Variant report

Variant	esv3401284
Chromosome Location	chr11:121347342-121351640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:121322388..121323229-chr11:121348116..121348867,2	MCF-7	breast:
2	chr11:121349714..121351263-chr11:121424712..121427003,2	MCF-7	breast:
3	chr11:121322245..121324766-chr11:121347712..121349803,2	MCF-7	breast:
4	chr11:121351542..121352360-chr8:15938176..15938676,2	NB4	blood:
5	chr11:121349423..121350071-chr14:29750906..29751406,2	NB4	blood:
6	chr11:121322800..121324448-chr11:121348975..121350802,2	MCF-7	breast:
7	chr11:121330064..121332974-chr11:121346405..121349549,4	MCF-7	breast:
8	chr11:121322967..121323671-chr11:121349598..121350353,2	MCF-7	breast:
9	chr11:121342384..121344746-chr11:121348986..121351578,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246790	chromatin interactions
ENSG00000137642	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:209 , 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	rs11218303	chr11:121347407-121347408	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553612012	chr11:121347467-121347468	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148610287	chr11:121347513-121347514	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182602584	chr11:121347515-121347516	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142127496	chr11:121347583-121347584	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186881271	chr11:121347584-121347585	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61905186	chr11:121347594-121347595	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147793724	chr11:121347665-121347666	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561333094	chr11:121347693-121347694	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192232929	chr11:121347819-121347820	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185072690	chr11:121347873-121347874	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190811545	chr11:121347878-121347879	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375868018	chr11:121347912-121347913	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141193959	chr11:121347913-121347914	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs193079279	chr11:121347960-121347961	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs532987848	chr11:121347961-121347962	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs599920	chr11:121347972-121347973	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573587384	chr11:121348020-121348021	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145256206	chr11:121348033-121348034	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548703163	chr11:121348085-121348086	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540934431	chr11:121348126-121348127	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs555855757	chr11:121348196-121348197	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs185517717	chr11:121348270-121348271	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371717211	chr11:121348287-121348288	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553607374	chr11:121348289-121348290	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539273085	chr11:121348345-121348346	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs117310840	chr11:121348347-121348348	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368229627	chr11:121348362-121348363	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575696559	chr11:121348369-121348370	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543062980	chr11:121348402-121348403	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs188306628	chr11:121348416-121348417	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs572873268	chr11:121348417-121348418	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs540211090	chr11:121348452-121348453	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs559257149	chr11:121348488-121348489	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs180768516	chr11:121348513-121348514	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112447434	chr11:121348533-121348534	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs36030631	chr11:121348536-121348537	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563498948	chr11:121348541-121348542	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs185774016	chr11:121348566-121348567	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs563447563	chr11:121348602-121348603	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188617629	chr11:121348630-121348631	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147602246	chr11:121348659-121348660	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs138337334	chr11:121348742-121348743	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs567294360	chr11:121348758-121348759	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs372918202	chr11:121348761-121348762	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs371963606	chr11:121348762-121348763	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528123842	chr11:121348833-121348834	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142076280	chr11:121348841-121348842	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs140888526	chr11:121348842-121348843	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375743724	chr11:121348850-121348851	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121337400-121349400	Weak transcription	Ovary	ovary
2	chr11:121337400-121350600	Weak transcription	Left Ventricle	heart
3	chr11:121337400-121358800	Weak transcription	Right Ventricle	heart
4	chr11:121337600-121358800	Weak transcription	Brain Germinal Matrix	brain
5	chr11:121338200-121348800	Weak transcription	Colonic Mucosa	Colon
6	chr11:121338200-121349000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:121339000-121349200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:121339000-121358200	Weak transcription	Aorta	Aorta
9	chr11:121339200-121348200	Weak transcription	Pancreas	Pancrea
10	chr11:121339200-121348800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:121339200-121349000	Weak transcription	Lung	lung
12	chr11:121339200-121349000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:121339800-121351000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr11:121339800-121351000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:121340000-121348200	Weak transcription	Esophagus	oesophagus
16	chr11:121340000-121349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:121340400-121349400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:121340600-121348400	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr11:121340800-121349000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr11:121340800-121351400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:121341000-121348200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:121341000-121349600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:121341200-121349000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr11:121342200-121348600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:121342200-121349000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:121342400-121347400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:121342400-121347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:121342400-121353000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:121342600-121349000	Weak transcription	Primary B cells from cord blood	blood
30	chr11:121342600-121349600	Weak transcription	Fetal Stomach	stomach
31	chr11:121342800-121348000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:121342800-121348200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:121342800-121348600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:121342800-121348600	Weak transcription	Spleen	Spleen
35	chr11:121342800-121348800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:121343000-121348200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:121343000-121348800	Weak transcription	Fetal Lung	lung
38	chr11:121343000-121348800	Weak transcription	Thymus	Thymus
39	chr11:121343400-121348800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:121343800-121349000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:121343800-121349200	Weak transcription	Fetal Brain Male	brain
42	chr11:121344200-121349000	Weak transcription	Brain Angular Gyrus	brain
43	chr11:121344200-121349000	Weak transcription	Fetal Brain Female	brain
44	chr11:121344200-121358200	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:121344400-121348800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:121344400-121349000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:121344600-121350800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr11:121344800-121348800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:121344800-121348800	Weak transcription	Brain Anterior Caudate	brain
50	chr11:121344800-121349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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