Variant report

Variant	esv1815393
Chromosome Location	chr7:100675733-100684184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:100678078-100678144	Kidney_OC	kidney:	n/a	n/a
2	MYC	chr7:100681981-100682055	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr7:100677898-100678026	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:100676007-100676032	K562	blood:	n/a	n/a
5	POLR2A	chr7:100676902-100676935	K562	blood:	n/a	n/a
6	REST	chr7:100679339-100679556	K562	blood:	n/a	n/a
7	REST	chr7:100680291-100680966	MCF-7	breast:	n/a	n/a
8	REST	chr7:100681805-100682196	SK-N-SH	brain:	n/a	n/a
9	REST	chr7:100681063-100681309	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr7:100681762-100682239	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr7:100682022-100682182	K562	blood:	n/a	n/a
12	REST	chr7:100675909-100676912	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr7:100677897-100678341	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr7:100676273-100676660	MCF-7	breast:	n/a	n/a
15	REST	chr7:100681830-100682137	PANC-1	pancreas:	n/a	n/a
16	REST	chr7:100678050-100678264	K562	blood:	n/a	n/a
17	REST	chr7:100677777-100678270	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr7:100679166-100679548	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr7:100683205-100683516	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr7:100675908-100676229	K562	blood:	n/a	n/a
21	REST	chr7:100680209-100680950	H1-hESC	embryonic stem cell:	n/a	n/a
22	REST	chr7:100680448-100680787	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr7:100681767-100682198	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr7:100676375-100676570	Hela-S3	cervix:	n/a	n/a
25	REST	chr7:100679150-100679527	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr7:100680550-100681016	K562	blood:	n/a	n/a
27	REST	chr7:100676276-100676572	K562	blood:	n/a	n/a
28	REST	chr7:100675992-100676713	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100651695..100653589-chr7:100673839..100675756,2	MCF-7	breast:
2	chr7:100680681..100683090-chr7:100696033..100698246,2	K562	blood:
3	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: 1050 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1050 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200732180	chr7:100675736-100675737	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538648034	chr7:100675743-100675744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201681377	chr7:100675758-100675759	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150423564	chr7:100675761-100675762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572838572	chr7:100675768-100675769	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144713284	chr7:100675817-100675818	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533826320	chr7:100675825-100675826	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563774308	chr7:100675832-100675833	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374369228	chr7:100675840-100675841	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148536035	chr7:100675858-100675859	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142749514	chr7:100675864-100675865	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368614637	chr7:100675891-100675892	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573772486	chr7:100675906-100675907	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544355810	chr7:100675928-100675929	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202002952	chr7:100675933-100675934	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145279256	chr7:100675940-100675941	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142373606	chr7:100675954-100675955	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201075671	chr7:100675959-100675960	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56103274	chr7:100675976-100675977	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs371965544	chr7:100676007-100676008	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560174964	chr7:100676036-100676037	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113525079	chr7:100676037-100676038	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150144892	chr7:100676110-100676111	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549432526	chr7:100676111-100676112	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189351186	chr7:100676148-100676149	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138416916	chr7:100676153-100676154	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550300233	chr7:100676157-100676158	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148849322	chr7:100676163-100676164	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199702361	chr7:100676193-100676194	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374888125	chr7:100676199-100676200	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs137875150	chr7:100676229-100676230	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371969946	chr7:100676243-100676244	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538733615	chr7:100676262-100676263	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149129669	chr7:100676263-100676264	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146143829	chr7:100676274-100676275	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369461386	chr7:100676307-100676308	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201389667	chr7:100676319-100676320	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555384497	chr7:100676326-100676327	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141499371	chr7:100676357-100676358	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150879291	chr7:100676374-100676375	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537696248	chr7:100676383-100676384	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556385232	chr7:100676398-100676399	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62483735	chr7:100676404-100676405	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34834039	chr7:100676409-100676410	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545102223	chr7:100676417-100676418	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115082361	chr7:100676419-100676420	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147282404	chr7:100676426-100676427	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199591688	chr7:100676436-100676437	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143238633	chr7:100676443-100676444	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144640877	chr7:100676445-100676446	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	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:19 , 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	chr7:100669800-100675800	Strong transcription	Fetal Intestine Small	intestine
4	chr7:100672200-100702400	Strong transcription	Duodenum Mucosa	Duodenum
5	chr7:100673600-100676800	Strong transcription	Fetal Intestine Large	intestine
6	chr7:100674200-100687000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr7:100674800-100685400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:100675800-100687200	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr7:100676800-100680800	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr7:100678200-100678400	Active TSS	Spleen	Spleen
11	chr7:100678400-100679800	Weak transcription	Spleen	Spleen
12	chr7:100678800-100679400	Active TSS	Brain Substantia Nigra	brain
13	chr7:100679400-100682800	Weak transcription	Small Intestine	intestine
14	chr7:100680400-100681000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:100680600-100681000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:100680800-100682800	Strong transcription	Fetal Intestine Large	intestine
17	chr7:100682800-100683200	Strong transcription	Small Intestine	intestine
18	chr7:100682800-100687200	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr7:100683200-100686600	Weak transcription	Small Intestine	intestine

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