Variant report

Variant	esv1792912
Chromosome Location	chr6:25349637-25354122
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	chr6:25279234..25281745-chr6:25353189..25355641,3	MCF-7	breast:
3	chr6:25348848..25351253-chr6:25357378..25359021,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079691	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs540551437	chr6:25349650-25349651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77482574	chr6:25349651-25349652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138878706	chr6:25349714-25349715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545098799	chr6:25349793-25349794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564591754	chr6:25349810-25349811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187023518	chr6:25349814-25349815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141930345	chr6:25349825-25349826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189753040	chr6:25349843-25349844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192265543	chr6:25349878-25349879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184372607	chr6:25349879-25349880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546575115	chr6:25349893-25349894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566696457	chr6:25349914-25349915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532165834	chr6:25349933-25349934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76644396	chr6:25349953-25349954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs67971403	chr6:25349954-25349955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75004135	chr6:25349974-25349975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7750545	chr6:25349996-25349997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569344876	chr6:25350006-25350007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7770521	chr6:25350023-25350024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555034115	chr6:25350099-25350100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188757169	chr6:25350102-25350103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145655407	chr6:25350157-25350158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7750609	chr6:25350190-25350191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547319280	chr6:25350197-25350198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577372664	chr6:25350260-25350261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142705729	chr6:25350272-25350273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558246738	chr6:25350288-25350289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181952246	chr6:25350324-25350325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543880481	chr6:25350358-25350359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150560961	chr6:25350371-25350372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6456676	chr6:25350468-25350469	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540528355	chr6:25350484-25350485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6456677	chr6:25350490-25350491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73383404	chr6:25350528-25350529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139543582	chr6:25350551-25350552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187251966	chr6:25350571-25350572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149299369	chr6:25350620-25350621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548695268	chr6:25350656-25350657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77529164	chr6:25350658-25350659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16890448	chr6:25350666-25350667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76537146	chr6:25350708-25350709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571023645	chr6:25350737-25350738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189320474	chr6:25350745-25350746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144476218	chr6:25350746-25350747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576225530	chr6:25350751-25350752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77192487	chr6:25350760-25350761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554324573	chr6:25350766-25350767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574375199	chr6:25350773-25350774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139581790	chr6:25350791-25350792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180815965	chr6:25350871-25350872	Weak transcription Enhancers	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:99 , 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	chr6:25341000-25352800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:25341000-25359400	Weak transcription	Pancreas	Pancrea
7	chr6:25342400-25350600	Weak transcription	HSMMtube	muscle
8	chr6:25342800-25351800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:25342800-25354400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:25343000-25352600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:25343800-25350600	Weak transcription	Fetal Intestine Large	intestine
12	chr6:25343800-25354000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:25344000-25350600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:25346600-25350400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:25346600-25359400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:25346800-25350600	Weak transcription	Small Intestine	intestine
17	chr6:25346800-25351800	Weak transcription	Fetal Intestine Small	intestine
18	chr6:25346800-25352800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:25346800-25359200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:25347000-25350400	Weak transcription	Fetal Lung	lung
21	chr6:25347000-25352400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:25347000-25354200	Weak transcription	Stomach Mucosa	stomach
23	chr6:25347000-25359400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:25347200-25351600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:25349200-25359200	Weak transcription	Ovary	ovary
26	chr6:25349400-25351200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:25349600-25349800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:25349600-25350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:25349600-25350200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:25349600-25354200	Weak transcription	Aorta	Aorta
31	chr6:25350000-25350800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:25350200-25350800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:25350200-25350800	Enhancers	Lung	lung
34	chr6:25350400-25350600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:25350400-25351200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:25350400-25355200	Enhancers	Fetal Lung	lung
37	chr6:25350600-25350800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:25350600-25350800	Enhancers	Fetal Thymus	thymus
39	chr6:25350600-25350800	Enhancers	Left Ventricle	heart
40	chr6:25350600-25351400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:25350600-25351400	Enhancers	Small Intestine	intestine
42	chr6:25350600-25351400	Enhancers	Stomach Smooth Muscle	stomach
43	chr6:25350600-25351800	Enhancers	HSMMtube	muscle
44	chr6:25350600-25352600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:25350600-25356000	Enhancers	Fetal Intestine Large	intestine
46	chr6:25350800-25351000	Enhancers	Brain Anterior Caudate	brain
47	chr6:25350800-25352800	Weak transcription	Fetal Thymus	thymus
48	chr6:25350800-25359200	Weak transcription	Lung	lung
49	chr6:25351000-25351200	Enhancers	Primary T cells from cord blood	blood
50	chr6:25351000-25351400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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