Variant report

Variant	esv275068
Chromosome Location	chr7:21966107-21980773
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	chr7:21976274..21979675-chr7:21983626..21985633,3	MCF-7	breast:
2	chr7:21980188..21982336-chr7:21983683..21985760,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164649	chromatin interactions

Extended variants
information (count: 677 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:677 , 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	rs558904716	chr7:21966129-21966130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149423897	chr7:21966139-21966140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550938125	chr7:21966184-21966185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375712030	chr7:21966220-21966221	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs12673256	chr7:21966273-21966274	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs539742729	chr7:21966285-21966286	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144848904	chr7:21966305-21966306	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs11427172	chr7:21966320-21966321	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112142434	chr7:21966321-21966322	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs550478071	chr7:21966324-21966325	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs398003954	chr7:21966331-21966332	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs73281732	chr7:21966334-21966335	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188371075	chr7:21966374-21966375	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs555702513	chr7:21966382-21966383	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs574450434	chr7:21966406-21966407	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs10950883	chr7:21966417-21966418	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs575898488	chr7:21966430-21966431	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs556905848	chr7:21966445-21966446	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs576958900	chr7:21966486-21966487	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545817446	chr7:21966505-21966506	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12539984	chr7:21966525-21966526	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs10261926	chr7:21966542-21966543	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541986476	chr7:21966557-21966558	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs555937158	chr7:21966578-21966579	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs114588421	chr7:21966580-21966581	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531025644	chr7:21966646-21966647	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112448192	chr7:21966703-21966704	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564893231	chr7:21966707-21966708	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12532102	chr7:21966708-21966709	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs180884339	chr7:21966709-21966710	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546607185	chr7:21966712-21966713	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73281737	chr7:21966731-21966732	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147257281	chr7:21966737-21966738	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539756716	chr7:21966786-21966787	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569390424	chr7:21966791-21966792	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373626622	chr7:21966802-21966803	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537146266	chr7:21966807-21966808	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556734822	chr7:21966820-21966821	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189509052	chr7:21966908-21966909	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539412659	chr7:21966911-21966912	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558302604	chr7:21966921-21966922	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144754301	chr7:21966928-21966929	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201465905	chr7:21966940-21966941	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1581694	chr7:21966979-21966980	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147608615	chr7:21966992-21966993	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370596998	chr7:21967046-21967047	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs575301954	chr7:21967078-21967079	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539229877	chr7:21967083-21967084	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs115485602	chr7:21967100-21967101	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs573385722	chr7:21967172-21967173	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21938600-21984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:21948800-21981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:21951600-21982600	Weak transcription	HSMM	muscle
4	chr7:21952600-21977400	Weak transcription	NHDF-Ad	bronchial
5	chr7:21954800-21966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:21954800-21970400	Weak transcription	Liver	Liver
7	chr7:21954800-21971800	Weak transcription	Gastric	stomach
8	chr7:21955000-21967400	Weak transcription	Fetal Intestine Small	intestine
9	chr7:21955000-21969800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:21955000-21979000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:21955000-21979200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:21955000-21979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:21955000-21981000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:21955200-21967800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:21956000-21966200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:21956000-21976400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:21956000-21981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:21956200-21967200	Weak transcription	Thymus	Thymus
19	chr7:21956200-21967400	Weak transcription	Fetal Stomach	stomach
20	chr7:21956200-21976800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:21956400-21980200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:21956600-21966400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:21956600-21967400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:21956600-21970000	Weak transcription	Fetal Thymus	thymus
25	chr7:21956600-21983600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:21956800-21966600	Weak transcription	NHEK	skin
27	chr7:21959800-21967000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:21959800-21973800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr7:21961200-21967600	Weak transcription	Right Ventricle	heart
30	chr7:21961400-21967200	Weak transcription	Primary T cells from cord blood	blood
31	chr7:21961600-21966200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:21962200-21967200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:21963200-21967400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:21963400-21967400	Weak transcription	Left Ventricle	heart
35	chr7:21963400-21979200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:21963600-21967400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:21963600-21968000	Weak transcription	Psoas Muscle	Psoas
38	chr7:21963600-21983600	Weak transcription	Ovary	ovary
39	chr7:21964000-21979200	Weak transcription	Hela-S3	cervix
40	chr7:21964200-21967200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:21964200-21967200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:21964200-21977400	Weak transcription	HUVEC	blood vessel
43	chr7:21964400-21966600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:21964600-21966200	Weak transcription	Primary B cells from cord blood	blood
45	chr7:21964800-21967000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:21965000-21967000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:21965000-21967200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:21965000-21967200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:21965000-21967200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:21965000-21967400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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