Variant report

Variant	nsv820525
Chromosome Location	chr7:100673368-100686985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:161)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:161 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr7:100674476-100674702	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:100674489-100674653	HepG2	liver:	n/a	n/a
3	CTCF	chr7:100674460-100674610	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr7:100674440-100674590	GM12864	blood:	n/a	n/a
5	CTCF	chr7:100674449-100674647	A549	lung:	n/a	n/a
6	CTCF	chr7:100674480-100674630	Caco-2	colon:	n/a	n/a
7	CTCF	chr7:100674422-100674757	K562	blood:	n/a	n/a
8	CTCF	chr7:100674480-100674630	GM12865	blood:	n/a	n/a
9	CTCF	chr7:100674480-100674630	GM12867	blood:	n/a	n/a
10	CTCF	chr7:100674423-100674722	K562	blood:	n/a	n/a
11	CTCF	chr7:100674460-100674610	K562	blood:	n/a	n/a
12	CTCF	chr7:100674457-100674673	NHEK	skin:	n/a	n/a
13	CTCF	chr7:100674465-100674672	GM12878	blood:	n/a	n/a
14	CTCF	chr7:100674452-100674656	GM19239	blood:	n/a	n/a
15	CTCF	chr7:100674500-100674650	GM12870	blood:	n/a	n/a
16	CTCF	chr7:100674460-100674610	GM12873	blood:	n/a	n/a
17	CTCF	chr7:100674496-100674629	MCF-7	breast:	n/a	n/a
18	CTCF	chr7:100674303-100674797	A549	lung:	n/a	n/a
19	CTCF	chr7:100674520-100674670	GM12866	blood:	n/a	n/a
20	CTCF	chr7:100674300-100674450	RPTEC	kidney:	n/a	n/a
21	CTCF	chr7:100674500-100674650	NHEK	skin:	n/a	n/a
22	CTCF	chr7:100674500-100674650	Caco-2	colon:	n/a	n/a
23	CTCF	chr7:100674489-100674619	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:100674440-100674590	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr7:100674460-100674610	GM12864	blood:	n/a	n/a
26	CTCF	chr7:100674520-100674670	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr7:100674540-100674690	AG09309	skin:	n/a	n/a
28	CTCF	chr7:100674492-100674649	A549	lung:	n/a	n/a
29	CTCF	chr7:100674440-100674590	GM12873	blood:	n/a	n/a
30	CTCF	chr7:100674434-100674600	A549	lung:	n/a	n/a
31	CTCF	chr7:100674520-100674670	GM12865	blood:	n/a	n/a
32	CTCF	chr7:100674480-100674630	GM12872	blood:	n/a	n/a
33	CTCF	chr7:100674364-100674758	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr7:100674520-100674670	HRE	kidney:	n/a	n/a
35	CTCF	chr7:100674480-100674650	LNCaP	prostate:	n/a	n/a
36	CTCF	chr7:100674459-100674676	GM19238	blood:	n/a	n/a
37	CTCF	chr7:100674440-100674590	HMEC	breast:	n/a	n/a
38	CTCF	chr7:100674440-100674590	GM12868	blood:	n/a	n/a
39	CTCF	chr7:100674480-100674630	HepG2	liver:	n/a	n/a
40	CTCF	chr7:100674460-100674610	GM12871	blood:	n/a	n/a
41	CTCF	chr7:100674520-100674670	GM12874	blood:	n/a	n/a
42	CTCF	chr7:100674440-100674590	GM12865	blood:	n/a	n/a
43	CTCF	chr7:100674420-100674570	GM12875	blood:	n/a	n/a
44	CTCF	chr7:100674518-100674609	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:100674460-100674610	GM06990	blood:	n/a	n/a
46	CTCF	chr7:100674360-100674510	GM12864	blood:	n/a	n/a
47	CTCF	chr7:100674472-100674668	GM12892	blood:	n/a	n/a
48	CTCF	chr7:100674380-100674530	A549	lung:	n/a	n/a
49	CTCF	chr7:100674538-100674619	GM10248	blood:	n/a	n/a
50	CTCF	chr7:100674430-100674716	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100673454..100676162-chr7:100684311..100686257,2	MCF-7	breast:
2	chr7:100609315..100609838-chr7:100674119..100674688,2	MCF-7	breast:
3	chr7:100680681..100683090-chr7:100696033..100698246,2	K562	blood:
4	chr7:100673454..100676162-chr7:100684311..100686257,2	MCF-7	breast:
5	chr7:100660835..100663143-chr7:100672938..100674954,2	K562	blood:
6	chr7:100651695..100653589-chr7:100673839..100675756,2	MCF-7	breast:

No data

Variant related genes	Relation type
MUC17	TF binding region
ENSG00000169894	chromatin interactions
ENSG00000169876	chromatin interactions
ENSG00000227053	chromatin interactions

Extended variants
information (count: 1417 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1417 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564578162	chr7:100673483-100673484	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373319600	chr7:100673511-100673512	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs57980303	chr7:100673512-100673513	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs397798132	chr7:100673527-100673528	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146366934	chr7:100673534-100673535	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375122647	chr7:100673549-100673550	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139726677	chr7:100673575-100673576	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529974668	chr7:100673593-100673594	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375551311	chr7:100673612-100673613	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548486974	chr7:100673725-100673726	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563403340	chr7:100673728-100673729	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111733652	chr7:100673796-100673797	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10224903	chr7:100673811-100673812	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144508864	chr7:100673826-100673827	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550596368	chr7:100673844-100673845	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570106100	chr7:100673880-100673881	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10225024	chr7:100673893-100673894	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10254720	chr7:100673920-100673921	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535076223	chr7:100673942-100673943	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142517569	chr7:100673945-100673946	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549527270	chr7:100673949-100673950	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs28485568	chr7:100673954-100673955	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373879115	chr7:100673976-100673977	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558376482	chr7:100674026-100674027	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147633451	chr7:100674079-100674080	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540710620	chr7:100674108-100674109	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567734461	chr7:100674139-100674140	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368127946	chr7:100674144-100674145	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569083458	chr7:100674156-100674157	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs573995108	chr7:100674157-100674158	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191374957	chr7:100674175-100674176	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs115812048	chr7:100674179-100674180	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs530710992	chr7:100674194-100674195	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140615315	chr7:100674235-100674236	Enhancers Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374009103	chr7:100674240-100674241	Enhancers Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183472916	chr7:100674252-100674253	Enhancers Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535493106	chr7:100674254-100674255	Enhancers Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534922898	chr7:100674261-100674262	Enhancers Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs80250975	chr7:100674309-100674310	Enhancers Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550305993	chr7:100674457-100674458	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs139454683	chr7:100674464-100674465	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs201971170	chr7:100674466-100674467	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs144369997	chr7:100674467-100674468	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs374703099	chr7:100674492-100674493	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558418877	chr7:100674521-100674522	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs377521393	chr7:100674533-100674534	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112089218	chr7:100674543-100674544	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs539367677	chr7:100674549-100674550	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs574004531	chr7:100674564-100674565	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs544640289	chr7:100674580-100674581	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100661000-100676800	Weak transcription	Right Atrium	heart
2	chr7:100661000-100684200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:100668000-100673600	Weak transcription	Fetal Intestine Large	intestine
4	chr7:100668400-100674200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:100669800-100675800	Strong transcription	Fetal Intestine Small	intestine
6	chr7:100672200-100702400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr7:100673600-100676800	Strong transcription	Fetal Intestine Large	intestine
8	chr7:100674200-100674400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr7:100674200-100674400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:100674200-100674800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr7:100674200-100687000	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr7:100674800-100685400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:100675800-100687200	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr7:100676800-100680800	ZNF genes & repeats	Fetal Intestine Large	intestine
15	chr7:100678200-100678400	Active TSS	Spleen	Spleen
16	chr7:100678400-100679800	Weak transcription	Spleen	Spleen
17	chr7:100678800-100679400	Active TSS	Brain Substantia Nigra	brain
18	chr7:100679400-100682800	Weak transcription	Small Intestine	intestine
19	chr7:100680400-100681000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:100680600-100681000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:100680800-100682800	Strong transcription	Fetal Intestine Large	intestine
22	chr7:100682800-100683200	Strong transcription	Small Intestine	intestine
23	chr7:100682800-100687200	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr7:100683200-100686600	Weak transcription	Small Intestine	intestine
25	chr7:100685200-100685800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:100685400-100686000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
27	chr7:100685800-100686200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
28	chr7:100686000-100686800	ZNF genes & repeats	Fetal Brain Female	brain
29	chr7:100686000-100691200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:100686600-100687000	ZNF genes & repeats	Pancreas	Pancrea

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