Variant report

Variant	esv5257
Chromosome Location	chr7:61085176-61135838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2433 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2433 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113547154	chr7:61085181-61085182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147305426	chr7:61085183-61085184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540947563	chr7:61085193-61085194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142826296	chr7:61085196-61085197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140363310	chr7:61085198-61085199	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138708296	chr7:61085200-61085201	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150900121	chr7:61085202-61085203	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs189605821	chr7:61085206-61085207	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs180739343	chr7:61085216-61085217	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs62462067	chr7:61085220-61085221	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs200248850	chr7:61085221-61085222	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs565116820	chr7:61085227-61085228	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs201025835	chr7:61085228-61085229	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs186043545	chr7:61085229-61085230	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs113770555	chr7:61085232-61085233	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs201576601	chr7:61085238-61085239	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs199547019	chr7:61085239-61085240	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs200696038	chr7:61085240-61085241	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs562973523	chr7:61085259-61085260	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs112125844	chr7:61085261-61085262	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs529873646	chr7:61085263-61085264	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs199965707	chr7:61085264-61085265	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs62462068	chr7:61085267-61085268	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs541649384	chr7:61085268-61085269	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs62462069	chr7:61085289-61085290	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs560340784	chr7:61085291-61085292	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs62462070	chr7:61085307-61085308	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs527575938	chr7:61085311-61085312	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs113628569	chr7:61085313-61085314	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs202160668	chr7:61085317-61085318	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs199925958	chr7:61085318-61085319	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs10435467	chr7:61085319-61085320	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs367887483	chr7:61085324-61085325	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs549427939	chr7:61085327-61085328	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs201079358	chr7:61085331-61085332	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs567809266	chr7:61085337-61085338	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs190483192	chr7:61085338-61085339	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs535222003	chr7:61085342-61085343	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs554840998	chr7:61085353-61085354	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs143685114	chr7:61085354-61085355	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs139642462	chr7:61085355-61085356	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112491485	chr7:61085356-61085357	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs111614520	chr7:61085358-61085359	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs111729709	chr7:61085360-61085361	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs62462071	chr7:61085367-61085368	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs567084478	chr7:61085368-61085369	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs201246813	chr7:61085371-61085372	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs141983255	chr7:61085373-61085374	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs200400532	chr7:61085379-61085380	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs148680651	chr7:61085382-61085383	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Autism	18414403	CNVD
Colorectal cancer	16272173	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61078800-61086000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:61079000-61085600	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr7:61079000-61085600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:61079000-61085800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:61079000-61086000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr7:61079000-61086000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr7:61079000-61086000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr7:61079800-61085200	Weak transcription	Thymus	Thymus
9	chr7:61079800-61085200	Weak transcription	NHEK	skin
10	chr7:61079800-61085600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr7:61080600-61085800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr7:61080600-61086000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:61080800-61085600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr7:61080800-61085800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr7:61080800-61086000	ZNF genes & repeats	Liver	Liver
16	chr7:61080800-61086000	ZNF genes & repeats	Fetal Brain Male	brain
17	chr7:61083400-61085600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr7:61083400-61085600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:61083400-61086000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:61083800-61085200	Weak transcription	Right Ventricle	heart
21	chr7:61083800-61085200	Weak transcription	NHDF-Ad	bronchial
22	chr7:61084000-61085200	Weak transcription	GM12878-XiMat	blood
23	chr7:61084000-61085200	Weak transcription	NH-A	brain
24	chr7:61084600-61086000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr7:61084800-61085400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:61084800-61085400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
27	chr7:61084800-61085600	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr7:61084800-61085600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
29	chr7:61084800-61085600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr7:61084800-61085600	ZNF genes & repeats	Psoas Muscle	Psoas
31	chr7:61084800-61085800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
32	chr7:61084800-61085800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
33	chr7:61084800-61085800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:61085000-61085400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:61085000-61085400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:61085000-61085400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:61085000-61085400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
38	chr7:61085000-61085400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:61085000-61085400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr7:61085000-61085400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:61085000-61085400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr7:61085000-61085400	ZNF genes & repeats	Brain Anterior Caudate	brain
43	chr7:61085000-61085400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:61085000-61085400	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr7:61085000-61085400	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr7:61085000-61085400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr7:61085000-61085400	ZNF genes & repeats	Left Ventricle	heart
48	chr7:61085000-61085400	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
49	chr7:61085000-61085400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
50	chr7:61085000-61085400	ZNF genes & repeats	Small Intestine	intestine

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