Variant report

Variant	esv3373097
Chromosome Location	chr7:7717152-7720300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7704790..7707554-chr7:7715010..7717465,2	K562	blood:
2	chr7:7719627..7722096-chr7:8004642..8007515,2	MCF-7	breast:
3	chr7:7705626..7708031-chr7:7715010..7717688,3	K562	blood:

Extended variants
information (count: 163 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540081876	chr7:7717172-7717173	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558054927	chr7:7717174-7717175	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576703289	chr7:7717190-7717191	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191105733	chr7:7717194-7717195	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555764293	chr7:7717285-7717286	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555992853	chr7:7717291-7717292	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374430522	chr7:7717294-7717295	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141602455	chr7:7717296-7717297	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28823742	chr7:7717300-7717301	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201470216	chr7:7717301-7717302	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13247645	chr7:7717303-7717304	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10252869	chr7:7717304-7717305	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370485453	chr7:7717306-7717307	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538518299	chr7:7717321-7717322	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6975797	chr7:7717374-7717375	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386709957	chr7:7717390-7717391	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376763499	chr7:7717405-7717406	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377198360	chr7:7717495-7717496	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544831076	chr7:7717525-7717526	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563358807	chr7:7717526-7717527	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530695352	chr7:7717540-7717541	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62432575	chr7:7717547-7717548	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369152073	chr7:7717550-7717551	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549014543	chr7:7717551-7717552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142558822	chr7:7717593-7717594	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557135407	chr7:7717599-7717600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529356452	chr7:7717602-7717603	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547806091	chr7:7717627-7717628	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62432576	chr7:7717673-7717674	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542934616	chr7:7717695-7717696	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539920857	chr7:7717733-7717734	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551825750	chr7:7717736-7717737	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570171177	chr7:7717771-7717772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200779380	chr7:7717774-7717775	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71010997	chr7:7717775-7717776	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397707789	chr7:7717781-7717782	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201926427	chr7:7717782-7717783	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200079333	chr7:7717891-7717892	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200083209	chr7:7717892-7717893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200746536	chr7:7717896-7717897	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193033245	chr7:7717917-7717918	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551982524	chr7:7717919-7717920	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146038749	chr7:7717979-7717980	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544427051	chr7:7717980-7717981	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111643520	chr7:7717994-7717995	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534350439	chr7:7717997-7717998	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545168491	chr7:7718091-7718092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62432577	chr7:7718102-7718103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549250265	chr7:7718178-7718179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577187989	chr7:7718187-7718188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	17229543	CNVD
Ovarian cancer	21781307	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7687800-7717400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr7:7691800-7717600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:7692400-7717600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:7693000-7719200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:7694800-7718400	Weak transcription	Ovary	ovary
6	chr7:7702000-7717400	Weak transcription	Fetal Intestine Small	intestine
7	chr7:7703400-7726800	Weak transcription	Brain Germinal Matrix	brain
8	chr7:7704200-7717600	Weak transcription	Fetal Kidney	kidney
9	chr7:7704400-7720800	Weak transcription	Stomach Mucosa	stomach
10	chr7:7704400-7721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:7704400-7726400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:7706800-7743200	Weak transcription	Gastric	stomach
13	chr7:7707000-7719400	Weak transcription	Brain Substantia Nigra	brain
14	chr7:7707800-7718200	Weak transcription	HSMMtube	muscle
15	chr7:7708600-7738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:7708800-7720800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:7709200-7720800	Weak transcription	Psoas Muscle	Psoas
18	chr7:7711600-7717600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:7711600-7720800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:7711600-7726400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:7711800-7721000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:7712400-7717400	Weak transcription	Placenta	Placenta
23	chr7:7712400-7720800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:7712400-7720800	Weak transcription	Dnd41	blood
25	chr7:7712600-7717600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:7712600-7720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:7712800-7717600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:7713000-7717200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:7713000-7717600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:7713600-7717600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:7713600-7720800	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:7713800-7720800	Weak transcription	Brain Angular Gyrus	brain
33	chr7:7714000-7718000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:7714000-7720800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:7714000-7721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:7714200-7720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:7714400-7717600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:7714400-7720800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:7714400-7720800	Weak transcription	Hela-S3	cervix
40	chr7:7714400-7722600	Weak transcription	Thymus	Thymus
41	chr7:7715200-7720800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:7715400-7720600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:7715800-7717200	Weak transcription	GM12878-XiMat	blood
44	chr7:7715800-7717400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:7715800-7717600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:7715800-7718000	Strong transcription	Fetal Thymus	thymus
47	chr7:7715800-7719600	Weak transcription	Lung	lung
48	chr7:7715800-7720800	Weak transcription	Brain Anterior Caudate	brain
49	chr7:7715800-7720800	Weak transcription	Fetal Intestine Large	intestine
50	chr7:7715800-7720800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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