Variant report

Variant	nsv366400
Chromosome Location	chr7:100681311-100684493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:100681981-100682055	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr7:100681767-100682198	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr7:100684389-100685174	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr7:100681762-100682239	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr7:100684493-100685072	SK-N-SH	brain:	n/a	n/a
6	REST	chr7:100681830-100682137	PANC-1	pancreas:	n/a	n/a
7	REST	chr7:100683205-100683516	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr7:100681805-100682196	SK-N-SH	brain:	n/a	n/a
9	REST	chr7:100684480-100685026	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr7:100682022-100682182	K562	blood:	n/a	n/a
11	REST	chr7:100684479-100685048	PFSK-1	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100680681..100683090-chr7:100696033..100698246,2	K562	blood:
2	chr7:100673454..100676162-chr7:100684311..100686257,2	MCF-7	breast:

No data

Variant related genes	Relation type
MUC17	TF binding region
ENSG00000169876	chromatin interactions

Extended variants
information (count: 391 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201412788	chr7:100681317-100681318	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557614802	chr7:100681320-100681321	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572884234	chr7:100681327-100681328	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539881448	chr7:100681340-100681341	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139022588	chr7:100681343-100681344	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142097516	chr7:100681345-100681346	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146364763	chr7:100681351-100681352	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528861361	chr7:100681358-100681359	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11979706	chr7:100681359-100681360	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149582193	chr7:100681363-100681364	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144296263	chr7:100681366-100681367	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148707760	chr7:100681367-100681368	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144624588	chr7:100681373-100681374	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147628791	chr7:100681380-100681381	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148470778	chr7:100681388-100681389	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140606802	chr7:100681390-100681391	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144558587	chr7:100681391-100681392	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551944763	chr7:100681401-100681402	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201523803	chr7:100681407-100681408	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199804993	chr7:100681409-100681410	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs151191369	chr7:100681414-100681415	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375822527	chr7:100681415-100681416	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566889208	chr7:100681430-100681431	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201002287	chr7:100681444-100681445	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549040258	chr7:100681445-100681446	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201993929	chr7:100681449-100681450	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77440980	chr7:100681453-100681454	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144955715	chr7:100681460-100681461	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537806384	chr7:100681490-100681491	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144607125	chr7:100681491-100681492	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138553272	chr7:100681503-100681504	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116767656	chr7:100681510-100681511	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569127727	chr7:100681520-100681521	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200051293	chr7:100681530-100681531	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557918100	chr7:100681541-100681542	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572878505	chr7:100681542-100681543	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540344431	chr7:100681546-100681547	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555461787	chr7:100681548-100681549	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573682995	chr7:100681566-100681567	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370654592	chr7:100681574-100681575	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145908994	chr7:100681584-100681585	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148131967	chr7:100681603-100681604	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs137882593	chr7:100681605-100681606	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563215646	chr7:100681612-100681613	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533663885	chr7:100681619-100681620	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11979768	chr7:100681627-100681628	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11983379	chr7:100681630-100681631	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375199667	chr7:100681634-100681635	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139907432	chr7:100681636-100681637	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574475018	chr7:100681650-100681651	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100661000-100684200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:100672200-100702400	Strong transcription	Duodenum Mucosa	Duodenum
3	chr7:100674200-100687000	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr7:100674800-100685400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:100675800-100687200	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr7:100679400-100682800	Weak transcription	Small Intestine	intestine
7	chr7:100680800-100682800	Strong transcription	Fetal Intestine Large	intestine
8	chr7:100682800-100683200	Strong transcription	Small Intestine	intestine
9	chr7:100682800-100687200	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr7:100683200-100686600	Weak transcription	Small Intestine	intestine

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