Variant report

Variant	esv1426303
Chromosome Location	chr7:100639019-100647518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 303 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202002951	chr7:100639022-100639023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546226542	chr7:100639026-100639027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28459498	chr7:100639040-100639041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56357244	chr7:100639049-100639050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529593592	chr7:100639052-100639053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550818435	chr7:100639053-100639054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56353590	chr7:100639054-100639055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28483629	chr7:100639066-100639067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71557212	chr7:100639095-100639096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28585369	chr7:100639112-100639113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71557213	chr7:100639139-100639140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201573217	chr7:100639147-100639148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202107976	chr7:100639153-100639154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375638938	chr7:100639155-100639156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202193749	chr7:100639157-100639158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200381069	chr7:100639160-100639161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372961356	chr7:100639161-100639162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200375956	chr7:100639177-100639178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200024563	chr7:100639203-100639204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557653998	chr7:100639221-100639222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572935400	chr7:100639222-100639223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539940283	chr7:100639232-100639233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200282749	chr7:100639259-100639260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111685361	chr7:100639275-100639276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201652372	chr7:100639320-100639321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377528587	chr7:100639339-100639340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200583897	chr7:100639356-100639357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201580319	chr7:100639388-100639389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184399442	chr7:100639403-100639404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199726057	chr7:100639411-100639412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200702634	chr7:100639418-100639419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201905745	chr7:100639419-100639420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199764232	chr7:100639456-100639457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200706642	chr7:100639481-100639482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199570440	chr7:100639540-100639541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199876181	chr7:100639558-100639559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189326319	chr7:100639574-100639575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201899861	chr7:100639710-100639711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137877084	chr7:100639799-100639800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528815589	chr7:100639865-100639866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544516508	chr7:100639892-100639893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201009895	chr7:100639915-100639916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142311713	chr7:100639937-100639938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563167275	chr7:100639951-100639952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533434429	chr7:100639955-100639956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201648150	chr7:100639971-100639972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551983789	chr7:100639989-100639990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200367091	chr7:100640021-100640022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200916049	chr7:100640121-100640122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201830180	chr7:100640257-100640258	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:19 , 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	chr7:100636400-100642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:100636400-100647800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:100637800-100641800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:100641800-100644000	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr7:100642400-100643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:100642600-100643600	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:100642800-100643400	Weak transcription	Fetal Intestine Small	intestine
12	chr7:100643200-100643600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:100643200-100643600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:100643200-100643600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:100643400-100643600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:100643400-100643800	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr7:100643600-100647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:100643800-100655400	Weak transcription	Fetal Intestine Small	intestine
19	chr7:100644000-100647800	Weak transcription	Rectal Mucosa Donor 31	rectum

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