Variant report

Variant	esv3443359
Chromosome Location	chr9:93798631-93803029
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93677265..93679731-chr9:93797817..93800776,2	MCF-7	breast:
2	chr9:93747626..93749444-chr9:93797575..93800020,2	MCF-7	breast:
3	chr9:93744053..93746493-chr9:93797661..93799337,2	K562	blood:
4	chr9:93799113..93799705-chr9:94187764..94188556,2	MCF-7	breast:
5	chr9:93798539..93802041-chr9:94184980..94187268,5	MCF-7	breast:
6	chr9:93798149..93801072-chr9:94184955..94188043,3	K562	blood:
7	chr9:93799782..93801478-chr9:93805861..93808673,2	MCF-7	breast:
8	chr9:93799032..93800018-chr9:94188281..94189014,4	MCF-7	breast:
9	chr9:93800066..93802604-chr9:93953362..93956016,2	MCF-7	breast:
10	chr9:93799539..93800255-chr9:102860956..102861497,2	Hela-S3	cervix:
11	chr9:93752160..93754281-chr9:93798521..93801349,2	MCF-7	breast:
12	chr9:93800096..93803076-chr9:93836959..93839834,2	K562	blood:
13	chr9:93797874..93801408-chr9:93805945..93809060,4	MCF-7	breast:
14	chr9:93797668..93803133-chr9:94183972..94188624,9	MCF-7	breast:
15	chr9:93798149..93802099-chr9:94185060..94188043,3	K562	blood:
16	chr9:93798950..93801192-chr9:94180213..94183169,2	MCF-7	breast:
17	chr9:93800619..93803174-chr9:94123561..94125235,2	K562	blood:
18	chr9:93786992..93789003-chr9:93797212..93799731,2	MCF-7	breast:
19	chr9:93797970..93799747-chr9:93818400..93820922,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165030	chromatin interactions
ENSG00000023318	chromatin interactions
ENSG00000233081	chromatin interactions
ENSG00000148090	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:185 , 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	rs753790	chr9:93798681-93798682	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs753791	chr9:93798699-93798700	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541791769	chr9:93798721-93798722	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576198455	chr9:93798807-93798808	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535263986	chr9:93798868-93798869	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555476647	chr9:93798882-93798883	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183054519	chr9:93798905-93798906	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149572451	chr9:93798935-93798936	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186838548	chr9:93798937-93798938	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs577177714	chr9:93798938-93798939	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546493767	chr9:93798944-93798945	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563012197	chr9:93798945-93798946	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531961946	chr9:93798946-93798947	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557050008	chr9:93798948-93798949	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562203795	chr9:93798960-93798961	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527782183	chr9:93798988-93798989	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547864377	chr9:93799041-93799042	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs143266296	chr9:93799101-93799102	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575680496	chr9:93799102-93799103	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539415061	chr9:93799167-93799168	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550068403	chr9:93799210-93799211	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs751279	chr9:93799238-93799239	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535683715	chr9:93799281-93799282	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555272381	chr9:93799326-93799327	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564571174	chr9:93799344-93799345	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571864976	chr9:93799361-93799362	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534424453	chr9:93799374-93799375	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs557398310	chr9:93799377-93799378	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs114760492	chr9:93799410-93799411	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs190138588	chr9:93799411-93799412	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28599657	chr9:93799427-93799428	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139168221	chr9:93799428-93799429	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542455723	chr9:93799461-93799462	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs182670339	chr9:93799473-93799474	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs562268697	chr9:93799481-93799482	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs527844587	chr9:93799482-93799483	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs547925778	chr9:93799491-93799492	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs187665255	chr9:93799537-93799538	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs567038093	chr9:93799547-93799548	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs79919776	chr9:93799563-93799564	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs371211822	chr9:93799596-93799597	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs78618562	chr9:93799614-93799615	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs569983648	chr9:93799615-93799616	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs34742990	chr9:93799630-93799631	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs199871865	chr9:93799635-93799636	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs529180731	chr9:93799639-93799640	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs143594365	chr9:93799665-93799666	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs565555607	chr9:93799672-93799673	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs77996691	chr9:93799679-93799680	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs200342014	chr9:93799685-93799686	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Bipolar disorder	18458673	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
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93793600-93799400	Weak transcription	Liver	Liver
2	chr9:93794800-93799200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:93795800-93798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:93796000-93800200	Enhancers	Primary B cells from peripheral blood	blood
5	chr9:93796200-93799000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:93796400-93799200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:93796800-93798800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:93796800-93799200	Enhancers	HepG2	liver
9	chr9:93797000-93799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:93797400-93801200	Enhancers	Placenta	Placenta
11	chr9:93797600-93800400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:93797800-93799000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr9:93797800-93799200	Weak transcription	Spleen	Spleen
14	chr9:93797800-93799800	Enhancers	GM12878-XiMat	blood
15	chr9:93798200-93799200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:93798200-93800000	Enhancers	Dnd41	blood
17	chr9:93798200-93801000	Enhancers	Esophagus	oesophagus
18	chr9:93798400-93799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:93798400-93799200	Weak transcription	Fetal Intestine Small	intestine
20	chr9:93798400-93799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:93798400-93800400	Enhancers	Fetal Lung	lung
22	chr9:93798600-93799000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr9:93798600-93799000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr9:93798600-93799400	Enhancers	Duodenum Mucosa	Duodenum
25	chr9:93798600-93802000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:93798600-93802400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:93798800-93799200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:93798800-93799400	Bivalent Enhancer	Thymus	Thymus
29	chr9:93798800-93799600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr9:93798800-93800000	Enhancers	Fetal Thymus	thymus
31	chr9:93798800-93800400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:93798800-93800600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:93798800-93800800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:93799000-93799200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr9:93799000-93799200	Enhancers	A549	lung
36	chr9:93799000-93799400	Enhancers	Stomach Smooth Muscle	stomach
37	chr9:93799000-93799600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr9:93799000-93800000	Enhancers	Primary hematopoietic stem cells	blood
39	chr9:93799000-93800000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr9:93799000-93800000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr9:93799000-93800000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr9:93799000-93800200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr9:93799000-93800200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr9:93799000-93800600	Enhancers	NH-A	brain
45	chr9:93799000-93800800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:93799000-93801000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:93799000-93801200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:93799000-93802800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:93799200-93799400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr9:93799200-93799400	Enhancers	Primary T helper cells fromperipheralblood	blood

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