Variant report

Variant	esv1811838
Chromosome Location	chr6:167832036-167837342
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	chr6:167818746..167821496-chr6:167831177..167833070,2	K562	blood:
2	chr20:57615578..57617834-chr6:167831422..167833295,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101166	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4129277	chr6:167832036-167832037	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569419601	chr6:167832052-167832053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531534618	chr6:167832054-167832055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191038241	chr6:167832079-167832080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10806694	chr6:167832086-167832087	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551311916	chr6:167832106-167832107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543550634	chr6:167832121-167832122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528332778	chr6:167832127-167832128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116660151	chr6:167832140-167832141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549024142	chr6:167832174-167832175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568002521	chr6:167832196-167832197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12528541	chr6:167832219-167832220	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553905498	chr6:167832272-167832273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183214855	chr6:167832280-167832281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556773835	chr6:167832326-167832327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79192786	chr6:167832412-167832413	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534024977	chr6:167832415-167832416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555382721	chr6:167832423-167832424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539544211	chr6:167832530-167832531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566246330	chr6:167832538-167832539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557746748	chr6:167832544-167832545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572897333	chr6:167832545-167832546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540547525	chr6:167832561-167832562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76489201	chr6:167832580-167832581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540026127	chr6:167832603-167832604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574142609	chr6:167832637-167832638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544833999	chr6:167832658-167832659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562940213	chr6:167832664-167832665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565022187	chr6:167832681-167832682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377051282	chr6:167832723-167832724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560088701	chr6:167832727-167832728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369470064	chr6:167832748-167832749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199608622	chr6:167832761-167832762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74967622	chr6:167832765-167832766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9457335	chr6:167832771-167832772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs567326723	chr6:167832778-167832779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529075529	chr6:167832779-167832780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76880767	chr6:167832815-167832816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376575622	chr6:167832835-167832836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569084233	chr6:167832912-167832913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147279798	chr6:167832938-167832939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557914340	chr6:167832945-167832946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576672724	chr6:167832954-167832955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145902638	chr6:167833052-167833053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566458797	chr6:167833053-167833054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58433276	chr6:167833135-167833136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185962821	chr6:167833140-167833141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371128177	chr6:167833145-167833146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574225141	chr6:167833163-167833164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538163120	chr6:167833175-167833176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167829600-167833800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:167829600-167834800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:167829600-167841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:167829800-167842200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:167830400-167832400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:167830400-167840200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:167830600-167832800	Weak transcription	HepG2	liver
8	chr6:167830600-167836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:167831000-167833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:167832400-167834200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:167832800-167833000	Enhancers	HepG2	liver
12	chr6:167833000-167833400	Weak transcription	HepG2	liver
13	chr6:167833200-167834200	Enhancers	Fetal Intestine Small	intestine
14	chr6:167833400-167834400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:167833400-167834400	Enhancers	HepG2	liver
16	chr6:167833600-167833800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:167833600-167834000	Enhancers	Gastric	stomach
18	chr6:167833600-167834200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:167833600-167834200	Enhancers	Fetal Intestine Large	intestine
20	chr6:167833600-167834200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr6:167833800-167834000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr6:167833800-167834000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:167833800-167834200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:167833800-167834800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:167833800-167835000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:167833800-167835200	Enhancers	Stomach Mucosa	stomach
27	chr6:167833800-167835400	Active TSS	Duodenum Mucosa	Duodenum
28	chr6:167834000-167839400	Weak transcription	Gastric	stomach
29	chr6:167834000-167846400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:167834200-167834400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:167834200-167834600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:167834200-167834600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:167834200-167834600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:167834200-167834800	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr6:167834200-167835000	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr6:167834400-167834600	Enhancers	Colonic Mucosa	Colon
37	chr6:167834400-167834600	Genic enhancers	HepG2	liver
38	chr6:167834400-167834800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr6:167834400-167835200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr6:167834600-167834800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr6:167834600-167834800	Flanking Active TSS	Colonic Mucosa	Colon
42	chr6:167834600-167834800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:167834600-167835000	Transcr. at gene 5' and 3'	HepG2	liver
44	chr6:167834600-167835200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:167834600-167835200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:167834600-167835200	Bivalent Enhancer	Placenta	Placenta
47	chr6:167834800-167835000	Enhancers	Lung	lung
48	chr6:167834800-167835200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:167834800-167835400	Active TSS	Colonic Mucosa	Colon
50	chr6:167834800-167835400	ZNF genes & repeats	Fetal Intestine Large	intestine

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