Variant report

Variant	esv3428810
Chromosome Location	chr7:100646576-100648181
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:

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

Variant related genes	Relation type
ENSG00000227053	chromatin interactions
ENSG00000205277	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201150842	chr7:100646580-100646581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560820955	chr7:100646611-100646612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112972850	chr7:100646616-100646617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113472131	chr7:100646625-100646626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368216080	chr7:100646658-100646659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531617526	chr7:100646659-100646660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200677205	chr7:100646666-100646667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201215461	chr7:100646679-100646680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549751973	chr7:100646683-100646684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571417241	chr7:100646690-100646691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532112853	chr7:100646701-100646702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200964046	chr7:100646712-100646713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547477507	chr7:100646721-100646722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200153236	chr7:100646729-100646730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113714864	chr7:100646747-100646748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536228269	chr7:100646751-100646752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111576591	chr7:100646776-100646777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554579767	chr7:100646808-100646809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112781914	chr7:100646824-100646825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200696291	chr7:100646843-100646844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371042156	chr7:100646846-100646847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374200754	chr7:100646865-100646866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201818166	chr7:100646915-100646916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201641808	chr7:100646932-100646933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199993063	chr7:100646938-100646939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537737642	chr7:100646942-100646943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558931062	chr7:100646943-100646944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186890517	chr7:100646957-100646958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577319577	chr7:100646966-100646967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567771349	chr7:100646973-100646974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112087460	chr7:100646974-100646975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112331343	chr7:100646986-100646987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200192632	chr7:100646987-100646988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111312596	chr7:100647015-100647016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574514974	chr7:100647031-100647032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113866118	chr7:100647032-100647033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541855315	chr7:100647060-100647061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140284525	chr7:100647073-100647074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563691747	chr7:100647074-100647075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576305942	chr7:100647123-100647124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201122604	chr7:100647126-100647127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543656819	chr7:100647142-100647143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564943242	chr7:100647158-100647159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201308940	chr7:100647163-100647164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202226352	chr7:100647276-100647277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200489295	chr7:100647308-100647309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112829821	chr7:100647323-100647324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201547856	chr7:100647331-100647332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199551523	chr7:100647338-100647339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200522765	chr7:100647339-100647340	Weak 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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100635400-100660000	Weak transcription	Gastric	stomach
2	chr7:100635600-100648200	Weak transcription	Colonic Mucosa	Colon
3	chr7:100635800-100660000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:100635800-100660200	Weak transcription	Right Atrium	heart
5	chr7:100636400-100647800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:100643600-100647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:100643800-100655400	Weak transcription	Fetal Intestine Small	intestine
8	chr7:100644000-100647800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:100647800-100650000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:100647800-100659000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr7:100647800-100660200	Strong transcription	Rectal Mucosa Donor 31	rectum

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