Variant report

Variant	esv2761531
Chromosome Location	chr9:71684369-71718459
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71686014..71689293-chr9:71805643..71807349,3	K562	blood:
2	chr9:71704381..71705131-chr9:71714234..71715231,2	MCF-7	breast:
3	chr9:71699941..71701534-chr9:71703830..71705802,2	MCF-7	breast:
4	chr9:71697839..71699569-chr9:71700381..71702891,2	K562	blood:
5	chr9:71680760..71683108-chr9:71693749..71695954,2	K562	blood:
6	chr9:71704193..71706680-chr9:71707400..71709954,2	K562	blood:
7	chr9:71704008..71706268-chr9:71714594..71717470,2	MCF-7	breast:
8	chr9:71704381..71705131-chr9:71714234..71715231,2	MCF-7	breast:
9	chr9:71699452..71701501-chr9:71735733..71737488,2	MCF-7	breast:
10	chr9:71697839..71699569-chr9:71700381..71702891,2	K562	blood:
11	chr9:71696609..71699452-chr9:71736834..71738699,2	MCF-7	breast:
12	chr9:71688887..71691252-chr9:71735697..71737532,2	MCF-7	breast:
13	chr9:71700139..71702820-chr9:71819428..71821529,2	MCF-7	breast:
14	chr9:71718282..71721853-chr9:71734600..71737822,4	MCF-7	breast:
15	chr9:71704008..71706268-chr9:71714594..71717470,2	MCF-7	breast:
16	chr9:71704193..71706680-chr9:71707400..71709954,2	K562	blood:
17	chr9:71699941..71701534-chr9:71703830..71705802,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119139	chromatin interactions

Extended variants
information (count: 1418 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1418 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2498432	chr9:71684369-71684370	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559317356	chr9:71684387-71684388	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560613065	chr9:71684396-71684397	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34845391	chr9:71684428-71684429	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74703119	chr9:71684431-71684432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527775906	chr9:71684434-71684435	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543076270	chr9:71684483-71684484	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561310622	chr9:71684495-71684496	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535641990	chr9:71684511-71684512	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61152140	chr9:71684519-71684520	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2498431	chr9:71684591-71684592	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs575571595	chr9:71684602-71684603	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140599316	chr9:71684616-71684617	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547583750	chr9:71684641-71684642	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565479769	chr9:71684698-71684699	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191960522	chr9:71684699-71684700	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2498430	chr9:71684702-71684703	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs182946167	chr9:71684795-71684796	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111757112	chr9:71684830-71684831	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145649731	chr9:71684901-71684902	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187492649	chr9:71684905-71684906	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577058186	chr9:71684944-71684945	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138172391	chr9:71684961-71684962	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553187401	chr9:71684969-71684970	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572597060	chr9:71684973-71684974	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367857662	chr9:71684974-71684975	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149220567	chr9:71685012-71685013	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561144716	chr9:71685034-71685035	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143414211	chr9:71685100-71685101	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543763936	chr9:71685120-71685121	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563872382	chr9:71685145-71685146	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191604465	chr9:71685152-71685153	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532658302	chr9:71685158-71685159	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374578407	chr9:71685191-71685192	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559498611	chr9:71685315-71685316	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529761386	chr9:71685353-71685354	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547840411	chr9:71685391-71685392	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569552635	chr9:71685396-71685397	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537094875	chr9:71685399-71685400	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78630091	chr9:71685432-71685433	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570755950	chr9:71685445-71685446	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534891550	chr9:71685446-71685447	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553224180	chr9:71685458-71685459	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9411182	chr9:71685514-71685515	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs35972074	chr9:71685518-71685519	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35714685	chr9:71685520-71685521	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536756665	chr9:71685546-71685547	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185081924	chr9:71685581-71685582	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576458206	chr9:71685598-71685599	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540404335	chr9:71685620-71685621	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	22522925	CNVD

Chromatin state (count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71659600-71689800	Weak transcription	Colonic Mucosa	Colon
2	chr9:71659800-71685200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:71660000-71684400	Weak transcription	Small Intestine	intestine
4	chr9:71660000-71689400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:71661200-71684800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:71662800-71686400	Weak transcription	Fetal Brain Female	brain
7	chr9:71664200-71691200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:71664400-71693600	Weak transcription	HMEC	breast
9	chr9:71668600-71687400	Weak transcription	Thymus	Thymus
10	chr9:71669000-71688800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:71670000-71688400	Weak transcription	Fetal Brain Male	brain
12	chr9:71670000-71693800	Weak transcription	Stomach Mucosa	stomach
13	chr9:71671600-71686600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr9:71673200-71694800	Weak transcription	HSMM	muscle
15	chr9:71675000-71697400	Weak transcription	HUVEC	blood vessel
16	chr9:71675800-71691600	Weak transcription	Fetal Lung	lung
17	chr9:71676000-71693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:71676400-71693600	Weak transcription	Brain Substantia Nigra	brain
19	chr9:71677400-71700000	Weak transcription	NHDF-Ad	bronchial
20	chr9:71678000-71689000	Strong transcription	Primary T cells from cord blood	blood
21	chr9:71678200-71684800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:71678200-71690600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr9:71678400-71686600	Strong transcription	Fetal Stomach	stomach
24	chr9:71678800-71685600	Strong transcription	Fetal Intestine Small	intestine
25	chr9:71678800-71688800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:71679000-71684800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr9:71679000-71684800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr9:71679000-71685000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr9:71679000-71685000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr9:71679200-71684600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:71679200-71684800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:71679200-71685000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:71679200-71685400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:71679200-71688800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr9:71679200-71693000	Weak transcription	Aorta	Aorta
36	chr9:71679400-71684800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr9:71679400-71684800	Strong transcription	Fetal Muscle Leg	muscle
38	chr9:71679400-71684800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr9:71679400-71688600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr9:71679400-71688800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:71679400-71688800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:71679400-71688800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:71679400-71688800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr9:71679600-71685200	Strong transcription	Adipose Nuclei	Adipose
45	chr9:71679600-71688800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr9:71679800-71684800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:71679800-71684800	Strong transcription	Spleen	Spleen
48	chr9:71679800-71688400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr9:71680000-71684800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:71680000-71684800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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