Variant report

Variant	nsv1051764
Chromosome Location	chr9:71689756-71716055
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000119139	chromatin interactions

Extended variants
information (count: 1079 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1079 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4745580	chr9:71689756-71689757	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371114988	chr9:71689763-71689764	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553338069	chr9:71689767-71689768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572039496	chr9:71689835-71689836	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192217050	chr9:71689837-71689838	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35464439	chr9:71689842-71689843	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4745581	chr9:71689880-71689881	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs557885334	chr9:71689963-71689964	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534914330	chr9:71689972-71689973	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146574092	chr9:71689982-71689983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs386734759	chr9:71690144-71690145	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150186989	chr9:71690145-71690146	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
13	rs7875272	chr9:71690150-71690151	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545445918	chr9:71690157-71690158	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4745583	chr9:71690182-71690183	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs147094532	chr9:71690203-71690204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184401443	chr9:71690228-71690229	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115528408	chr9:71690243-71690244	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7865854	chr9:71690246-71690247	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs550096130	chr9:71690257-71690258	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571046012	chr9:71690274-71690275	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565054764	chr9:71690306-71690307	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538326728	chr9:71690357-71690358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7866067	chr9:71690370-71690371	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs112623808	chr9:71690375-71690376	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557402105	chr9:71690376-71690377	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs386414981	chr9:71690383-71690384	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs56827613	chr9:71690398-71690399	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs13297608	chr9:71690411-71690412	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369586554	chr9:71690425-71690426	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7875693	chr9:71690452-71690453	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs7849347	chr9:71690482-71690483	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7874989	chr9:71690501-71690502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs77364069	chr9:71690564-71690565	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143536099	chr9:71690575-71690576	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6560541	chr9:71690684-71690685	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569838741	chr9:71690713-71690714	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150169295	chr9:71690716-71690717	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545482993	chr9:71690738-71690739	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370051686	chr9:71690745-71690746	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572355668	chr9:71690774-71690775	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539089856	chr9:71690810-71690811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542650633	chr9:71690830-71690831	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188391059	chr9:71690872-71690873	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143564618	chr9:71690934-71690935	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531893442	chr9:71690961-71690962	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7875564	chr9:71690963-71690964	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs7875659	chr9:71690974-71690975	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs192507473	chr9:71691015-71691016	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7858249	chr9:71691030-71691031	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71659600-71689800	Weak transcription	Colonic Mucosa	Colon
2	chr9:71664200-71691200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:71664400-71693600	Weak transcription	HMEC	breast
4	chr9:71670000-71693800	Weak transcription	Stomach Mucosa	stomach
5	chr9:71673200-71694800	Weak transcription	HSMM	muscle
6	chr9:71675000-71697400	Weak transcription	HUVEC	blood vessel
7	chr9:71675800-71691600	Weak transcription	Fetal Lung	lung
8	chr9:71676000-71693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:71676400-71693600	Weak transcription	Brain Substantia Nigra	brain
10	chr9:71677400-71700000	Weak transcription	NHDF-Ad	bronchial
11	chr9:71678200-71690600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr9:71679200-71693000	Weak transcription	Aorta	Aorta
13	chr9:71680200-71700800	Weak transcription	Fetal Kidney	kidney
14	chr9:71680800-71693000	Weak transcription	Osteobl	bone
15	chr9:71681200-71690200	Weak transcription	NH-A	brain
16	chr9:71681200-71693400	Weak transcription	Brain Anterior Caudate	brain
17	chr9:71681200-71700800	Weak transcription	K562	blood
18	chr9:71681400-71693400	Weak transcription	Brain Angular Gyrus	brain
19	chr9:71681600-71690000	Weak transcription	HSMMtube	muscle
20	chr9:71681600-71690200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr9:71681600-71692800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:71681600-71692800	Weak transcription	Hela-S3	cervix
23	chr9:71682200-71700800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:71682600-71690200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:71683200-71693200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:71683600-71691200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:71683600-71693600	Weak transcription	Psoas Muscle	Psoas
28	chr9:71683600-71704200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:71683800-71690200	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:71683800-71693000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:71683800-71693400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:71683800-71693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:71683800-71701000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:71684000-71693600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr9:71684000-71695000	Weak transcription	Fetal Intestine Large	intestine
36	chr9:71684200-71693600	Weak transcription	Esophagus	oesophagus
37	chr9:71684400-71702200	Weak transcription	Primary B cells from cord blood	blood
38	chr9:71684800-71692800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr9:71684800-71693000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:71684800-71693200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:71684800-71699200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr9:71684800-71705800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:71685000-71691400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr9:71685000-71693600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:71685400-71689800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:71685400-71693400	Weak transcription	Lung	lung
47	chr9:71685600-71690800	Weak transcription	Fetal Intestine Small	intestine
48	chr9:71686200-71693200	Weak transcription	Right Ventricle	heart
49	chr9:71686200-71694200	Weak transcription	Gastric	stomach
50	chr9:71686400-71690000	Weak transcription	Spleen	Spleen

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