Variant report

Variant	nsv981301
Chromosome Location	chr6:38119797-38124102
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	chr6:37786224..37788976-chr6:38123206..38127132,3	MCF-7	breast:
2	chr6:38119695..38122096-chr6:38125014..38126527,2	K562	blood:

Variant related genes	Relation type
ENSG00000156639	chromatin interactions
ENSG00000225945	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13437101	chr6:38119820-38119821	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146313169	chr6:38119850-38119851	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542102519	chr6:38119858-38119859	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548773652	chr6:38119865-38119866	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562084278	chr6:38119866-38119867	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575794307	chr6:38119879-38119880	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs881681	chr6:38119895-38119896	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564714623	chr6:38119918-38119919	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16890395	chr6:38119942-38119943	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs377087135	chr6:38119981-38119982	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552327600	chr6:38119982-38119983	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200631614	chr6:38119983-38119984	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372196620	chr6:38119988-38119989	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140495556	chr6:38120016-38120017	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112599440	chr6:38120035-38120036	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142374943	chr6:38120042-38120043	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75226624	chr6:38120060-38120061	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140454525	chr6:38120094-38120095	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139051222	chr6:38120180-38120181	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369864859	chr6:38120190-38120191	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568218026	chr6:38120276-38120277	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537361233	chr6:38120339-38120340	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550467518	chr6:38120376-38120377	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570646833	chr6:38120395-38120396	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533874413	chr6:38120403-38120404	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139133392	chr6:38120404-38120405	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367737222	chr6:38120490-38120491	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115503575	chr6:38120553-38120554	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567321353	chr6:38120558-38120559	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553086392	chr6:38120612-38120613	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141602812	chr6:38120632-38120633	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535504349	chr6:38120642-38120643	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555738926	chr6:38120652-38120653	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs876818	chr6:38120660-38120661	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78873482	chr6:38120675-38120676	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544907802	chr6:38120684-38120685	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564496470	chr6:38120753-38120754	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190877705	chr6:38120758-38120759	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545903309	chr6:38120808-38120809	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183244060	chr6:38120815-38120816	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186794941	chr6:38120849-38120850	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576615783	chr6:38120864-38120865	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548167269	chr6:38120891-38120892	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561738652	chr6:38120906-38120907	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191633375	chr6:38120922-38120923	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374535001	chr6:38120924-38120925	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13552	chr6:38120960-38120961	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559036361	chr6:38120964-38120965	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371881366	chr6:38120992-38120993	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539288996	chr6:38121014-38121015	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38081800-38121800	Weak transcription	Psoas Muscle	Psoas
2	chr6:38084000-38122200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr6:38084600-38124200	Weak transcription	Hela-S3	cervix
4	chr6:38091200-38119800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:38091400-38141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:38095200-38122600	Weak transcription	A549	lung
7	chr6:38103000-38127200	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:38109200-38123000	Weak transcription	Ovary	ovary
9	chr6:38109200-38129000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:38110200-38122200	Weak transcription	HUVEC	blood vessel
11	chr6:38111200-38119800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:38111200-38122400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:38111800-38119800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:38111800-38120000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:38111800-38138200	Weak transcription	Fetal Brain Female	brain
16	chr6:38112400-38128400	Weak transcription	Brain Germinal Matrix	brain
17	chr6:38112400-38138200	Weak transcription	Fetal Brain Male	brain
18	chr6:38112800-38121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:38113000-38121000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:38113000-38127800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:38113200-38134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:38113200-38138000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:38113400-38119800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:38113800-38120600	Weak transcription	Primary B cells from cord blood	blood
25	chr6:38114400-38138200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:38114600-38119800	Weak transcription	Osteobl	bone
27	chr6:38114600-38121400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:38114600-38122600	Weak transcription	HMEC	breast
29	chr6:38114600-38123000	Weak transcription	Brain Substantia Nigra	brain
30	chr6:38114600-38123000	Weak transcription	NH-A	brain
31	chr6:38114600-38127200	Weak transcription	HSMM	muscle
32	chr6:38115200-38123200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:38115200-38123200	Weak transcription	Brain Angular Gyrus	brain
34	chr6:38115200-38123200	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:38115400-38119800	Weak transcription	Brain Anterior Caudate	brain
36	chr6:38115800-38121800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr6:38115800-38122800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:38116000-38121000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr6:38116000-38123400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:38116200-38120200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:38116200-38120800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr6:38116400-38121200	Strong transcription	Fetal Intestine Small	intestine
43	chr6:38116400-38121400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr6:38116400-38122400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:38116800-38119800	Weak transcription	Dnd41	blood
46	chr6:38116800-38120000	Weak transcription	GM12878-XiMat	blood
47	chr6:38117200-38120600	Strong transcription	Primary T cells from cord blood	blood
48	chr6:38117200-38122000	Strong transcription	Liver	Liver
49	chr6:38117200-38131800	Weak transcription	Stomach Mucosa	stomach
50	chr6:38117400-38119800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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