Variant report

Variant	nsv969296
Chromosome Location	chr6:38210477-38213915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38206376..38209309-chr6:38213456..38216223,2	MCF-7	breast:
2	chr6:38210257..38213113-chr6:38213804..38216436,2	K562	blood:
3	chr6:38163651..38165832-chr6:38213347..38216236,2	K562	blood:
4	chr6:38210095..38212639-chr6:38215015..38217311,2	K562	blood:
5	chr6:38210257..38213113-chr6:38213804..38216436,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10484932	chr6:38210495-38210496	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9296240	chr6:38210519-38210520	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191705853	chr6:38210526-38210527	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183494336	chr6:38210530-38210531	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550788480	chr6:38210555-38210556	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9296241	chr6:38210575-38210576	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533490683	chr6:38210624-38210625	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546733246	chr6:38210645-38210646	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566537164	chr6:38210704-38210705	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9296242	chr6:38210712-38210713	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9394481	chr6:38210767-38210768	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12194178	chr6:38210797-38210798	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs565247243	chr6:38210807-38210808	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541527692	chr6:38210928-38210929	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9357267	chr6:38211006-38211007	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9394482	chr6:38211075-38211076	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545891976	chr6:38211178-38211179	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553142589	chr6:38211180-38211181	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572970386	chr6:38211209-38211210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541872463	chr6:38211222-38211223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563678715	chr6:38211259-38211260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532052232	chr6:38211314-38211315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530851910	chr6:38211352-38211353	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544153259	chr6:38211384-38211385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564310209	chr6:38211386-38211387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140739146	chr6:38211421-38211422	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546381906	chr6:38211442-38211443	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566672773	chr6:38211476-38211477	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529326052	chr6:38211493-38211494	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549001393	chr6:38211511-38211512	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150092902	chr6:38211526-38211527	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138423303	chr6:38211590-38211591	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531101408	chr6:38211685-38211686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377076581	chr6:38211697-38211698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558126354	chr6:38211698-38211699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114680064	chr6:38211701-38211702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534171984	chr6:38211724-38211725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554383410	chr6:38211838-38211839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573006641	chr6:38211904-38211905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144760006	chr6:38211919-38211920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550918115	chr6:38211922-38211923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138508236	chr6:38211974-38211975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575086175	chr6:38211999-38212000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544507231	chr6:38212013-38212014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377325269	chr6:38212074-38212075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564265463	chr6:38212230-38212231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533253797	chr6:38212295-38212296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377065884	chr6:38212317-38212318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113009632	chr6:38212326-38212327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189509369	chr6:38212418-38212419	Weak transcription Strong transcription	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
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
Breast cancer	17603634	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38178000-38221600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38178000-38221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr6:38181400-38229400	Weak transcription	Fetal Intestine Small	intestine
4	chr6:38186600-38215200	Weak transcription	Aorta	Aorta
5	chr6:38194400-38230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:38203400-38212800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:38204200-38215200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:38204800-38229400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:38205200-38211000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:38205200-38216200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:38205200-38228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:38207800-38229400	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:38208000-38212600	Weak transcription	Right Ventricle	heart
14	chr6:38208000-38213000	Weak transcription	Left Ventricle	heart
15	chr6:38208000-38221600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:38208000-38222400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:38208000-38226400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:38208200-38211000	Weak transcription	Stomach Mucosa	stomach
19	chr6:38208200-38212800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:38208200-38213000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:38208200-38213000	Weak transcription	Lung	lung
22	chr6:38208200-38213000	Weak transcription	Right Atrium	heart
23	chr6:38208200-38215200	Weak transcription	Pancreas	Pancrea
24	chr6:38208200-38216400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:38208200-38216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:38208200-38216400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:38208200-38222200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:38208200-38226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:38208200-38227600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:38208200-38236600	Weak transcription	Gastric	stomach
31	chr6:38208200-38255000	Weak transcription	Ovary	ovary
32	chr6:38208600-38222400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr6:38209000-38229000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:38209200-38210800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:38209200-38210800	Strong transcription	Primary B cells from cord blood	blood
36	chr6:38209200-38227000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:38209600-38221000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:38209800-38212600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:38210400-38210800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:38210400-38213000	Strong transcription	Primary T cells from cord blood	blood
41	chr6:38210800-38211200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:38210800-38221000	Weak transcription	Primary B cells from cord blood	blood
43	chr6:38210800-38221200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:38211000-38211400	Enhancers	Stomach Mucosa	stomach
45	chr6:38211000-38211600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr6:38211000-38212800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:38211400-38211600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:38211600-38213000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:38211800-38221600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:38212000-38221600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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