Variant report

Variant	nsv962485
Chromosome Location	chr18:9536419-9537703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9404554..9406129-chr18:9536723..9538920,2	K562	blood:
2	chr18:9530961..9533128-chr18:9534267..9536483,2	K562	blood:
3	chr18:9536152..9537678-chr18:9540300..9542905,2	K562	blood:
4	chr1:43464090..43465590-chr18:9537274..9539847,2	K562	blood:
5	chr18:9534609..9536711-chr18:9542982..9545510,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568594632	chr18:9536423-9536424	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs574108592	chr18:9536440-9536441	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs536362575	chr18:9536441-9536442	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs374205484	chr18:9536464-9536465	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs576156519	chr18:9536468-9536469	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs542884940	chr18:9536545-9536546	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs377125415	chr18:9536584-9536585	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs537024767	chr18:9536592-9536593	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs558929594	chr18:9536630-9536631	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577080490	chr18:9536631-9536632	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs3321	chr18:9536650-9536651	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541271131	chr18:9536652-9536653	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530865567	chr18:9536667-9536668	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs3322	chr18:9536691-9536692	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs574563154	chr18:9536708-9536709	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144400646	chr18:9536731-9536732	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541965715	chr18:9536741-9536742	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs563419661	chr18:9536752-9536753	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530847066	chr18:9536754-9536755	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs531797617	chr18:9536838-9536839	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190876967	chr18:9536887-9536888	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564479488	chr18:9536965-9536966	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182972888	chr18:9536968-9536969	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185899016	chr18:9536985-9536986	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568601515	chr18:9536994-9536995	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551991838	chr18:9537007-9537008	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140996592	chr18:9537010-9537011	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527739682	chr18:9537087-9537088	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369861791	chr18:9537089-9537090	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16955192	chr18:9537097-9537098	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs575109323	chr18:9537150-9537151	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374053155	chr18:9537224-9537225	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574731787	chr18:9537226-9537227	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558269464	chr18:9537254-9537255	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570385213	chr18:9537283-9537284	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534649809	chr18:9537480-9537481	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376166475	chr18:9537524-9537525	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192480820	chr18:9537605-9537606	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567631222	chr18:9537684-9537685	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9513600-9537800	Weak transcription	Fetal Brain Male	brain
2	chr18:9521400-9541800	Strong transcription	Fetal Stomach	stomach
3	chr18:9521600-9540800	Strong transcription	Fetal Thymus	thymus
4	chr18:9521800-9540400	Strong transcription	Dnd41	blood
5	chr18:9521800-9540600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:9522000-9538400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr18:9522000-9538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr18:9522200-9539000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:9522200-9540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:9522600-9539200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr18:9522600-9540400	Strong transcription	Fetal Intestine Large	intestine
12	chr18:9525800-9547200	Weak transcription	Stomach Mucosa	stomach
13	chr18:9526600-9540400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr18:9526800-9552600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr18:9527600-9546200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:9528000-9546600	Weak transcription	Fetal Kidney	kidney
17	chr18:9528600-9547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:9529600-9539000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr18:9529800-9538000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:9529800-9540600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr18:9529800-9541000	Strong transcription	Primary T cells from cord blood	blood
22	chr18:9530000-9536600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr18:9530000-9536800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr18:9530000-9536800	Strong transcription	K562	blood
25	chr18:9530000-9538200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr18:9530000-9538400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr18:9530000-9538800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr18:9530000-9540600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr18:9530200-9538200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr18:9530200-9539000	Strong transcription	Left Ventricle	heart
31	chr18:9530200-9540600	Strong transcription	Fetal Lung	lung
32	chr18:9530200-9540800	Strong transcription	Thymus	Thymus
33	chr18:9530400-9536800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr18:9530600-9541200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr18:9530800-9540600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr18:9530800-9540800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr18:9530800-9541000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:9531200-9540400	Strong transcription	Primary B cells from cord blood	blood
39	chr18:9531400-9537200	Strong transcription	HSMMtube	muscle
40	chr18:9531400-9538000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr18:9531400-9540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:9531600-9537000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:9531600-9540600	Strong transcription	Liver	Liver
44	chr18:9531600-9540600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr18:9531600-9540800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr18:9531800-9536800	Strong transcription	Small Intestine	intestine
47	chr18:9531800-9538800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr18:9532000-9536800	Strong transcription	Pancreas	Pancrea
49	chr18:9532000-9539000	Strong transcription	Lung	lung
50	chr18:9532200-9537200	Strong transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links