Variant report

Variant	esv2762587
Chromosome Location	chr6:37535730-37545923
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37533306..37535085-chr6:37536114..37538057,2	K562	blood:
2	chr6:37536709..37539290-chr6:37640782..37642683,2	MCF-7	breast:
3	chr6:37538192..37539787-chr6:37543021..37546042,3	MCF-7	breast:
4	chr6:37534690..37536873-chr6:37542590..37544739,2	MCF-7	breast:
5	chr6:37538192..37539787-chr6:37543021..37546042,3	MCF-7	breast:
6	chr6:37544738..37547399-chr6:37555553..37558096,2	MCF-7	breast:
7	chr6:37451478..37453334-chr6:37536422..37539056,2	MCF-7	breast:
8	chr6:37536721..37538637-chr6:37643593..37645341,2	K562	blood:
9	chr6:37534160..37535915-chr6:37545262..37547112,2	K562	blood:
10	chr6:37536776..37539580-chr6:37592890..37596522,3	MCF-7	breast:
11	chr6:37391304..37393328-chr6:37535749..37538149,2	MCF-7	breast:
12	chr6:37391727..37394301-chr6:37541639..37543938,2	K562	blood:
13	chr6:37527326..37529489-chr6:37534406..37536538,2	K562	blood:
14	chr6:37534160..37535915-chr6:37545262..37547112,2	K562	blood:
15	chr6:37534690..37536873-chr6:37542590..37544739,2	MCF-7	breast:
16	chr6:37526579..37529682-chr6:37532707..37536538,3	K562	blood:
17	chr6:37539685..37542542-chr6:37546047..37547576,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL353597.1-5	chr6:37535492-37539236	NONHSAT112275

No data

Extended variants
information (count: 424 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1776450	chr6:37535730-37535731	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540342259	chr6:37535758-37535759	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs533271801	chr6:37535788-37535789	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs181581169	chr6:37535823-37535824	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs186032086	chr6:37535846-37535847	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs529429140	chr6:37535863-37535864	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
7	rs190101033	chr6:37535870-37535871	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
8	rs140873555	chr6:37535934-37535935	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
9	rs553952563	chr6:37535939-37535940	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
10	rs539785355	chr6:37535956-37535957	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
11	rs538113845	chr6:37535997-37535998	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
12	rs550314290	chr6:37536037-37536038	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs181278350	chr6:37536067-37536068	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs376555920	chr6:37536094-37536095	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs539201329	chr6:37536113-37536114	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs7741573	chr6:37536121-37536122	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs572981931	chr6:37536129-37536130	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs368595353	chr6:37536145-37536146	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs555569339	chr6:37536180-37536181	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs185012393	chr6:37536181-37536182	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs113213613	chr6:37536195-37536196	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs564368953	chr6:37536201-37536202	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs542669754	chr6:37536246-37536247	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs577958838	chr6:37536262-37536263	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs540404265	chr6:37536292-37536293	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs183719963	chr6:37536296-37536297	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs373802376	chr6:37536309-37536310	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs562754461	chr6:37536328-37536329	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs189066154	chr6:37536400-37536401	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs542827622	chr6:37536526-37536527	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs562701437	chr6:37536531-37536532	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs371892144	chr6:37536546-37536547	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs559241308	chr6:37536555-37536556	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs531521990	chr6:37536556-37536557	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs191418270	chr6:37536564-37536565	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs570388824	chr6:37536588-37536589	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs532919892	chr6:37536589-37536590	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs77651475	chr6:37536661-37536662	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs552586131	chr6:37536702-37536703	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs183002480	chr6:37536735-37536736	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs545158508	chr6:37536755-37536756	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs73730792	chr6:37536837-37536838	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555606063	chr6:37536856-37536857	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs144846315	chr6:37536901-37536902	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs187671281	chr6:37536908-37536909	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs35854858	chr6:37536925-37536926	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577979200	chr6:37536945-37536946	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs9380682	chr6:37536946-37536947	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553846569	chr6:37537034-37537035	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
50	rs573805820	chr6:37537066-37537067	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37534200-37535800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:37534200-37537200	Weak transcription	Ovary	ovary
3	chr6:37534200-37537600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:37534200-37556600	Weak transcription	Right Atrium	heart
5	chr6:37534400-37536000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:37534400-37537400	Weak transcription	Primary B cells from cord blood	blood
7	chr6:37534600-37535800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:37534600-37537600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:37534800-37536800	Weak transcription	Fetal Brain Female	brain
10	chr6:37535200-37537600	Weak transcription	Brain Germinal Matrix	brain
11	chr6:37535400-37536000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:37535600-37535800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr6:37535600-37537400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:37535600-37537400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:37535800-37536000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr6:37535800-37537400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:37536000-37537800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:37536000-37538000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:37537000-37537600	Bivalent Enhancer	Fetal Brain Male	brain
20	chr6:37537200-37537400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:37537200-37538800	Enhancers	Ovary	ovary
22	chr6:37537400-37537600	Enhancers	Fetal Brain Female	brain
23	chr6:37537400-37538800	Enhancers	Primary B cells from cord blood	blood
24	chr6:37537400-37538800	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:37537400-37539400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:37537400-37540000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:37537600-37537800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:37537600-37537800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr6:37537600-37537800	Enhancers	Fetal Brain Male	brain
30	chr6:37537600-37538200	Enhancers	Brain Germinal Matrix	brain
31	chr6:37537600-37538600	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:37537600-37539000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr6:37537800-37538000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:37537800-37538400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:37537800-37538400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:37537800-37538800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:37537800-37538800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr6:37537800-37539000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:37538000-37538200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:37538000-37538200	Bivalent Enhancer	Fetal Thymus	thymus
41	chr6:37538000-37538600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:37538000-37538600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:37538200-37538800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:37538200-37539000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr6:37538400-37538600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr6:37538400-37538600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:37538400-37538600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:37538400-37538600	Bivalent Enhancer	Placenta	Placenta
49	chr6:37538400-37538600	Bivalent Enhancer	Fetal Stomach	stomach
50	chr6:37538400-37538800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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