Variant report

Variant	nsv603315
Chromosome Location	chr6:62454353-62651063
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:62520772..62522597-chr6:62523953..62526303,2	K562	blood:
2	chr6:62545749..62547961-chr6:62548535..62550868,2	MCF-7	breast:
3	chr6:62621722..62623294-chr6:62626600..62628744,2	MCF-7	breast:
4	chr6:62519001..62519629-chr6:62859955..62860555,3	MCF-7	breast:
5	chr20:45985491..45988318-chr6:62588370..62590548,2	MCF-7	breast:
6	chr6:62545749..62547961-chr6:62548535..62550868,2	MCF-7	breast:
7	chr6:62518549..62519303-chr6:63600674..63601315,2	MCF-7	breast:
8	chr6:62621722..62623294-chr6:62626600..62628744,2	MCF-7	breast:
9	chr6:62520772..62522597-chr6:62523953..62526303,2	K562	blood:
10	chr6:62518763..62519292-chr6:62993656..62994388,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101040	chromatin interactions

Extended variants
information (count: 5172 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:5172 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189770401	chr6:62460404-62460405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533902206	chr6:62460424-62460425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181000668	chr6:62460438-62460439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567353683	chr6:62460469-62460470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185381989	chr6:62460527-62460528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556287549	chr6:62460530-62460531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554370600	chr6:62460564-62460565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190913887	chr6:62460597-62460598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78747342	chr6:62460606-62460607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554400995	chr6:62460628-62460629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375513388	chr6:62460664-62460665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564819586	chr6:62460666-62460667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565292405	chr6:62460668-62460669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201447822	chr6:62460679-62460680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61576563	chr6:62460682-62460683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575143164	chr6:62460707-62460708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6933788	chr6:62460794-62460795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554589756	chr6:62460798-62460799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558123911	chr6:62460808-62460809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576152689	chr6:62460848-62460849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369706447	chr6:62460854-62460855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115822888	chr6:62460870-62460871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188202727	chr6:62460927-62460928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532285382	chr6:62460929-62460930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144647524	chr6:62460935-62460936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564041460	chr6:62460965-62460966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532151451	chr6:62460986-62460987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559562770	chr6:62460989-62460990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529919838	chr6:62461004-62461005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548103356	chr6:62461013-62461014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148214479	chr6:62461053-62461054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192036309	chr6:62461074-62461075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550209693	chr6:62461112-62461113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571654310	chr6:62461117-62461118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533226798	chr6:62461183-62461184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539196328	chr6:62461215-62461216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554087684	chr6:62461222-62461223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141965224	chr6:62461238-62461239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182985645	chr6:62461254-62461255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555341192	chr6:62461394-62461395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373332067	chr6:62461439-62461440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576066400	chr6:62461451-62461452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543444638	chr6:62461472-62461473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9444708	chr6:62461493-62461494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188373788	chr6:62461498-62461499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191216684	chr6:62461512-62461513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541638921	chr6:62461553-62461554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115518549	chr6:62461587-62461588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568961293	chr6:62461613-62461614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529888887	chr6:62461616-62461617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62460400-62462200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:62461200-62461600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:62461600-62462800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:62463000-62463200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:62468800-62470200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:62469600-62470000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:62469600-62470000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:62469600-62471200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:62469800-62470600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:62478600-62479400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr6:62510600-62511000	Enhancers	Fetal Heart	heart
12	chr6:62520000-62520200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:62521800-62574000	Weak transcription	Primary B cells from cord blood	blood
14	chr6:62524200-62524800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:62524400-62525000	Enhancers	Primary hematopoietic stem cells	blood
16	chr6:62524600-62525600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:62524600-62526200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:62524800-62525800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:62525000-62525400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr6:62525400-62525800	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:62525800-62526400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:62526400-62531200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:62529600-62530000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:62530000-62534200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:62531200-62531400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:62534200-62534400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:62534400-62536200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:62536200-62536600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:62543200-62545400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:62543800-62545200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:62543800-62545400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:62545400-62545800	Enhancers	Fetal Brain Male	brain
33	chr6:62550400-62550600	Enhancers	Fetal Kidney	kidney
34	chr6:62550600-62551600	Weak transcription	Fetal Kidney	kidney
35	chr6:62551600-62552000	Enhancers	Fetal Kidney	kidney
36	chr6:62562800-62564000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:62564000-62564200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr6:62564000-62564200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:62564200-62564400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:62564400-62585000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:62564600-62565200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:62566400-62566800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:62566400-62567000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr6:62566600-62567000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:62574000-62575400	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr6:62574400-62576200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:62574800-62575200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:62575000-62577800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:62575400-62667600	Weak transcription	Primary B cells from cord blood	blood
50	chr6:62575800-62576400	ZNF genes & repeats	Fetal Intestine Small	intestine

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