441	chr7:105307874-105307875	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530848032	chr7:105307884-105307885	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182162334	chr7:105307900-105307901	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12538035	chr7:105307912-105307913	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574893886	chr7:105308003-105308004	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200024582	chr7:105308006-105308007	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111825763	chr7:105308051-105308052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542207997	chr7:105308071-105308072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12538117	chr7:105308087-105308088	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527972439	chr7:105308097-105308098	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34527117	chr7:105308103-105308104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534399494	chr7:105308124-105308125	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397890100	chr7:105308146-105308147	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186062237	chr7:105308210-105308211	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376833598	chr7:105308239-105308240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
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
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105247000-105308800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr7:105280800-105319400	Weak transcription	Aorta	Aorta
3	chr7:105284000-105313200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:105286400-105307800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr7:105289800-105313200	Weak transcription	Psoas Muscle	Psoas
6	chr7:105290400-105307800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:105290400-105311800	Weak transcription	NHEK	skin
8	chr7:105290400-105321800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:105290800-105311000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:105296400-105313000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:105296400-105313200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:105296600-105313200	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:105296600-105313800	Weak transcription	Small Intestine	intestine
14	chr7:105296800-105314000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:105297000-105313400	Weak transcription	Right Ventricle	heart
16	chr7:105297000-105317400	Weak transcription	Stomach Mucosa	stomach
17	chr7:105302000-105319200	Weak transcription	Osteobl	bone
18	chr7:105302200-105319200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:105303800-105313400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:105303800-105313400	Weak transcription	Left Ventricle	heart
21	chr7:105303800-105313400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:105303800-105314400	Weak transcription	Esophagus	oesophagus
23	chr7:105303800-105317400	Weak transcription	Colonic Mucosa	Colon
24	chr7:105304000-105313400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:105304000-105313800	Weak transcription	Fetal Lung	lung
26	chr7:105304200-105309000	Weak transcription	Ovary	ovary
27	chr7:105304200-105313000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:105304200-105317400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:105304400-105313000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:105304400-105317600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:105304800-105307800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:105304800-105313000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:105304800-105314000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:105305000-105317400	Weak transcription	Fetal Intestine Large	intestine
35	chr7:105305200-105307800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:105305400-105307800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr7:105305400-105307800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:105305600-105307800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:105305600-105307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:105305600-105307800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:105305600-105308600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:105305600-105310200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:105305600-105313200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:105305600-105313800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:105305600-105318400	Weak transcription	NHLF	lung
46	chr7:105305800-105313000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:105305800-105313400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:105305800-105313800	Weak transcription	Brain Substantia Nigra	brain
49	chr7:105305800-105313800	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:105305800-105313800	Weak transcription	Right Atrium	heart

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