Variant report

Variant	esv3452158
Chromosome Location	chr7:105373900-105374171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528096167	chr7:105373936-105373937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs67617358	chr7:105373937-105373938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs200115510	chr7:105373949-105373950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71540962	chr7:105373950-105373951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71540963	chr7:105373952-105373953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148406030	chr7:105373963-105373964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67969158	chr7:105373976-105373977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201432708	chr7:105373979-105373980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199716837	chr7:105373980-105373981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112403632	chr7:105373981-105373982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200778073	chr7:105373987-105373988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201736107	chr7:105373991-105373992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77132874	chr7:105374000-105374001	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs75117605	chr7:105374003-105374004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs71540964	chr7:105374014-105374015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs71540965	chr7:105374016-105374017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs367740494	chr7:105374035-105374036	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs71540966	chr7:105374040-105374041	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371529375	chr7:105374051-105374052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145677112	chr7:105374055-105374056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs71540967	chr7:105374060-105374061	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs71540968	chr7:105374071-105374072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs140041599	chr7:105374075-105374076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs55676392	chr7:105374079-105374080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs368941231	chr7:105374083-105374084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376851262	chr7:105374087-105374088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs377197169	chr7:105374095-105374096	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs71540969	chr7:105374099-105374100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs71540970	chr7:105374103-105374104	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs71540971	chr7:105374107-105374108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147785233	chr7:105374111-105374112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs71540972	chr7:105374114-105374115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376815088	chr7:105374119-105374120	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200163430	chr7:105374124-105374125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs111203740	chr7:105374127-105374128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs111203741	chr7:105374145-105374146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs71540973	chr7:105374148-105374149	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376455784	chr7:105374171-105374172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105349000-105374800	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:105352600-105388600	Weak transcription	Aorta	Aorta
3	chr7:105352800-105383000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:105352800-105383800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:105352800-105392400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:105353400-105374000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:105354000-105374800	Weak transcription	Spleen	Spleen
8	chr7:105354400-105382400	Weak transcription	Primary T cells from cord blood	blood
9	chr7:105354400-105390000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:105354400-105399800	Weak transcription	Ovary	ovary
11	chr7:105354600-105392000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:105354800-105387600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:105355000-105401000	Weak transcription	NHEK	skin
14	chr7:105355800-105381800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:105357200-105379200	Weak transcription	Thymus	Thymus
16	chr7:105359400-105374800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:105359800-105406200	Weak transcription	Gastric	stomach
18	chr7:105359800-105438600	Weak transcription	Pancreas	Pancrea
19	chr7:105360000-105391400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:105360400-105382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:105360600-105375000	Weak transcription	NHLF	lung
22	chr7:105360600-105388200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:105360800-105406200	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:105361200-105394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:105362000-105381400	Weak transcription	Fetal Intestine Small	intestine
26	chr7:105362400-105374800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:105362800-105375000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:105362800-105383800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:105363400-105374800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:105364400-105383800	Weak transcription	Lung	lung
31	chr7:105364400-105402000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:105364600-105374600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:105364600-105375000	Weak transcription	Fetal Stomach	stomach
34	chr7:105364600-105390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:105364600-105393000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:105364600-105416400	Weak transcription	Brain Angular Gyrus	brain
37	chr7:105364800-105374800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:105364800-105374800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:105365800-105374800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:105366600-105390200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:105367200-105428800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:105367400-105376200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:105367400-105391600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:105368000-105377800	Weak transcription	Fetal Intestine Large	intestine
45	chr7:105374000-105374400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood

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