Variant report

Variant	nsv615645
Chromosome Location	chr9:136532183-136534186
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:136533324-136534403	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136528592..136530737-chr9:136533318..136534835,2	K562	blood:
2	chr9:136533491..136538951-chr9:136540367..136544630,5	MCF-7	breast:
3	chr9:136528562..136531390-chr9:136533335..136537164,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM163B-2	chr9:136531857-136532245	NONHSAT135335

No data

Variant related genes	Relation type
SARDH	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2073835	chr9:136532183-136532184	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148418882	chr9:136532189-136532190	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs56205329	chr9:136532190-136532191	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs183423716	chr9:136532192-136532193	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs73662176	chr9:136532217-136532218	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189192699	chr9:136532254-136532255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574354626	chr9:136532261-136532262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190947308	chr9:136532287-136532288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201062562	chr9:136532314-136532315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10993955	chr9:136532317-136532318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375736475	chr9:136532322-136532323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146017771	chr9:136532336-136532337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59643474	chr9:136532337-136532338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560806316	chr9:136532392-136532393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183279405	chr9:136532409-136532410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10993956	chr9:136532412-136532413	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150660500	chr9:136532413-136532414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531730524	chr9:136532431-136532432	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9409877	chr9:136532433-136532434	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561966626	chr9:136532445-136532446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2797822	chr9:136532467-136532468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2519127	chr9:136532476-136532477	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372579654	chr9:136532492-136532493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548203602	chr9:136532507-136532508	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7033395	chr9:136532545-136532546	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140557567	chr9:136532563-136532564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552442660	chr9:136532579-136532580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556152162	chr9:136532594-136532595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186850366	chr9:136532601-136532602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80350133	chr9:136532609-136532610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191254784	chr9:136532636-136532637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144176701	chr9:136532663-136532664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73662177	chr9:136532677-136532678	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12004083	chr9:136532749-136532750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572450134	chr9:136532803-136532804	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs76326337	chr9:136532804-136532805	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs113418710	chr9:136532850-136532851	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs184181749	chr9:136532852-136532853	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs129931	chr9:136532885-136532886	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149155000	chr9:136532909-136532910	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs372711551	chr9:136532923-136532924	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs372894173	chr9:136532937-136532938	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs529280307	chr9:136532983-136532984	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs73662178	chr9:136532984-136532985	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559774701	chr9:136533002-136533003	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs527619377	chr9:136533064-136533065	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs7034045	chr9:136533066-136533067	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570684040	chr9:136533071-136533072	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs187956428	chr9:136533096-136533097	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs201405044	chr9:136533097-136533098	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136524400-136541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr9:136524800-136535600	Weak transcription	HepG2	liver
3	chr9:136524800-136537000	Weak transcription	Fetal Lung	lung
4	chr9:136524800-136542800	Weak transcription	Right Atrium	heart
5	chr9:136524800-136555600	Weak transcription	HSMM	muscle
6	chr9:136525000-136556800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:136525200-136534000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr9:136525200-136534600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:136525400-136534600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:136525800-136536200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr9:136526000-136534400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr9:136526000-136534800	Weak transcription	Fetal Intestine Small	intestine
13	chr9:136528400-136540800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr9:136528600-136544200	Weak transcription	Ovary	ovary
15	chr9:136529000-136533600	Strong transcription	Liver	Liver
16	chr9:136529200-136533400	Enhancers	Fetal Muscle Leg	muscle
17	chr9:136529400-136532200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr9:136529400-136534600	Weak transcription	Pancreas	Pancrea
19	chr9:136530200-136533600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:136530600-136534600	Weak transcription	Fetal Thymus	thymus
21	chr9:136530800-136532200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:136530800-136534600	Weak transcription	Primary T cells from cord blood	blood
23	chr9:136530800-136561000	Weak transcription	Gastric	stomach
24	chr9:136531200-136532200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:136531600-136532200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr9:136531800-136532200	Bivalent Enhancer	Placenta	Placenta
27	chr9:136531800-136532200	Enhancers	Spleen	Spleen
28	chr9:136531800-136533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:136532000-136532200	Enhancers	Brain Germinal Matrix	brain
30	chr9:136532000-136532200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr9:136532000-136532200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
32	chr9:136532000-136533000	Weak transcription	Right Ventricle	heart
33	chr9:136532000-136534600	Weak transcription	Fetal Stomach	stomach
34	chr9:136532000-136543600	Weak transcription	Lung	lung
35	chr9:136532200-136532800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:136532200-136533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:136532200-136534600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:136532200-136534600	Weak transcription	Spleen	Spleen
39	chr9:136532400-136534600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr9:136532800-136533000	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr9:136532800-136533000	Enhancers	Left Ventricle	heart
42	chr9:136532800-136533200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:136532800-136533200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr9:136532800-136533400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr9:136533000-136533200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:136533000-136533200	Enhancers	Right Ventricle	heart
47	chr9:136533000-136533200	Enhancers	Thymus	Thymus
48	chr9:136533000-136533400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:136533200-136534400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:136533200-136538200	Weak transcription	Right Ventricle	heart

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