Variant report

Variant	esv275059
Chromosome Location	chr6:25346985-25351263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:25345654..25347781-chr6:25351220..25353584,2	K562	blood:
2	chr6:25348848..25351253-chr6:25357378..25359021,2	MCF-7	breast:
3	chr6:25345654..25347781-chr6:25351220..25353584,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2690099	chr6:25346985-25346986	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564619613	chr6:25347015-25347016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551070654	chr6:25347031-25347032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371994246	chr6:25347075-25347076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181755258	chr6:25347131-25347132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530934903	chr6:25347155-25347156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563387632	chr6:25347235-25347236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529238173	chr6:25347275-25347276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549271264	chr6:25347327-25347328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566007994	chr6:25347328-25347329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536245937	chr6:25347348-25347349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4712916	chr6:25347380-25347381	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75799516	chr6:25347403-25347404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141714496	chr6:25347404-25347405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147093619	chr6:25347405-25347406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73732949	chr6:25347410-25347411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185970434	chr6:25347417-25347418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368395694	chr6:25347419-25347420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190923717	chr6:25347478-25347479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371873584	chr6:25347500-25347501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555721950	chr6:25347549-25347550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75692755	chr6:25347563-25347564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183079211	chr6:25347568-25347569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564151207	chr6:25347580-25347581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6456670	chr6:25347586-25347587	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569836273	chr6:25347590-25347591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186460186	chr6:25347596-25347597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17678852	chr6:25347613-25347614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs111926501	chr6:25347617-25347618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6456671	chr6:25347646-25347647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548934146	chr6:25347671-25347672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55708418	chr6:25347680-25347681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141913667	chr6:25347694-25347695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552048882	chr6:25347723-25347724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545131497	chr6:25347725-25347726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74412351	chr6:25347728-25347729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6456672	chr6:25347733-25347734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544813787	chr6:25347760-25347761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549904488	chr6:25347817-25347818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569737542	chr6:25347869-25347870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542669481	chr6:25347904-25347905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6456673	chr6:25347923-25347924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555436828	chr6:25347930-25347931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386698174	chr6:25347940-25347941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534654372	chr6:25347942-25347943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558022466	chr6:25347972-25347973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577768868	chr6:25347973-25347974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6456675	chr6:25347977-25347978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs74898478	chr6:25347982-25347983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377759794	chr6:25347983-25347984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25335200-25359800	Weak transcription	Thymus	Thymus
2	chr6:25336800-25350200	Weak transcription	Lung	lung
3	chr6:25336800-25354600	Weak transcription	Right Atrium	heart
4	chr6:25337400-25357800	Weak transcription	NHEK	skin
5	chr6:25340000-25349400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:25341000-25352800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:25341000-25359400	Weak transcription	Pancreas	Pancrea
8	chr6:25342400-25350600	Weak transcription	HSMMtube	muscle
9	chr6:25342800-25351800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:25342800-25354400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:25343000-25352600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:25343600-25348200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:25343800-25350600	Weak transcription	Fetal Intestine Large	intestine
14	chr6:25343800-25354000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:25344000-25350600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:25344200-25349400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:25345400-25349200	Weak transcription	Aorta	Aorta
18	chr6:25346000-25347000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:25346000-25347200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:25346200-25347000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:25346200-25347000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:25346200-25347000	Enhancers	Fetal Lung	lung
23	chr6:25346200-25347200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:25346200-25347400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:25346200-25347600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:25346400-25347000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:25346400-25347000	Enhancers	Stomach Mucosa	stomach
28	chr6:25346400-25347600	Enhancers	Brain Germinal Matrix	brain
29	chr6:25346600-25347600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:25346600-25349400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:25346600-25349400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:25346600-25350400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:25346600-25359400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:25346800-25350600	Weak transcription	Small Intestine	intestine
35	chr6:25346800-25351800	Weak transcription	Fetal Intestine Small	intestine
36	chr6:25346800-25352800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:25346800-25359200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:25347000-25350400	Weak transcription	Fetal Lung	lung
39	chr6:25347000-25352400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:25347000-25354200	Weak transcription	Stomach Mucosa	stomach
41	chr6:25347000-25359400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:25347200-25351600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:25348200-25348400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:25349200-25349600	Enhancers	Aorta	Aorta
45	chr6:25349200-25359200	Weak transcription	Ovary	ovary
46	chr6:25349400-25349600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:25349400-25349600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:25349400-25349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:25349400-25351200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:25349600-25349800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links