Variant report

Variant	esv2498217
Chromosome Location	chr6:37339897-37343468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37341724..37343636-chr6:37392718..37394515,2	K562	blood:
2	chr6:37337589..37340258-chr6:37350872..37353770,2	MCF-7	breast:
3	chr6:37321016..37322876-chr6:37340772..37342424,2	MCF-7	breast:
4	chr6:37323470..37325432-chr6:37341488..37344203,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112130	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540644453	chr6:37339927-37339928	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534110040	chr6:37340078-37340079	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554470790	chr6:37340080-37340081	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559542614	chr6:37340111-37340112	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541858005	chr6:37340160-37340161	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555357356	chr6:37340210-37340211	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575311297	chr6:37340292-37340293	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9470562	chr6:37340321-37340322	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375263285	chr6:37340405-37340406	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564007546	chr6:37340467-37340468	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112916976	chr6:37340468-37340469	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533178349	chr6:37340473-37340474	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540022942	chr6:37340474-37340475	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151284669	chr6:37340483-37340484	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559381013	chr6:37340496-37340497	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185840303	chr6:37340535-37340536	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139567844	chr6:37340562-37340563	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374683043	chr6:37340571-37340572	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189913384	chr6:37340572-37340573	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551488096	chr6:37340574-37340575	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573001047	chr6:37340599-37340600	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573361835	chr6:37340613-37340614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9470563	chr6:37340614-37340615	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146750950	chr6:37340617-37340618	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375634558	chr6:37340637-37340638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554033856	chr6:37340667-37340668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369769307	chr6:37340699-37340700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9470564	chr6:37340700-37340701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536995370	chr6:37340718-37340719	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556889702	chr6:37340734-37340735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73425609	chr6:37340772-37340773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs195374	chr6:37340801-37340802	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557854036	chr6:37340809-37340810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577628377	chr6:37340865-37340866	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540430026	chr6:37340902-37340903	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181681072	chr6:37340961-37340962	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544291467	chr6:37341006-37341007	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34925515	chr6:37341025-37341026	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10641884	chr6:37341026-37341027	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184049886	chr6:37341094-37341095	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562421247	chr6:37341118-37341119	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531619087	chr6:37341136-37341137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551453638	chr6:37341217-37341218	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9470565	chr6:37341234-37341235	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs527740076	chr6:37341274-37341275	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7752199	chr6:37341292-37341293	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567806347	chr6:37341308-37341309	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188737422	chr6:37341320-37341321	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556922292	chr6:37341327-37341328	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570334165	chr6:37341328-37341329	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37323000-37351400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:37323400-37349800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:37323400-37356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:37324000-37366800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:37328000-37360800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:37328000-37361800	Strong transcription	Dnd41	blood
7	chr6:37328600-37361200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr6:37334000-37340400	Strong transcription	Hela-S3	cervix
9	chr6:37334400-37340000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr6:37334400-37363200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:37334600-37340000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:37334600-37340000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:37334600-37352600	Strong transcription	Primary T cells from cord blood	blood
14	chr6:37334600-37352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:37334600-37353000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:37334800-37340800	Strong transcription	Primary B cells from cord blood	blood
17	chr6:37335000-37341600	Strong transcription	Fetal Stomach	stomach
18	chr6:37335400-37352400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:37335600-37340200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:37335600-37340200	Strong transcription	Fetal Intestine Large	intestine
21	chr6:37335600-37340600	Strong transcription	Adipose Nuclei	Adipose
22	chr6:37335600-37343800	Strong transcription	Fetal Thymus	thymus
23	chr6:37335600-37345000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr6:37335600-37351600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:37335800-37340400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:37335800-37340800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:37335800-37347400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:37335800-37348200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:37336000-37351600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr6:37336200-37340400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:37337000-37340200	Strong transcription	K562	blood
32	chr6:37337000-37348800	Weak transcription	NHDF-Ad	bronchial
33	chr6:37337200-37340200	Strong transcription	Liver	Liver
34	chr6:37337200-37353000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:37337400-37340200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr6:37337400-37340200	Strong transcription	GM12878-XiMat	blood
37	chr6:37337400-37340600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:37337400-37357000	Weak transcription	Stomach Mucosa	stomach
39	chr6:37337400-37362600	Weak transcription	Psoas Muscle	Psoas
40	chr6:37337600-37340400	Strong transcription	Primary hematopoietic stem cells	blood
41	chr6:37337600-37341000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:37337600-37342200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:37337600-37352000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:37337600-37354000	Weak transcription	Right Ventricle	heart
45	chr6:37337600-37361000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr6:37337600-37363200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:37337600-37363200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:37337800-37340000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:37337800-37340600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:37337800-37341600	Weak transcription	Fetal Lung	lung

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