Variant report

Variant	nsv528933
Chromosome Location	chr9:101784777-101788522
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101782595..101784230-chr9:101785784..101788203,2	MCF-7	breast:
2	chr9:101788010..101791486-chr9:101836576..101838981,4	K562	blood:
3	chr9:101782641..101786481-chr9:101865510..101868655,3	MCF-7	breast:
4	chr9:101780306..101785966-chr9:101786034..101790764,8	K562	blood:
5	chr9:101775654..101777747-chr9:101787081..101788850,2	K562	blood:
6	chr9:101788302..101790409-chr9:101792306..101794930,2	MCF-7	breast:
7	chr9:101774409..101777052-chr9:101782515..101785003,2	K562	blood:
8	chr9:101783791..101786672-chr9:101794290..101796962,2	K562	blood:
9	chr9:101782750..101786222-chr9:101835622..101838699,3	K562	blood:
10	chr9:101780306..101785966-chr9:101786034..101790764,8	K562	blood:
11	chr9:101782923..101785154-chr9:101866625..101868401,2	K562	blood:
12	chr9:101786238..101788647-chr9:101789289..101792240,2	K562	blood:
13	chr9:101779716..101783952-chr9:101784927..101791325,8	K562	blood:
14	chr9:101783186..101785549-chr9:101797018..101799423,2	K562	blood:
15	chr9:101782750..101786222-chr9:101834554..101837470,3	K562	blood:
16	chr9:101705553..101708180-chr9:101788148..101790711,2	K562	blood:
17	chr9:101786925..101789354-chr9:101811667..101813513,2	K562	blood:
18	chr9:101767464..101769714-chr9:101783800..101785964,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270412	chromatin interactions
ENSG00000204291	chromatin interactions
ENSG00000106799	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3739799	chr9:101784777-101784778	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370380001	chr9:101784860-101784861	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73503744	chr9:101784896-101784897	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540198293	chr9:101784908-101784909	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370339490	chr9:101784916-101784917	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529172540	chr9:101784999-101785000	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186904382	chr9:101785025-101785026	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568942821	chr9:101785075-101785076	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531562876	chr9:101785092-101785093	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551183032	chr9:101785104-101785105	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554691827	chr9:101785132-101785133	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73503746	chr9:101785141-101785142	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140008709	chr9:101785152-101785153	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553702288	chr9:101785205-101785206	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12552765	chr9:101785207-101785208	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536532263	chr9:101785228-101785229	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73503747	chr9:101785254-101785255	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540413859	chr9:101785332-101785333	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576536994	chr9:101785337-101785338	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374400184	chr9:101785345-101785346	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375388269	chr9:101785355-101785356	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73503749	chr9:101785369-101785370	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577769560	chr9:101785371-101785372	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540379669	chr9:101785424-101785425	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs72737281	chr9:101785435-101785436	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528918064	chr9:101785443-101785444	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369618990	chr9:101785465-101785466	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556180047	chr9:101785466-101785467	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376643453	chr9:101785500-101785501	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577917112	chr9:101785511-101785512	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542537654	chr9:101785527-101785528	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562774980	chr9:101785528-101785529	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545296375	chr9:101785541-101785542	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7848837	chr9:101785558-101785559	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs370493591	chr9:101785585-101785586	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7861925	chr9:101785598-101785599	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs367564292	chr9:101785599-101785600	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548959271	chr9:101785616-101785617	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374970619	chr9:101785620-101785621	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs199707941	chr9:101785624-101785625	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369198993	chr9:101785630-101785631	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7851787	chr9:101785633-101785634	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs34844374	chr9:101785653-101785654	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147463312	chr9:101785658-101785659	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567533982	chr9:101785659-101785660	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142863109	chr9:101785666-101785667	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145460696	chr9:101785675-101785676	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199674083	chr9:101785679-101785680	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546379223	chr9:101785683-101785684	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549926116	chr9:101785684-101785685	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Melanoma	18172304	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
Acute myeloid leukemia	21251322	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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101761600-101814400	Weak transcription	Gastric	stomach
2	chr9:101761800-101785200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr9:101768800-101787200	Weak transcription	Right Atrium	heart
4	chr9:101769000-101790400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:101773000-101793600	Weak transcription	Aorta	Aorta
6	chr9:101775400-101784800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr9:101775600-101785200	Strong transcription	Adipose Nuclei	Adipose
8	chr9:101776600-101790200	Weak transcription	Fetal Intestine Small	intestine
9	chr9:101777000-101785600	Weak transcription	Thymus	Thymus
10	chr9:101777000-101788000	Weak transcription	Esophagus	oesophagus
11	chr9:101777400-101785800	Strong transcription	Fetal Stomach	stomach
12	chr9:101777800-101786000	Strong transcription	Colon Smooth Muscle	Colon
13	chr9:101779400-101785600	Weak transcription	Ovary	ovary
14	chr9:101779400-101788600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:101781200-101786000	Genic enhancers	Placenta	Placenta
16	chr9:101781200-101791800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:101781800-101784800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr9:101782000-101788400	Weak transcription	K562	blood
19	chr9:101782000-101819800	Weak transcription	Colonic Mucosa	Colon
20	chr9:101782200-101784800	Enhancers	Hela-S3	cervix
21	chr9:101782800-101784800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr9:101782800-101785200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:101783000-101786000	Weak transcription	Brain Anterior Caudate	brain
24	chr9:101783200-101785000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:101783200-101786000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:101783200-101786000	Weak transcription	HSMM	muscle
27	chr9:101783400-101786000	Weak transcription	Osteobl	bone
28	chr9:101783800-101785000	Strong transcription	Pancreas	Pancrea
29	chr9:101784000-101785600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:101784000-101786000	Weak transcription	NHDF-Ad	bronchial
31	chr9:101784200-101785000	Strong transcription	Right Ventricle	heart
32	chr9:101784200-101785400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:101784200-101785400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr9:101784200-101785600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:101784400-101785200	Strong transcription	Left Ventricle	heart
36	chr9:101784400-101786400	Genic enhancers	Stomach Smooth Muscle	stomach
37	chr9:101784600-101785000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr9:101784600-101785600	Strong transcription	Rectal Smooth Muscle	rectum
39	chr9:101784600-101785800	Weak transcription	HSMMtube	muscle
40	chr9:101784600-101786600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr9:101784800-101785800	Weak transcription	Hela-S3	cervix
42	chr9:101784800-101786400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr9:101784800-101786400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr9:101784800-101786600	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr9:101785000-101785200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:101785000-101785600	Enhancers	Fetal Thymus	thymus
47	chr9:101785000-101786400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr9:101785000-101788000	Weak transcription	Pancreas	Pancrea
49	chr9:101785000-101788200	Weak transcription	Right Ventricle	heart
50	chr9:101785200-101786000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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