Variant report

Variant	esv3474317
Chromosome Location	chr6:150080191-150081006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150071337..150080563-chr6:150080588..150087592,16	K562	blood:
2	chr6:150071337..150080563-chr6:150080588..150087592,16	K562	blood:
3	chr6:150080552..150082933-chr6:150085162..150087881,2	K562	blood:
4	chr6:150067420..150070496-chr6:150080742..150084975,5	MCF-7	breast:
5	chr6:150080535..150082998-chr6:150090034..150092678,2	MCF-7	breast:
6	chr6:150067902..150070845-chr6:150079961..150081547,2	K562	blood:

Variant related genes	Relation type
ENSG00000120253	chromatin interactions
ENSG00000120265	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12201047	chr6:150080236-150080237	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs199991697	chr6:150080241-150080242	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576505530	chr6:150080247-150080248	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558058972	chr6:150080262-150080263	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs578221425	chr6:150080264-150080265	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150094633	chr6:150080277-150080278	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182199861	chr6:150080286-150080287	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573319226	chr6:150080290-150080291	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138378132	chr6:150080306-150080307	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562247070	chr6:150080307-150080308	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547569665	chr6:150080311-150080312	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575732835	chr6:150080395-150080396	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545063175	chr6:150080431-150080432	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564918560	chr6:150080460-150080461	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs186801908	chr6:150080467-150080468	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs540981020	chr6:150080468-150080469	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561123972	chr6:150080536-150080537	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189760310	chr6:150080539-150080540	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs10872649	chr6:150080590-150080591	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs368076691	chr6:150080619-150080620	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376228439	chr6:150080627-150080628	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549392020	chr6:150080639-150080640	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149235111	chr6:150080686-150080687	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs560385551	chr6:150080704-150080705	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529134904	chr6:150080786-150080787	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374089838	chr6:150080819-150080820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11155680	chr6:150080882-150080883	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs182793491	chr6:150080910-150080911	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571768891	chr6:150080922-150080923	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534369987	chr6:150080927-150080928	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554053474	chr6:150080973-150080974	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150071800-150081200	Weak transcription	Spleen	Spleen
2	chr6:150071800-150092600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:150071800-150092800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:150071800-150100200	Weak transcription	Gastric	stomach
5	chr6:150072000-150081000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:150072000-150081200	Weak transcription	Placenta	Placenta
7	chr6:150072000-150081600	Weak transcription	Fetal Stomach	stomach
8	chr6:150072000-150086800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:150072000-150087000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:150072000-150087200	Weak transcription	Stomach Mucosa	stomach
11	chr6:150072000-150094200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:150072000-150111000	Weak transcription	Fetal Kidney	kidney
13	chr6:150072000-150152000	Weak transcription	Aorta	Aorta
14	chr6:150072200-150080800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:150072200-150081000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:150072200-150081000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:150072200-150081200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:150072200-150087000	Weak transcription	Fetal Lung	lung
19	chr6:150072200-150087200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:150072200-150087200	Weak transcription	Primary T cells from cord blood	blood
21	chr6:150072200-150087200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:150072200-150087200	Weak transcription	NH-A	brain
23	chr6:150072400-150080600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:150072400-150081000	Weak transcription	HSMM	muscle
25	chr6:150072400-150081000	Weak transcription	HSMMtube	muscle
26	chr6:150072400-150081000	Weak transcription	Osteobl	bone
27	chr6:150072400-150081400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:150072400-150086800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:150072400-150087200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:150072400-150104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:150072400-150111400	Weak transcription	Colonic Mucosa	Colon
32	chr6:150072600-150080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:150072600-150081000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:150072600-150087000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:150072600-150087200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:150072600-150087200	Weak transcription	NHEK	skin
37	chr6:150072800-150081000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:150072800-150081000	Weak transcription	Brain Germinal Matrix	brain
39	chr6:150072800-150081200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:150072800-150081200	Weak transcription	HMEC	breast
41	chr6:150072800-150087200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr6:150073000-150086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:150073000-150086800	Weak transcription	Fetal Brain Female	brain
44	chr6:150073000-150087200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:150073000-150094400	Weak transcription	Lung	lung
46	chr6:150073200-150080400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:150073200-150081000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:150073200-150081000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:150073200-150087200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:150073200-150087200	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links