Variant report

Variant	nsv8875
Chromosome Location	chr11:121486151-121489601
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	chr11:121488832..121492923-chr11:121494735..121499119,4	K562	blood:

Variant related genes	Relation type
ENSG00000137642	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73595299	chr11:121486304-121486305	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570359613	chr11:121486358-121486359	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377399054	chr11:121486360-121486361	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548380663	chr11:121486365-121486366	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370446977	chr11:121486366-121486367	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182387011	chr11:121486433-121486434	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111428694	chr11:121486515-121486516	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558745794	chr11:121486550-121486551	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1503415	chr11:121486552-121486553	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs114506371	chr11:121486560-121486561	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11825063	chr11:121486633-121486634	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575622422	chr11:121486708-121486709	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542896575	chr11:121486747-121486748	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554771293	chr11:121486754-121486755	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1503414	chr11:121486782-121486783	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1503413	chr11:121486814-121486815	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564805317	chr11:121486868-121486869	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531280500	chr11:121486892-121486893	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187424182	chr11:121486932-121486933	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543795400	chr11:121486938-121486939	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191958248	chr11:121486948-121486949	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530327191	chr11:121486982-121486983	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184195349	chr11:121486995-121486996	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568389727	chr11:121487041-121487042	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527863715	chr11:121487096-121487097	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552687515	chr11:121487125-121487126	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555931301	chr11:121487127-121487128	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570849911	chr11:121487152-121487153	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538303911	chr11:121487219-121487220	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188749030	chr11:121487229-121487230	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192813189	chr11:121487237-121487238	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536566026	chr11:121487238-121487239	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73595301	chr11:121487250-121487251	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184370221	chr11:121487286-121487287	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554111704	chr11:121487293-121487294	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371218511	chr11:121487304-121487305	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558659665	chr11:121487345-121487346	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12576563	chr11:121487346-121487347	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10790447	chr11:121487372-121487373	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562164238	chr11:121487379-121487380	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574057605	chr11:121487386-121487387	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542543344	chr11:121487390-121487391	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539659929	chr11:121487415-121487416	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370970228	chr11:121487461-121487462	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560621042	chr11:121487477-121487478	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188131213	chr11:121487490-121487491	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552506861	chr11:121487519-121487520	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570821350	chr11:121487567-121487568	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7127056	chr11:121487607-121487608	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576490862	chr11:121487627-121487628	Weak transcription Strong transcription	n/a	n/a	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:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121448800-121495600	Weak transcription	Stomach Mucosa	stomach
2	chr11:121451200-121488200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:121453200-121504200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:121453400-121491200	Weak transcription	Small Intestine	intestine
5	chr11:121453400-121505400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:121454000-121503800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:121454400-121504000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr11:121454800-121503600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:121455600-121503800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:121456600-121501200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:121458000-121495000	Weak transcription	Right Ventricle	heart
12	chr11:121459200-121501400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr11:121460400-121491800	Weak transcription	Left Ventricle	heart
14	chr11:121461000-121491200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:121461400-121506200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:121461800-121505400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:121462200-121490400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:121462200-121500400	Strong transcription	Fetal Thymus	thymus
19	chr11:121462200-121503600	Strong transcription	Primary B cells from cord blood	blood
20	chr11:121462200-121504200	Strong transcription	Dnd41	blood
21	chr11:121462200-121505600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr11:121462200-121505800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:121462400-121505200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:121462600-121495200	Weak transcription	Fetal Brain Male	brain
25	chr11:121462600-121503400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:121463000-121525400	Weak transcription	Fetal Kidney	kidney
27	chr11:121463200-121504000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr11:121463400-121505200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:121463600-121487000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:121464600-121506000	Strong transcription	GM12878-XiMat	blood
31	chr11:121465400-121486800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:121467400-121488200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:121468200-121501800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:121469400-121496400	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:121470400-121503800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:121472200-121487200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:121472200-121503400	Strong transcription	Fetal Intestine Large	intestine
38	chr11:121472400-121496800	Strong transcription	NHEK	skin
39	chr11:121472400-121502800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:121472600-121500200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:121472600-121503400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr11:121472600-121504000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:121472600-121505800	Strong transcription	Primary T cells from cord blood	blood
44	chr11:121473200-121503400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:121473400-121493400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:121473800-121503400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:121474000-121496800	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:121474800-121487400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:121474800-121489000	Strong transcription	Thymus	Thymus
50	chr11:121474800-121505200	Strong transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links