Variant report

Variant	esv2628908
Chromosome Location	chr7:116841339-116842832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116764325..116765196-chr7:116842810..116843683,3	MCF-7	breast:
2	chr7:116810934..116811888-chr7:116842719..116843797,5	MCF-7	breast:
3	chr7:116841164..116844098-chr7:116844507..116848579,3	MCF-7	breast:
4	chr7:116838446..116841411-chr7:116844852..116847542,2	K562	blood:
5	chr7:116831692..116834398-chr7:116842431..116844419,2	MCF-7	breast:
6	chr7:116810934..116811888-chr7:116842719..116843797,4	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2106627	chr7:116841364-116841365	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549193179	chr7:116841365-116841366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180953880	chr7:116841405-116841406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185950730	chr7:116841499-116841500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190419674	chr7:116841541-116841542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534832111	chr7:116841605-116841606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575976723	chr7:116841614-116841615	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34393006	chr7:116841626-116841627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546293302	chr7:116841628-116841629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11980583	chr7:116841671-116841672	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538359922	chr7:116841684-116841685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550221383	chr7:116841691-116841692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182202735	chr7:116841698-116841699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56085618	chr7:116841787-116841788	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56381259	chr7:116841789-116841790	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186966464	chr7:116841802-116841803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555522712	chr7:116841874-116841875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574289210	chr7:116841911-116841912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535293706	chr7:116841948-116841949	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553115671	chr7:116841954-116841955	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577926337	chr7:116841957-116841958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149912108	chr7:116841958-116841959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34093928	chr7:116842000-116842001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563816080	chr7:116842126-116842127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575783208	chr7:116842127-116842128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190459680	chr7:116842295-116842296	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182644204	chr7:116842312-116842313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140917934	chr7:116842314-116842315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185368575	chr7:116842353-116842354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113306583	chr7:116842486-116842487	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551367631	chr7:116842506-116842507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189991317	chr7:116842534-116842535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546825942	chr7:116842538-116842539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375229222	chr7:116842565-116842566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564737992	chr7:116842574-116842575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182625482	chr7:116842586-116842587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571280386	chr7:116842636-116842637	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537326320	chr7:116842641-116842642	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568640567	chr7:116842733-116842734	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529728686	chr7:116842738-116842739	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549183584	chr7:116842763-116842764	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73714391	chr7:116842788-116842789	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs57348179	chr7:116842793-116842794	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535011544	chr7:116842825-116842826	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:116798200-116866600	Weak transcription	HMEC	breast
4	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:116805200-116850000	Weak transcription	Psoas Muscle	Psoas
6	chr7:116807600-116857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:116810200-116850000	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:116812200-116850000	Weak transcription	Hela-S3	cervix
10	chr7:116817600-116849000	Weak transcription	Fetal Lung	lung
11	chr7:116824200-116867200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:116825400-116859600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:116827800-116859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:116828800-116865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:116830400-116849800	Weak transcription	Fetal Brain Male	brain
16	chr7:116830600-116853000	Weak transcription	NH-A	brain
17	chr7:116830800-116849800	Weak transcription	Brain Substantia Nigra	brain
18	chr7:116830800-116850200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:116830800-116859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:116830800-116859600	Weak transcription	Gastric	stomach
21	chr7:116831000-116850200	Weak transcription	Esophagus	oesophagus
22	chr7:116831000-116870800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:116831000-116870800	Weak transcription	Spleen	Spleen
24	chr7:116831200-116841400	Weak transcription	Brain Germinal Matrix	brain
25	chr7:116831200-116842400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:116831200-116842600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:116831200-116865200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:116831400-116850200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:116831400-116850400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:116831400-116858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:116831400-116859000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:116831400-116860400	Weak transcription	HepG2	liver
33	chr7:116831400-116861200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:116831600-116842400	Weak transcription	NHEK	skin
35	chr7:116832000-116849600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:116834000-116849800	Weak transcription	HSMMtube	muscle
37	chr7:116834200-116853200	Weak transcription	Osteobl	bone
38	chr7:116834400-116842400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:116834400-116868800	Weak transcription	HSMM	muscle
40	chr7:116834600-116841800	Weak transcription	NHDF-Ad	bronchial
41	chr7:116834600-116850000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:116834600-116850400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:116834600-116853000	Weak transcription	NHLF	lung
44	chr7:116835000-116871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:116838000-116843200	Weak transcription	Fetal Heart	heart
46	chr7:116838400-116842000	Strong transcription	Fetal Intestine Small	intestine
47	chr7:116838800-116850000	Weak transcription	GM12878-XiMat	blood
48	chr7:116838800-116859600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:116839000-116842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:116839000-116843400	Weak transcription	Right Ventricle	heart

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