Variant report

Variant	esv1844754
Chromosome Location	chr7:100674762-100686561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

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	CTCF	chr7:100674303-100674797	A549	lung:	n/a	n/a
3	MYC	chr7:100677898-100678026	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr7:100681981-100682055	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:100674423-100675483	K562	blood:	n/a	n/a
6	POLR2A	chr7:100676902-100676935	K562	blood:	n/a	n/a
7	POLR2A	chr7:100676007-100676032	K562	blood:	n/a	n/a
8	RAD21	chr7:100674316-100674784	A549	lung:	n/a	n/a
9	RAD21	chr7:100674232-100674764	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr7:100684572-100684919	HepG2	liver:	n/a	n/a
11	REST	chr7:100679166-100679548	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr7:100684389-100685174	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr7:100678050-100678264	K562	blood:	n/a	n/a
14	REST	chr7:100684578-100684841	ECC-1	luminal epithelium:	n/a	n/a
15	REST	chr7:100684563-100684868	Hela-S3	cervix:	n/a	n/a
16	REST	chr7:100681767-100682198	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr7:100684564-100684944	Hela-S3	cervix:	n/a	n/a
18	REST	chr7:100684544-100685194	PANC-1	pancreas:	n/a	n/a
19	REST	chr7:100683205-100683516	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr7:100684729-100684973	PANC-1	pancreas:	n/a	n/a
21	REST	chr7:100675909-100676912	H1-hESC	embryonic stem cell:	n/a	n/a
22	REST	chr7:100680550-100681016	K562	blood:	n/a	n/a
23	REST	chr7:100675908-100676229	K562	blood:	n/a	n/a
24	REST	chr7:100684559-100684937	PFSK-1	brain:	n/a	n/a
25	REST	chr7:100684674-100684838	HepG2	liver:	n/a	n/a
26	REST	chr7:100684631-100684910	HCT-116	colon:	n/a	n/a
27	REST	chr7:100676276-100676572	K562	blood:	n/a	n/a
28	REST	chr7:100684480-100685026	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr7:100684664-100684817	K562	blood:	n/a	n/a
30	REST	chr7:100684540-100685088	A549	lung:	n/a	n/a
31	REST	chr7:100685175-100685426	H1-hESC	embryonic stem cell:	n/a	n/a
32	REST	chr7:100681762-100682239	H1-hESC	embryonic stem cell:	n/a	n/a
33	REST	chr7:100684634-100684878	MCF-7	breast:	n/a	n/a
34	REST	chr7:100684534-100685058	K562	blood:	n/a	n/a
35	REST	chr7:100676273-100676660	MCF-7	breast:	n/a	n/a
36	REST	chr7:100684493-100685072	SK-N-SH	brain:	n/a	n/a
37	REST	chr7:100676375-100676570	Hela-S3	cervix:	n/a	n/a
38	REST	chr7:100681805-100682196	SK-N-SH	brain:	n/a	n/a
39	REST	chr7:100684479-100685048	PFSK-1	brain:	n/a	n/a
40	REST	chr7:100680291-100680966	MCF-7	breast:	n/a	n/a
41	REST	chr7:100680209-100680950	H1-hESC	embryonic stem cell:	n/a	n/a
42	REST	chr7:100679339-100679556	K562	blood:	n/a	n/a
43	REST	chr7:100684645-100684828	GM12878	blood:	n/a	n/a
44	REST	chr7:100684618-100684946	MCF-7	breast:	n/a	n/a
45	REST	chr7:100680448-100680787	H1-hESC	embryonic stem cell:	n/a	n/a
46	REST	chr7:100677897-100678341	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr7:100682022-100682182	K562	blood:	n/a	n/a
48	REST	chr7:100685196-100685352	K562	blood:	n/a	n/a
49	REST	chr7:100679150-100679527	H1-hESC	embryonic stem cell:	n/a	n/a
50	REST	chr7:100675992-100676713	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1328 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1328 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574919314	chr7:100674785-100674786	Bivalent Enhancer Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375185028	chr7:100674848-100674849	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370245050	chr7:100674864-100674865	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs367870825	chr7:100674865-100674866	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372190431	chr7:100674879-100674880	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561822323	chr7:100674880-100674881	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528973575	chr7:100674881-100674882	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569484493	chr7:100674889-100674890	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79976119	chr7:100674896-100674897	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200871012	chr7:100674899-100674900	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139762740	chr7:100674955-100674956	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367792915	chr7:100674963-100674964	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144349602	chr7:100674978-100674979	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146605853	chr7:100674993-100674994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113885736	chr7:100674999-100675000	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113023465	chr7:100675000-100675001	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140150533	chr7:100675023-100675024	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372743652	chr7:100675039-100675040	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375199666	chr7:100675052-100675053	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201566918	chr7:100675064-100675065	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151280870	chr7:100675082-100675083	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375764950	chr7:100675100-100675101	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370094020	chr7:100675101-100675102	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76440115	chr7:100675128-100675129	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115500432	chr7:100675132-100675133	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371869918	chr7:100675133-100675134	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375249312	chr7:100675135-100675136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567129894	chr7:100675136-100675137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542185793	chr7:100675152-100675153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200331855	chr7:100675159-100675160	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111227419	chr7:100675164-100675165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199776258	chr7:100675175-100675176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369222127	chr7:100675178-100675179	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567787391	chr7:100675181-100675182	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537936932	chr7:100675197-100675198	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372923916	chr7:100675227-100675228	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375655258	chr7:100675242-100675243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141443818	chr7:100675251-100675252	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147023140	chr7:100675284-100675285	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556547867	chr7:100675297-100675298	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371729341	chr7:100675325-100675326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560663109	chr7:100675351-100675352	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116801454	chr7:100675367-100675368	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143664405	chr7:100675374-100675375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143067910	chr7:100675375-100675376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10229731	chr7:100675376-100675377	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201467055	chr7:100675393-100675394	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540080829	chr7:100675419-100675420	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533363722	chr7:100675447-100675448	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368840848	chr7:100675451-100675452	Strong transcription Weak transcription	n/a	n/a	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:25 , 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	chr7:100674200-100674800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr7:100674200-100687000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr7:100674800-100685400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:100675800-100687200	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr7:100676800-100680800	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr7:100678200-100678400	Active TSS	Spleen	Spleen
12	chr7:100678400-100679800	Weak transcription	Spleen	Spleen
13	chr7:100678800-100679400	Active TSS	Brain Substantia Nigra	brain
14	chr7:100679400-100682800	Weak transcription	Small Intestine	intestine
15	chr7:100680400-100681000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:100680600-100681000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:100680800-100682800	Strong transcription	Fetal Intestine Large	intestine
18	chr7:100682800-100683200	Strong transcription	Small Intestine	intestine
19	chr7:100682800-100687200	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr7:100683200-100686600	Weak transcription	Small Intestine	intestine
21	chr7:100685200-100685800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:100685400-100686000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
23	chr7:100685800-100686200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
24	chr7:100686000-100686800	ZNF genes & repeats	Fetal Brain Female	brain
25	chr7:100686000-100691200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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