Variant report

Variant	esv3496311
Chromosome Location	chr7:62025175-62400790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41398894..41400557-chr7:62191292..62192792,2	K562	blood:
2	chr7:62284727..62285228-chr9:30620902..30621883,2	MCF-7	breast:
3	chr17:41380367..41382313-chr7:62191292..62192792,2	MCF-7	breast:
4	chr17:41399589..41402142-chr7:62189772..62191292,2	K562	blood:
5	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
6	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
7	chr7:62093615..62095373-chr7:62122563..62125212,2	K562	blood:
8	chr1:121484723..121485367-chr7:62026258..62026778,2	MCF-7	breast:
9	chr17:41380312..41382165-chr7:62191292..62192792,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions

Extended variants
information (count: 22662 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:22662 , 50 per page) page: 1 2 3 4 5 6 7 ... 454

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574711769	chr7:62025181-62025182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2382597	chr7:62025185-62025186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368189966	chr7:62025192-62025193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561850654	chr7:62025217-62025218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529057674	chr7:62025222-62025223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113129120	chr7:62025225-62025226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111891355	chr7:62025237-62025238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199681341	chr7:62025246-62025247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371716697	chr7:62025254-62025255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111615002	chr7:62025260-62025261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112893590	chr7:62025270-62025271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557241297	chr7:62025288-62025289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200609517	chr7:62025304-62025305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201611350	chr7:62025315-62025316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537546903	chr7:62025327-62025328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200117901	chr7:62025330-62025331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148488797	chr7:62025331-62025332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200786529	chr7:62025333-62025334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141151928	chr7:62025334-62025335	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143762024	chr7:62025337-62025338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141402011	chr7:62025340-62025341	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533050093	chr7:62025344-62025345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144279356	chr7:62025351-62025352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201973406	chr7:62025362-62025363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551546934	chr7:62025370-62025371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199881870	chr7:62025377-62025378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569584648	chr7:62025390-62025391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530430703	chr7:62025395-62025396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201032251	chr7:62025408-62025409	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550413003	chr7:62025414-62025415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201597181	chr7:62025426-62025427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199760718	chr7:62025433-62025434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568678793	chr7:62025434-62025435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535782705	chr7:62025435-62025436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200043387	chr7:62025444-62025445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200869224	chr7:62025447-62025448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553939364	chr7:62025449-62025450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565983352	chr7:62025466-62025467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200395718	chr7:62025473-62025474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539501605	chr7:62025474-62025475	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112416802	chr7:62025484-62025485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201169533	chr7:62025486-62025487	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140578798	chr7:62025495-62025496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557980253	chr7:62025514-62025515	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576353125	chr7:62025521-62025522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543474756	chr7:62025525-62025526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376262077	chr7:62025530-62025531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200326384	chr7:62025544-62025545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555759440	chr7:62025555-62025556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145122968	chr7:62025564-62025565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Bipolar disorder	19214233	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Schizophrenia	23813976	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62014400-62029800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:62014600-62025200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr7:62014600-62027600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:62014800-62026800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr7:62014800-62026800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr7:62022000-62025800	Weak transcription	K562	blood
7	chr7:62022000-62032000	Weak transcription	NH-A	brain
8	chr7:62026600-62026800	ZNF genes & repeats	HUVEC	blood vessel
9	chr7:62031200-62047200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr7:62031400-62032000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:62031600-62032200	ZNF genes & repeats	HUVEC	blood vessel
12	chr7:62031600-62032400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:62031600-62047000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:62031800-62032200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr7:62031800-62032400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr7:62031800-62032600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr7:62031800-62032600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr7:62032000-62032200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
19	chr7:62032000-62032200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:62032000-62032200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
21	chr7:62032000-62032200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:62032000-62032200	ZNF genes & repeats	NH-A	brain
23	chr7:62034600-62036800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr7:62036400-62047800	ZNF genes & repeats	Liver	Liver
25	chr7:62038000-62041600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr7:62040000-62040200	Bivalent Enhancer	HSMM	muscle
27	chr7:62040000-62040200	ZNF genes & repeats	HSMMtube	muscle
28	chr7:62040000-62040200	ZNF genes & repeats	HUVEC	blood vessel
29	chr7:62040000-62040200	Active TSS	K562	blood
30	chr7:62040000-62040200	ZNF genes & repeats	NH-A	brain
31	chr7:62040000-62040200	Enhancers	NHLF	lung
32	chr7:62040000-62040200	Enhancers	Osteobl	bone
33	chr7:62040000-62040400	Active TSS	Aorta	Aorta
34	chr7:62040000-62040400	ZNF genes & repeats	HMEC	breast
35	chr7:62040000-62043000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
36	chr7:62045800-62047800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr7:62046000-62047000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr7:62048200-62049200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:62049400-62050200	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr7:62049400-62053200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr7:62055600-62057600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:62056200-62057000	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr7:62061200-62062400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr7:62061600-62062800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:62069000-62073600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr7:62069600-62076000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr7:62069600-62076400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:62071600-62074400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr7:62075000-62075200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:62075000-62075400	ZNF genes & repeats	NH-A	brain

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