Variant report

Variant	esv3419197
Chromosome Location	chr7:100675132-100680430
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	chr7:100673454..100676162-chr7:100684311..100686257,2	MCF-7	breast:
2	chr7:100651695..100653589-chr7:100673839..100675756,2	MCF-7	breast:

Extended variants
information (count: 642 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115500432	chr7:100675132-100675133	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371869918	chr7:100675133-100675134	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375249312	chr7:100675135-100675136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567129894	chr7:100675136-100675137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542185793	chr7:100675152-100675153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200331855	chr7:100675159-100675160	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111227419	chr7:100675164-100675165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199776258	chr7:100675175-100675176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369222127	chr7:100675178-100675179	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567787391	chr7:100675181-100675182	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537936932	chr7:100675197-100675198	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372923916	chr7:100675227-100675228	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375655258	chr7:100675242-100675243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141443818	chr7:100675251-100675252	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147023140	chr7:100675284-100675285	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556547867	chr7:100675297-100675298	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371729341	chr7:100675325-100675326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560663109	chr7:100675351-100675352	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116801454	chr7:100675367-100675368	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143664405	chr7:100675374-100675375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143067910	chr7:100675375-100675376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10229731	chr7:100675376-100675377	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201467055	chr7:100675393-100675394	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540080829	chr7:100675419-100675420	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533363722	chr7:100675447-100675448	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368840848	chr7:100675451-100675452	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373133725	chr7:100675462-100675463	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376860156	chr7:100675481-100675482	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371532269	chr7:100675491-100675492	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10259584	chr7:100675512-100675513	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150719489	chr7:100675538-100675539	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201857499	chr7:100675547-100675548	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139140935	chr7:100675568-100675569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143051032	chr7:100675572-100675573	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370578064	chr7:100675575-100675576	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532968372	chr7:100675592-100675593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551349153	chr7:100675626-100675627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187460352	chr7:100675631-100675632	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111839436	chr7:100675634-100675635	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527980140	chr7:100675650-100675651	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372425590	chr7:100675708-100675709	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549587315	chr7:100675712-100675713	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4729645	chr7:100675713-100675714	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538405099	chr7:100675714-100675715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550020068	chr7:100675724-100675725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375381499	chr7:100675729-100675730	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571365213	chr7:100675731-100675732	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368047713	chr7:100675732-100675733	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200732180	chr7:100675736-100675737	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538648034	chr7:100675743-100675744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Gastric cancer	24379144	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
Prostate cancer	16461572	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
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100661000-100676800	Weak transcription	Right Atrium	heart
2	chr7:100661000-100684200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:100669800-100675800	Strong transcription	Fetal Intestine Small	intestine
4	chr7:100672200-100702400	Strong transcription	Duodenum Mucosa	Duodenum
5	chr7:100673600-100676800	Strong transcription	Fetal Intestine Large	intestine
6	chr7:100674200-100687000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr7:100674800-100685400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:100675800-100687200	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr7:100676800-100680800	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr7:100678200-100678400	Active TSS	Spleen	Spleen
11	chr7:100678400-100679800	Weak transcription	Spleen	Spleen
12	chr7:100678800-100679400	Active TSS	Brain Substantia Nigra	brain
13	chr7:100679400-100682800	Weak transcription	Small Intestine	intestine
14	chr7:100680400-100681000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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