Variant report

Variant	esv2789
Chromosome Location	chr9:71804473-71805229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71800754..71805797-chr9:71805912..71810495,5	K562	blood:
2	chr9:71735548..71738179-chr9:71802464..71805527,4	MCF-7	breast:
3	chr9:71650082..71652083-chr9:71804483..71806988,2	K562	blood:
4	chr9:71788912..71791294-chr9:71803857..71806378,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165060	chromatin interactions
ENSG00000119139	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 57 )

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	rs186087941	chr9:71804479-71804480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11145615	chr9:71804497-71804498	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs578100407	chr9:71804504-71804505	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs374772106	chr9:71804511-71804512	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs60327836	chr9:71804528-71804529	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548739464	chr9:71804532-71804533	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs62567132	chr9:71804535-71804536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs57854304	chr9:71804538-71804539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568448069	chr9:71804539-71804540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527714773	chr9:71804549-71804550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs57985835	chr9:71804550-71804551	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs71354323	chr9:71804558-71804559	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs397789557	chr9:71804564-71804565	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs35791273	chr9:71804571-71804572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs527298702	chr9:71804572-71804573	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547745696	chr9:71804579-71804580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs34446622	chr9:71804580-71804581	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs397953208	chr9:71804592-71804593	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142682669	chr9:71804596-71804597	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192247254	chr9:71804639-71804640	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145096181	chr9:71804725-71804726	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs556410466	chr9:71804760-71804761	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531467094	chr9:71804773-71804774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs576331097	chr9:71804882-71804883	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201158071	chr9:71804887-71804888	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549648900	chr9:71804897-71804898	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs571445800	chr9:71804898-71804899	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538450597	chr9:71804944-71804945	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7875284	chr9:71804992-71804993	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551891920	chr9:71805003-71805004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566812966	chr9:71805004-71805005	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144427753	chr9:71805010-71805011	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs147777421	chr9:71805029-71805030	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs184080787	chr9:71805085-71805086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147833236	chr9:71805115-71805116	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2993820	chr9:71805150-71805151	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs78706322	chr9:71805171-71805172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs578158415	chr9:71805175-71805176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs545229217	chr9:71805180-71805181	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71790400-71832200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:71790400-71835600	Weak transcription	Colonic Mucosa	Colon
3	chr9:71791200-71807600	Weak transcription	Psoas Muscle	Psoas
4	chr9:71792400-71808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:71793600-71805600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:71794000-71806000	Weak transcription	Primary T cells from cord blood	blood
7	chr9:71795600-71814400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:71795800-71806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr9:71796000-71805600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:71797000-71805800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr9:71797000-71814600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:71797200-71805800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:71797200-71832000	Weak transcription	Esophagus	oesophagus
14	chr9:71798400-71807400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:71799200-71804600	Enhancers	Placenta	Placenta
16	chr9:71799600-71808400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:71800600-71806600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:71801000-71804600	Enhancers	Stomach Mucosa	stomach
19	chr9:71801000-71811800	Enhancers	Liver	Liver
20	chr9:71801400-71805200	Enhancers	GM12878-XiMat	blood
21	chr9:71801600-71809600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:71801800-71804600	Enhancers	Brain Substantia Nigra	brain
23	chr9:71802200-71808000	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:71802400-71808000	Weak transcription	Hela-S3	cervix
25	chr9:71802600-71805000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:71802600-71805600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr9:71802600-71805600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:71802600-71810200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:71802800-71805000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:71802800-71805600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:71802800-71805600	Weak transcription	Fetal Kidney	kidney
32	chr9:71802800-71805600	Weak transcription	Small Intestine	intestine
33	chr9:71802800-71806000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:71802800-71807200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr9:71802800-71807400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr9:71802800-71810600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:71803000-71805000	Weak transcription	Adipose Nuclei	Adipose
38	chr9:71803000-71805000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:71803000-71805200	Weak transcription	NHLF	lung
40	chr9:71803000-71805600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr9:71803000-71807600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:71803000-71807800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:71803000-71810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:71803200-71804600	Enhancers	Brain Hippocampus Middle	brain
45	chr9:71803200-71805000	Weak transcription	Fetal Intestine Small	intestine
46	chr9:71803200-71805000	Weak transcription	HMEC	breast
47	chr9:71803200-71805200	Weak transcription	Fetal Lung	lung
48	chr9:71803200-71805600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:71803200-71807600	Weak transcription	Fetal Stomach	stomach
50	chr9:71803200-71807600	Weak transcription	Ovary	ovary

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