Variant report

Variant	esv12435
Chromosome Location	chr6:11786468-11791797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11774413..11777289-chr6:11791782..11794607,2	MCF-7	breast:
2	chr6:11777595..11779965-chr6:11784636..11787369,2	K562	blood:
3	chr6:11783514..11786582-chr6:11793568..11797099,3	K562	blood:
4	chr6:11777595..11779965-chr6:11784218..11787369,4	K562	blood:
5	chr6:11782929..11785704-chr6:11787439..11790880,3	K562	blood:
6	chr6:11783098..11785498-chr6:11787669..11789597,2	K562	blood:
7	chr6:11786886..11789714-chr6:11803820..11806163,2	K562	blood:

Variant related genes	Relation type
ENSG00000111863	chromatin interactions

Extended variants
information (count: 241 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:241 , 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	rs146224033	chr6:11786478-11786479	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556342685	chr6:11786487-11786488	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139161398	chr6:11786494-11786495	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142627777	chr6:11786529-11786530	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560584419	chr6:11786535-11786536	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558961333	chr6:11786539-11786540	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572674673	chr6:11786560-11786561	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375325543	chr6:11786575-11786576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs150971277	chr6:11786594-11786595	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6457840	chr6:11786631-11786632	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs6457841	chr6:11786648-11786649	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs542696343	chr6:11786695-11786696	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562681401	chr6:11786750-11786751	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531370822	chr6:11786778-11786779	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551675999	chr6:11786796-11786797	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187101645	chr6:11786820-11786821	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140888567	chr6:11786924-11786925	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191907066	chr6:11786947-11786948	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149756476	chr6:11787005-11787006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536358613	chr6:11787006-11787007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569068176	chr6:11787051-11787052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375025267	chr6:11787059-11787060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570256290	chr6:11787075-11787076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12664869	chr6:11787106-11787107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531444648	chr6:11787112-11787113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541633396	chr6:11787202-11787203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538893136	chr6:11787211-11787212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561516202	chr6:11787243-11787244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114151402	chr6:11787265-11787266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147849653	chr6:11787320-11787321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541706305	chr6:11787336-11787337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142358897	chr6:11787367-11787368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573637841	chr6:11787421-11787422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7749712	chr6:11787517-11787518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184513051	chr6:11787529-11787530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189075523	chr6:11787536-11787537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568218017	chr6:11787552-11787553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373199987	chr6:11787553-11787554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7763031	chr6:11787567-11787568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146347831	chr6:11787598-11787599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553453206	chr6:11787644-11787645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576563051	chr6:11787688-11787689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547249454	chr6:11787721-11787722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567339466	chr6:11787732-11787733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530011995	chr6:11787749-11787750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549745182	chr6:11787771-11787772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114213093	chr6:11787800-11787801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539111874	chr6:11787845-11787846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558930996	chr6:11787850-11787851	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558768799	chr6:11787858-11787859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
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
Myelodysplastic syndrome	21251322	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	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11774000-11791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:11779800-11787800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:11785200-11787400	Enhancers	Stomach Mucosa	stomach
4	chr6:11785600-11787000	Flanking Active TSS	GM12878-XiMat	blood
5	chr6:11785800-11786600	Active TSS	Colonic Mucosa	Colon
6	chr6:11785800-11786800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:11785800-11786800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr6:11786000-11786600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:11786000-11786600	Enhancers	Gastric	stomach
10	chr6:11786000-11786800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr6:11786000-11786800	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr6:11786000-11786800	Flanking Active TSS	Fetal Intestine Large	intestine
13	chr6:11786000-11786800	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr6:11786000-11786800	Enhancers	Pancreas	Pancrea
15	chr6:11786000-11787000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:11786000-11787400	Enhancers	Primary T cells from cord blood	blood
17	chr6:11786000-11791400	Weak transcription	NHEK	skin
18	chr6:11786200-11786600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:11786200-11786600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:11786200-11786600	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr6:11786200-11786600	Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr6:11786200-11786800	Active TSS	Rectal Smooth Muscle	rectum
23	chr6:11786200-11786800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:11786200-11788600	Enhancers	Fetal Thymus	thymus
25	chr6:11786200-11790600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:11786200-11790800	Weak transcription	HMEC	breast
27	chr6:11786400-11786600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:11786400-11786600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr6:11786400-11786600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:11786400-11786800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr6:11786400-11786800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr6:11786400-11786800	Enhancers	K562	blood
33	chr6:11786400-11787000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr6:11786400-11787800	Enhancers	Dnd41	blood
35	chr6:11786600-11786800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:11786600-11786800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:11786600-11786800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr6:11786600-11786800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr6:11786600-11787000	Flanking Active TSS	Colonic Mucosa	Colon
40	chr6:11786600-11788800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:11786600-11790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:11786800-11787000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr6:11786800-11787000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:11786800-11787000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:11786800-11787000	Enhancers	Duodenum Mucosa	Duodenum
46	chr6:11786800-11787000	Enhancers	Fetal Intestine Small	intestine
47	chr6:11786800-11787200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr6:11786800-11787400	Enhancers	Fetal Intestine Large	intestine
49	chr6:11786800-11787400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:11786800-11788200	Weak transcription	K562	blood

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