Variant report

Variant	nsv968742
Chromosome Location	chr9:108471448-108472808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:108465735..108468384-chr9:108469174..108471784,2	K562	blood:
2	chr9:108455042..108457950-chr9:108472079..108474194,2	K562	blood:
3	chr9:108459267..108461864-chr9:108470911..108472758,2	K562	blood:
4	chr9:108469613..108472169-chr9:108477924..108480274,2	K562	blood:

Variant related genes	Relation type
ENSG00000095209	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182998565	chr9:108471457-108471458	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10759130	chr9:108471458-108471459	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs569960067	chr9:108471513-108471514	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111357190	chr9:108471541-108471542	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10733555	chr9:108471563-108471564	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs141918988	chr9:108471589-108471590	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534548073	chr9:108471602-108471603	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374405157	chr9:108471661-108471662	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571694848	chr9:108471674-108471675	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538637878	chr9:108471717-108471718	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533831158	chr9:108471720-108471721	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557860690	chr9:108471727-108471728	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556896763	chr9:108471758-108471759	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78587887	chr9:108471773-108471774	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542886716	chr9:108471884-108471885	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10978213	chr9:108471885-108471886	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs374696978	chr9:108471912-108471913	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187535822	chr9:108471915-108471916	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs150247002	chr9:108471920-108471921	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs569197910	chr9:108471940-108471941	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs559397965	chr9:108471949-108471950	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs17281274	chr9:108471952-108471953	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116651509	chr9:108472035-108472036	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs73518122	chr9:108472036-108472037	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs72730836	chr9:108472046-108472047	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376075372	chr9:108472061-108472062	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73518124	chr9:108472110-108472111	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369769424	chr9:108472112-108472113	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147388010	chr9:108472115-108472116	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545642575	chr9:108472170-108472171	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528283893	chr9:108472222-108472223	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546517998	chr9:108472253-108472254	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538321821	chr9:108472265-108472266	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112251584	chr9:108472275-108472276	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34883934	chr9:108472290-108472291	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186170743	chr9:108472291-108472292	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376211648	chr9:108472303-108472304	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111270895	chr9:108472311-108472312	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557054833	chr9:108472390-108472391	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568878851	chr9:108472391-108472392	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536281204	chr9:108472477-108472478	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367603560	chr9:108472515-108472516	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113586462	chr9:108472567-108472568	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139421157	chr9:108472576-108472577	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373062359	chr9:108472622-108472623	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112157643	chr9:108472673-108472674	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192626634	chr9:108472708-108472709	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573506001	chr9:108472747-108472748	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540814647	chr9:108472755-108472756	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558845031	chr9:108472781-108472782	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108457800-108472800	Weak transcription	Spleen	Spleen
2	chr9:108457800-108476200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:108457800-108492200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:108458000-108472400	Weak transcription	HSMM	muscle
5	chr9:108458000-108473000	Weak transcription	Left Ventricle	heart
6	chr9:108458000-108475200	Weak transcription	Fetal Thymus	thymus
7	chr9:108458000-108475600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:108458000-108475600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:108458000-108475600	Weak transcription	Thymus	Thymus
10	chr9:108458000-108476000	Weak transcription	Ovary	ovary
11	chr9:108458000-108479200	Weak transcription	Fetal Brain Male	brain
12	chr9:108458000-108497800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:108458200-108476400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:108458200-108478800	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:108458200-108480800	Weak transcription	Brain Angular Gyrus	brain
16	chr9:108458200-108491400	Weak transcription	HSMMtube	muscle
17	chr9:108458200-108491600	Weak transcription	Brain Anterior Caudate	brain
18	chr9:108458200-108495400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:108458200-108497000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:108458600-108472600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:108459000-108476000	Weak transcription	Fetal Brain Female	brain
22	chr9:108459200-108472400	Weak transcription	Dnd41	blood
23	chr9:108459200-108489400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:108462600-108472600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr9:108463200-108478400	Weak transcription	Hela-S3	cervix
26	chr9:108463200-108496800	Weak transcription	HepG2	liver
27	chr9:108463400-108487600	Weak transcription	Primary B cells from cord blood	blood
28	chr9:108463800-108472400	Weak transcription	K562	blood
29	chr9:108464000-108474800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:108464200-108474800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:108464400-108471800	Weak transcription	Psoas Muscle	Psoas
32	chr9:108464400-108476000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:108465000-108496600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr9:108465600-108476200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:108466200-108476200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr9:108466800-108478400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:108467200-108473400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr9:108467800-108472800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:108467800-108474200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:108468400-108475000	Weak transcription	Right Ventricle	heart
41	chr9:108468800-108475400	Weak transcription	Fetal Stomach	stomach
42	chr9:108469000-108476200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr9:108469000-108485000	Weak transcription	Small Intestine	intestine
44	chr9:108469200-108472800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr9:108469200-108475000	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:108469200-108476000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:108469200-108478000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:108469400-108472400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr9:108469400-108473000	Weak transcription	Fetal Intestine Small	intestine
50	chr9:108469600-108472400	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links