Variant report

Variant	nsv607971
Chromosome Location	chr7:100635143-100648117
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
2	lnc-ACHE-6	chr7:100643354-100643800	NONHSAT122434

Variant related genes	Relation type
ENSG00000205277	chromatin interactions
ENSG00000227053	chromatin interactions

Extended variants
information (count: 690 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34337783	chr7:100635143-100635144	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569739861	chr7:100635148-100635149	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs537118254	chr7:100635181-100635182	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs558617898	chr7:100635183-100635184	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs369253572	chr7:100635187-100635188	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs145648974	chr7:100635193-100635194	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs201668961	chr7:100635199-100635200	ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs535373112	chr7:100635204-100635205	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4729631	chr7:100635205-100635206	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112934443	chr7:100635206-100635207	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542032427	chr7:100635207-100635208	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138453123	chr7:100635210-100635211	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575368158	chr7:100635211-100635212	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368848717	chr7:100635217-100635218	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564189766	chr7:100635229-100635230	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371399149	chr7:100635236-100635237	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12533349	chr7:100635238-100635239	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201703872	chr7:100635250-100635251	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559349492	chr7:100635257-100635258	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377544222	chr7:100635267-100635268	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548110192	chr7:100635268-100635269	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201999213	chr7:100635287-100635288	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569850146	chr7:100635289-100635290	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370794930	chr7:100635291-100635292	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199890519	chr7:100635311-100635312	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552297034	chr7:100635321-100635322	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375833117	chr7:100635334-100635335	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112372129	chr7:100635336-100635337	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534288995	chr7:100635363-100635364	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372074826	chr7:100635364-100635365	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553651662	chr7:100635367-100635368	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568688751	chr7:100635368-100635369	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374754662	chr7:100635370-100635371	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10808115	chr7:100635375-100635376	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377054311	chr7:100635386-100635387	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557175135	chr7:100635392-100635393	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371902299	chr7:100635393-100635394	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375840821	chr7:100635395-100635396	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545897755	chr7:100635403-100635404	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371055512	chr7:100635409-100635410	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573203514	chr7:100635419-100635420	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370201444	chr7:100635423-100635424	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540233399	chr7:100635430-100635431	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562088876	chr7:100635433-100635434	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371869917	chr7:100635466-100635467	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375168389	chr7:100635506-100635507	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369142913	chr7:100635515-100635516	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563519760	chr7:100635520-100635521	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530675685	chr7:100635523-100635524	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374084598	chr7:100635531-100635532	ZNF genes & repeats Strong transcription 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:35 , 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	chr7:100633400-100635400	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr7:100633400-100636400	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:100634200-100635600	Strong transcription	Colonic Mucosa	Colon
5	chr7:100634800-100635800	ZNF genes & repeats	Spleen	Spleen
6	chr7:100635000-100635200	Bivalent Enhancer	Fetal Stomach	stomach
7	chr7:100635000-100635400	ZNF genes & repeats	Gastric	stomach
8	chr7:100635000-100635800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:100635000-100635800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
10	chr7:100635000-100635800	ZNF genes & repeats	Right Atrium	heart
11	chr7:100635400-100635800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
12	chr7:100635400-100660000	Weak transcription	Gastric	stomach
13	chr7:100635600-100635800	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:100635600-100648200	Weak transcription	Colonic Mucosa	Colon
15	chr7:100635800-100636400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr7:100635800-100660000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:100635800-100660200	Weak transcription	Right Atrium	heart
18	chr7:100636400-100642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:100636400-100647800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:100637800-100641800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:100641800-100644000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr7:100642400-100643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:100642600-100643600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:100642800-100643400	Weak transcription	Fetal Intestine Small	intestine
25	chr7:100643200-100643600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:100643200-100643600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:100643200-100643600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:100643400-100643600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:100643400-100643800	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr7:100643600-100647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:100643800-100655400	Weak transcription	Fetal Intestine Small	intestine
32	chr7:100644000-100647800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:100647800-100650000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:100647800-100659000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr7:100647800-100660200	Strong transcription	Rectal Mucosa Donor 31	rectum

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