Variant report

Variant	nsv1049943
Chromosome Location	chr9:71834295-71855369
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71842807..71845756-chr9:71852828..71854737,2	MCF-7	breast:
2	chr9:71826504..71828292-chr9:71833084..71835143,2	K562	blood:
3	chr9:71842807..71845756-chr9:71852828..71854737,2	MCF-7	breast:
4	chr9:71830235..71832170-chr9:71836510..71838640,2	K562	blood:
5	chr9:71850777..71853807-chr9:71854436..71856252,3	K562	blood:
6	chr9:71789625..71792443-chr9:71836331..71838562,2	K562	blood:
7	chr9:71830973..71832633-chr9:71834177..71836449,2	K562	blood:
8	chr9:71854349..71857071-chr9:71859863..71862039,2	MCF-7	breast:
9	chr9:71668686..71669450-chr9:71838137..71838734,2	MCF-7	breast:
10	chr9:71850777..71853807-chr9:71854436..71856252,3	K562	blood:
11	chr9:71838226..71839166-chr9:72164211..72164843,2	MCF-7	breast:
12	chr9:71830973..71833151-chr9:71834177..71836449,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBA1-6	chr9:71855143-71855736	NONHSAT131773

No data

Variant related genes	Relation type
ENSG00000119139	chromatin interactions

Extended variants
information (count: 993 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375382368	chr9:71834317-71834318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574058229	chr9:71834323-71834324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34872796	chr9:71834353-71834354	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs11145746	chr9:71834380-71834381	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs188205925	chr9:71834417-71834418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541934072	chr9:71834449-71834450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11145748	chr9:71834551-71834552	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs2486449	chr9:71834600-71834601	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs545788335	chr9:71834650-71834651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192785455	chr9:71834654-71834655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374791375	chr9:71834692-71834693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528348748	chr9:71834744-71834745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546424868	chr9:71834760-71834761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561536947	chr9:71834763-71834764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7874888	chr9:71834768-71834769	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs548619114	chr9:71834814-71834815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546696517	chr9:71834848-71834849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566468743	chr9:71834896-71834897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537421630	chr9:71834905-71834906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184463982	chr9:71834958-71834959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372352214	chr9:71834973-71834974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571187677	chr9:71834989-71834990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139675095	chr9:71834990-71834991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553641931	chr9:71834991-71834992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528965521	chr9:71835015-71835016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575081142	chr9:71835042-71835043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58401135	chr9:71835066-71835067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114339760	chr9:71835101-71835102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536073923	chr9:71835104-71835105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188165199	chr9:71835138-71835139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181747699	chr9:71835139-71835140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184757543	chr9:71835142-71835143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188824794	chr9:71835161-71835162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537759627	chr9:71835168-71835169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572842853	chr9:71835173-71835174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540135451	chr9:71835188-71835189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561550542	chr9:71835202-71835203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529016680	chr9:71835222-71835223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541977087	chr9:71835223-71835224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563777624	chr9:71835293-71835294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58620660	chr9:71835300-71835301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368077726	chr9:71835303-71835304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570847484	chr9:71835305-71835306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551229932	chr9:71835325-71835326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144059140	chr9:71835352-71835353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547267050	chr9:71835366-71835367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73649626	chr9:71835373-71835374	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536013663	chr9:71835385-71835386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6560630	chr9:71835400-71835401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568968320	chr9:71835402-71835403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:775 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71790400-71835600	Weak transcription	Colonic Mucosa	Colon
2	chr9:71807800-71842800	Weak transcription	Small Intestine	intestine
3	chr9:71819800-71842200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:71820200-71842200	Weak transcription	NH-A	brain
5	chr9:71820400-71840400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:71820400-71842200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:71820800-71835800	Weak transcription	Psoas Muscle	Psoas
8	chr9:71820800-71840200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:71821400-71840200	Weak transcription	Brain Anterior Caudate	brain
10	chr9:71822800-71836000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:71823000-71835800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:71826800-71835600	Weak transcription	Right Ventricle	heart
13	chr9:71827400-71835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:71828000-71840400	Strong transcription	Fetal Intestine Small	intestine
15	chr9:71828000-71866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:71828400-71843000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:71828600-71856600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr9:71828600-71857600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:71828600-71865600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:71828800-71844200	Weak transcription	HSMMtube	muscle
21	chr9:71828800-71851000	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:71828800-71874200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:71830000-71837800	Strong transcription	Adipose Nuclei	Adipose
24	chr9:71830000-71838200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:71830000-71838600	Strong transcription	Fetal Intestine Large	intestine
26	chr9:71830200-71835600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:71830200-71837400	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr9:71830200-71846600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:71830400-71838000	Strong transcription	Fetal Stomach	stomach
30	chr9:71830400-71842800	Weak transcription	Fetal Thymus	thymus
31	chr9:71830600-71846000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr9:71830800-71838200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr9:71830800-71840800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr9:71831000-71837600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:71831000-71837800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:71831000-71840200	Weak transcription	Fetal Kidney	kidney
37	chr9:71831000-71846600	Weak transcription	Stomach Mucosa	stomach
38	chr9:71831200-71834600	Strong transcription	NHEK	skin
39	chr9:71831200-71835400	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:71831200-71835800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:71831200-71836600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:71831200-71836600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:71831200-71851200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:71831400-71835800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr9:71831400-71836200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr9:71831400-71836600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr9:71831400-71840200	Weak transcription	Brain Substantia Nigra	brain
48	chr9:71831400-71842800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:71831400-71868000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr9:71831400-71872800	Strong transcription	Liver	Liver

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