Variant report

Variant	esv3333586
Chromosome Location	chr7:100636632-100648430
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	chr7:100648084..100649778-chr7:100660214..100661843,2	MCF-7	breast:
2	chr7:100648211..100651401-chr7:100653251..100655813,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACHE-6	chr7:100647545-100647615	NONHSAT122434
2	lnc-ACHE-6	chr7:100643354-100643800	NONHSAT122434

Variant related genes	Relation type
ENSG00000205277	chromatin interactions
ENSG00000227053	chromatin interactions

Extended variants
information (count: 562 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571743181	chr7:100636635-100636636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532480722	chr7:100636642-100636643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547801918	chr7:100636652-100636653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565925061	chr7:100636666-100636667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534141092	chr7:100636680-100636681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555194513	chr7:100636682-100636683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200862007	chr7:100636694-100636695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567132902	chr7:100636700-100636701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537615184	chr7:100636710-100636711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555860807	chr7:100636711-100636712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577702501	chr7:100636715-100636716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201822262	chr7:100636722-100636723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553776524	chr7:100636727-100636728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200215189	chr7:100636757-100636758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543318120	chr7:100636760-100636761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200648252	chr7:100636765-100636766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201938562	chr7:100636772-100636773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145616035	chr7:100636820-100636821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189470868	chr7:100636831-100636832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544060568	chr7:100636840-100636841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565461640	chr7:100636844-100636845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541661005	chr7:100636846-100636847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547568790	chr7:100636848-100636849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146543573	chr7:100636853-100636854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199981556	chr7:100636860-100636861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548880460	chr7:100636864-100636865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567193647	chr7:100636892-100636893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537724391	chr7:100636913-100636914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549606102	chr7:100636942-100636943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113348085	chr7:100636961-100636962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571352570	chr7:100636966-100636967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202180008	chr7:100637008-100637009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553547297	chr7:100637028-100637029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200301907	chr7:100637035-100637036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200567764	chr7:100637041-100637042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554585534	chr7:100637045-100637046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576844907	chr7:100637053-100637054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199836803	chr7:100637073-100637074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200730762	chr7:100637074-100637075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565519108	chr7:100637141-100637142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577316997	chr7:100637157-100637158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541523555	chr7:100637170-100637171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77621644	chr7:100637193-100637194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530128129	chr7:100637201-100637202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370433124	chr7:100637212-100637213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189132171	chr7:100637213-100637214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563334052	chr7:100637232-100637233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531548550	chr7:100637237-100637238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113140156	chr7:100637238-100637239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549618251	chr7:100637241-100637242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100633200-100637800	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr7:100635400-100660000	Weak transcription	Gastric	stomach
3	chr7:100635600-100648200	Weak transcription	Colonic Mucosa	Colon
4	chr7:100635800-100660000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:100635800-100660200	Weak transcription	Right Atrium	heart
6	chr7:100636400-100642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:100636400-100647800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:100637800-100641800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:100641800-100644000	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr7:100642400-100643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:100642600-100643600	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:100642800-100643400	Weak transcription	Fetal Intestine Small	intestine
13	chr7:100643200-100643600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:100643200-100643600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:100643200-100643600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:100643400-100643600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:100643400-100643800	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr7:100643600-100647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:100643800-100655400	Weak transcription	Fetal Intestine Small	intestine
20	chr7:100644000-100647800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:100647800-100650000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:100647800-100659000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr7:100647800-100660200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr7:100648200-100648400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:100648200-100648800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:100648200-100648800	Strong transcription	Colonic Mucosa	Colon
27	chr7:100648400-100648600	Enhancers	Spleen	Spleen

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