Variant report

Variant	esv3528241
Chromosome Location	chr6:37850474-37853622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37835143..37837500-chr6:37850696..37852776,2	MCF-7	breast:
2	chr6:37835497..37837699-chr6:37850167..37852091,2	MCF-7	breast:
3	chr6:37848628..37851263-chr6:37853706..37855828,2	K562	blood:
4	chr6:37850219..37851991-chr6:37857089..37858894,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542589497	chr6:37850570-37850571	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs183026346	chr6:37850641-37850642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531446527	chr6:37850676-37850677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186186238	chr6:37850782-37850783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565046669	chr6:37850819-37850820	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146803607	chr6:37850832-37850833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370813786	chr6:37850844-37850845	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs116076303	chr6:37850853-37850854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530406898	chr6:37850856-37850857	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77197074	chr6:37850857-37850858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140502133	chr6:37850902-37850903	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539280351	chr6:37850935-37850936	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs191429214	chr6:37850944-37850945	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560147117	chr6:37850965-37850966	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571385382	chr6:37851082-37851083	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533518962	chr6:37851172-37851173	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs67817974	chr6:37851181-37851182	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12213835	chr6:37851191-37851192	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs182438374	chr6:37851200-37851201	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573581946	chr6:37851217-37851218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536544742	chr6:37851299-37851300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140944062	chr6:37851323-37851324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556225304	chr6:37851325-37851326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74774580	chr6:37851336-37851337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78214575	chr6:37851337-37851338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35925070	chr6:37851349-37851350	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531570773	chr6:37851353-37851354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187808374	chr6:37851408-37851409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544804885	chr6:37851413-37851414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551894909	chr6:37851457-37851458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572224301	chr6:37851543-37851544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190893316	chr6:37851562-37851563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183359073	chr6:37851564-37851565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571756496	chr6:37851567-37851568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138599374	chr6:37851602-37851603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6914249	chr6:37851607-37851608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532708527	chr6:37851621-37851622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188064869	chr6:37851638-37851639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192002515	chr6:37851653-37851654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533861872	chr6:37851676-37851677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78556012	chr6:37851692-37851693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567243768	chr6:37851693-37851694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184555109	chr6:37851694-37851695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187876644	chr6:37851696-37851697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371968424	chr6:37851743-37851744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575951647	chr6:37851758-37851759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538412786	chr6:37851781-37851782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558315944	chr6:37851841-37851842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74716358	chr6:37851886-37851887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76277811	chr6:37851890-37851891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37836400-37861800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:37837200-37856000	Weak transcription	NHEK	skin
3	chr6:37840200-37855400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:37840400-37860000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:37840600-37861800	Weak transcription	Primary T cells from cord blood	blood
6	chr6:37841200-37852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:37841600-37862400	Weak transcription	Fetal Lung	lung
8	chr6:37845400-37851600	Weak transcription	Fetal Heart	heart
9	chr6:37846000-37857000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:37846000-37865200	Weak transcription	Thymus	Thymus
11	chr6:37846400-37850600	Weak transcription	Ovary	ovary
12	chr6:37846400-37857000	Weak transcription	Right Atrium	heart
13	chr6:37846400-37859600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:37846600-37856800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:37846800-37850800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:37846800-37851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:37846800-37857000	Weak transcription	Right Ventricle	heart
18	chr6:37848200-37852000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:37848200-37854400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:37848400-37854200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:37849000-37850600	Enhancers	Primary B cells from cord blood	blood
22	chr6:37849000-37851000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:37849000-37851000	Enhancers	Liver	Liver
24	chr6:37849000-37851000	Enhancers	Placenta	Placenta
25	chr6:37849000-37851200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:37849200-37850600	Enhancers	HSMMtube	muscle
27	chr6:37849200-37850800	Enhancers	Colon Smooth Muscle	Colon
28	chr6:37849200-37851000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:37849200-37851000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:37849200-37851000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr6:37849200-37851200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:37849200-37851200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:37849200-37851200	Enhancers	NH-A	brain
34	chr6:37849200-37851800	Enhancers	HepG2	liver
35	chr6:37849200-37856600	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:37849200-37857000	Weak transcription	Brain Anterior Caudate	brain
37	chr6:37849400-37850800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:37849400-37851200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:37849400-37851200	Enhancers	Osteobl	bone
40	chr6:37849400-37853000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:37849400-37854000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr6:37849400-37856400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:37849600-37851000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:37849600-37851400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:37849600-37854200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:37849800-37850600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:37849800-37850600	Enhancers	Aorta	Aorta
48	chr6:37849800-37850600	Enhancers	Lung	lung
49	chr6:37849800-37850800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:37849800-37850800	Enhancers	Sigmoid Colon	Sigmoid Colon

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