Variant report

Variant	esv1826565
Chromosome Location	chr11:86304732-86306375
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	chr11:86302794..86305608-chr11:86317191..86320162,2	K562	blood:
2	chr11:86299094..86301752-chr11:86305764..86307312,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7116278	chr11:86304732-86304733	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150845877	chr11:86304755-86304756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187730511	chr11:86304792-86304793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538194276	chr11:86304795-86304796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554054907	chr11:86304882-86304883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189548778	chr11:86304950-86304951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183238060	chr11:86304969-86304970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200477311	chr11:86304985-86304986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545336448	chr11:86305040-86305041	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs7105382	chr11:86305041-86305042	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7119775	chr11:86305100-86305101	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187624133	chr11:86305101-86305102	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545346791	chr11:86305115-86305116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558672633	chr11:86305129-86305130	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs75885303	chr11:86305131-86305132	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138196493	chr11:86305229-86305230	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs149593371	chr11:86305230-86305231	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs192171358	chr11:86305246-86305247	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185315816	chr11:86305247-86305248	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74732203	chr11:86305263-86305264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs76291451	chr11:86305265-86305266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs78553840	chr11:86305266-86305267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs75471730	chr11:86305268-86305269	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375906580	chr11:86305340-86305341	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544391209	chr11:86305485-86305486	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566060589	chr11:86305580-86305581	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563957073	chr11:86305598-86305599	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs115593955	chr11:86305602-86305603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551395044	chr11:86305624-86305625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564869145	chr11:86305631-86305632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147182741	chr11:86305634-86305635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571947326	chr11:86305661-86305662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140509895	chr11:86305671-86305672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144514870	chr11:86305702-86305703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542506206	chr11:86305741-86305742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557127294	chr11:86305751-86305752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546427	chr11:86305758-86305759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs17149197	chr11:86305817-86305818	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538554692	chr11:86306042-86306043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576258674	chr11:86306071-86306072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7124121	chr11:86306097-86306098	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564739936	chr11:86306128-86306129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534809703	chr11:86306151-86306152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554613143	chr11:86306177-86306178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147442146	chr11:86306242-86306243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188582106	chr11:86306289-86306290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139439586	chr11:86306293-86306294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28446263	chr11:86306328-86306329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199971432	chr11:86306333-86306334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28494065	chr11:86306340-86306341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86297400-86308000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:86298000-86307000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:86298200-86307400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:86299400-86304800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:86300200-86305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:86300200-86308200	Weak transcription	Fetal Brain Male	brain
7	chr11:86300200-86318800	Weak transcription	Esophagus	oesophagus
8	chr11:86300800-86308800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:86301600-86304800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:86301600-86307000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:86302200-86309000	Enhancers	HUVEC	blood vessel
12	chr11:86302400-86304800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:86302400-86306600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:86302400-86306800	Enhancers	HMEC	breast
15	chr11:86302600-86307000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:86302800-86304800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:86303000-86304800	Enhancers	HepG2	liver
18	chr11:86303000-86306000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:86303000-86306800	Enhancers	NHDF-Ad	bronchial
20	chr11:86303000-86307000	Enhancers	NHEK	skin
21	chr11:86303200-86306600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr11:86303200-86306800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:86303400-86304800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:86303400-86304800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr11:86303400-86304800	Enhancers	Stomach Mucosa	stomach
26	chr11:86303600-86307200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr11:86304000-86305400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:86304000-86306600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:86304000-86306600	Weak transcription	Fetal Intestine Large	intestine
30	chr11:86304000-86306600	Weak transcription	Fetal Intestine Small	intestine
31	chr11:86304200-86305400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:86304200-86305800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:86304200-86306600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:86304200-86306600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:86304200-86306600	Weak transcription	Pancreas	Pancrea
36	chr11:86304200-86306600	Weak transcription	Psoas Muscle	Psoas
37	chr11:86304200-86308000	Weak transcription	Aorta	Aorta
38	chr11:86304200-86308000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:86304200-86308200	Weak transcription	Fetal Stomach	stomach
40	chr11:86304400-86304800	Enhancers	GM12878-XiMat	blood
41	chr11:86304400-86305400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:86304400-86305400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:86304400-86305400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:86304400-86305400	Weak transcription	Left Ventricle	heart
45	chr11:86304400-86305600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:86304400-86305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:86304400-86305600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:86304400-86305600	Weak transcription	NH-A	brain
49	chr11:86304400-86305800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:86304400-86305800	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links