Variant report

Variant	esv33975
Chromosome Location	chr7:146968440-146991336
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	chr7:146989620..146992429-chr7:146994596..146997108,3	K562	blood:

Extended variants
information (count: 260 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556666971	chr7:146968495-146968496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567955316	chr7:146968497-146968498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141073227	chr7:146968558-146968559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553740338	chr7:146968587-146968588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577091998	chr7:146968600-146968601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111426217	chr7:146968608-146968609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188029400	chr7:146968628-146968629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150251261	chr7:146968641-146968642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576350552	chr7:146968652-146968653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112197193	chr7:146968667-146968668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115075396	chr7:146968756-146968757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140656951	chr7:146968808-146968809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144704566	chr7:146968854-146968855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192546534	chr7:146968865-146968866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533430572	chr7:146968877-146968878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113577692	chr7:146968878-146968879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112471219	chr7:146968904-146968905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529486071	chr7:146968941-146968942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547940067	chr7:146968951-146968952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568153373	chr7:146968966-146968967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117837418	chr7:146973415-146973416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550208886	chr7:146973427-146973428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558270874	chr7:146973462-146973463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541750733	chr7:146973466-146973467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568473130	chr7:146973475-146973476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182268338	chr7:146973502-146973503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554539337	chr7:146973571-146973572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574692509	chr7:146973583-146973584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540194207	chr7:146973584-146973585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553989308	chr7:146973591-146973592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377296948	chr7:146973634-146973635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370597364	chr7:146973642-146973643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112603106	chr7:146973654-146973655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546312962	chr7:146973676-146973677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375308733	chr7:146973678-146973679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113779666	chr7:146973699-146973700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576327561	chr7:146973723-146973724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533574025	chr7:146973724-146973725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78052659	chr7:146973743-146973744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112302118	chr7:146973761-146973762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527961760	chr7:146973801-146973802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547729917	chr7:146973837-146973838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564329886	chr7:146973842-146973843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533357428	chr7:146973851-146973852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570459380	chr7:146973873-146973874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557402460	chr7:146973900-146973901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551808772	chr7:146973912-146973913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186761489	chr7:146973918-146973919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568668465	chr7:146973923-146973924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143297393	chr7:146973932-146973933	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146968400-146969000	Enhancers	Fetal Lung	lung
2	chr7:146973400-146974400	Enhancers	Fetal Brain Female	brain
3	chr7:146973800-146974200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:146974000-146974200	Enhancers	Brain Cingulate Gyrus	brain
5	chr7:146974000-146974400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:146974000-146974400	Enhancers	Brain Anterior Caudate	brain
7	chr7:146974000-146974400	Enhancers	Fetal Brain Male	brain
8	chr7:146974000-146974800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:146974200-146976600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:146974400-146976600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:146974400-146976800	Weak transcription	Brain Anterior Caudate	brain
12	chr7:146974800-146976800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:146976400-146976600	Enhancers	Brain Angular Gyrus	brain
14	chr7:146976600-146976800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:146976600-146977000	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr7:146976600-146977000	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr7:146976600-146977400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:146976600-146977600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:146976600-146977600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:146976800-146977000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:146976800-146977200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:146976800-146977200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:146976800-146977200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:146976800-146977400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:146976800-146977400	Active TSS	Brain Hippocampus Middle	brain
26	chr7:146976800-146977600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:146976800-146977600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:146976800-146977600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:146976800-146977600	Active TSS	Brain Anterior Caudate	brain
30	chr7:146976800-146977600	Enhancers	Fetal Lung	lung
31	chr7:146976800-146977800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr7:146976800-146977800	Active TSS	Brain Substantia Nigra	brain
33	chr7:146976800-146978000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr7:146977000-146977400	Active TSS	Brain Angular Gyrus	brain
35	chr7:146977000-146977600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:146977000-146978000	Active TSS	Brain Cingulate Gyrus	brain
37	chr7:146977200-146977600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:146977200-146977600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:146977200-146977600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:146977400-146978200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:146977600-146977800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:146977600-146979400	Enhancers	Brain Anterior Caudate	brain
43	chr7:146978000-146978200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:146978200-146978400	Enhancers	Brain Angular Gyrus	brain
45	chr7:146985000-146985800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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