Variant report

Variant	esv32937
Chromosome Location	chr7:65842976-65844524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190459670	chr7:65842977-65842978	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs550297621	chr7:65842982-65842983	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs3815684	chr7:65842995-65842996	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs535519986	chr7:65843005-65843006	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377326952	chr7:65843039-65843040	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549341940	chr7:65843062-65843063	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568291500	chr7:65843151-65843152	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181633516	chr7:65843161-65843162	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533858843	chr7:65843164-65843165	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553616053	chr7:65843167-65843168	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552512979	chr7:65843169-65843170	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370433495	chr7:65843196-65843197	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560235359	chr7:65843322-65843323	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368009616	chr7:65843328-65843329	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528861012	chr7:65843344-65843345	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548216552	chr7:65843368-65843369	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539200078	chr7:65843378-65843379	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556035293	chr7:65843379-65843380	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576080463	chr7:65843384-65843385	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541497524	chr7:65843389-65843390	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372242729	chr7:65843415-65843416	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141207885	chr7:65843418-65843419	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572034838	chr7:65843457-65843458	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541753908	chr7:65843466-65843467	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62465363	chr7:65843473-65843474	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs562572034	chr7:65843486-65843487	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533610387	chr7:65843499-65843500	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561008843	chr7:65843541-65843542	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550339496	chr7:65843553-65843554	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563665683	chr7:65843565-65843566	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529366222	chr7:65843582-65843583	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573117801	chr7:65843613-65843614	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77855154	chr7:65843621-65843622	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534660624	chr7:65843642-65843643	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547293312	chr7:65843684-65843685	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570411323	chr7:65843709-65843710	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531331557	chr7:65843719-65843720	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539291191	chr7:65843731-65843732	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146950017	chr7:65843741-65843742	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576086187	chr7:65843755-65843756	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138484071	chr7:65843789-65843790	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149602331	chr7:65843799-65843800	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144415011	chr7:65843821-65843822	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541020889	chr7:65843858-65843859	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558529378	chr7:65843865-65843866	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186354320	chr7:65843932-65843933	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191309018	chr7:65843973-65843974	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79229136	chr7:65843974-65843975	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115705490	chr7:65843977-65843978	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543118211	chr7:65843987-65843988	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65805200-65843600	Weak transcription	Aorta	Aorta
2	chr7:65814000-65843800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:65817000-65843400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:65817600-65843200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:65817600-65844200	Weak transcription	Right Atrium	heart
6	chr7:65817600-65844600	Weak transcription	Fetal Brain Female	brain
7	chr7:65818000-65843200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:65819200-65844200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:65822000-65843800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:65823400-65843600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:65824800-65843600	Weak transcription	Esophagus	oesophagus
12	chr7:65825000-65844400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:65825200-65844200	Weak transcription	NHLF	lung
14	chr7:65827000-65843800	Weak transcription	NHEK	skin
15	chr7:65831800-65844200	Weak transcription	NHDF-Ad	bronchial
16	chr7:65832000-65843200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:65832000-65844200	Weak transcription	Fetal Lung	lung
18	chr7:65836400-65843800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:65836600-65846400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:65838400-65843400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:65838800-65844600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:65839000-65844000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:65839000-65844000	Weak transcription	Placenta	Placenta
24	chr7:65839000-65844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:65839200-65843800	Weak transcription	Adipose Nuclei	Adipose
26	chr7:65839400-65843800	Weak transcription	Ovary	ovary
27	chr7:65839400-65844400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:65839400-65844600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:65839600-65843800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:65839800-65843600	Strong transcription	Fetal Stomach	stomach
31	chr7:65839800-65843600	Weak transcription	HMEC	breast
32	chr7:65839800-65843800	Weak transcription	Primary T cells from cord blood	blood
33	chr7:65839800-65844000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:65839800-65844200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:65839800-65844200	Weak transcription	Brain Anterior Caudate	brain
36	chr7:65839800-65845200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:65840000-65843600	Weak transcription	Colonic Mucosa	Colon
38	chr7:65840000-65878400	Weak transcription	Psoas Muscle	Psoas
39	chr7:65840200-65844800	Strong transcription	Fetal Muscle Leg	muscle
40	chr7:65840400-65844400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr7:65840400-65844400	Weak transcription	HepG2	liver
42	chr7:65840400-65873400	Weak transcription	K562	blood
43	chr7:65840600-65858400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:65841000-65843800	Weak transcription	Brain Substantia Nigra	brain
45	chr7:65841200-65843000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:65841200-65843000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:65841200-65843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:65841200-65843800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:65841200-65844000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:65841200-65844200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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