Variant report

Variant	esv3418381
Chromosome Location	chr9:140537726-140538152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:140538077-140538428	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:140531263..140532803-chr9:140537043..140539990,2	MCF-7	breast:
2	chr9:140476962..140479956-chr9:140536689..140538723,2	MCF-7	breast:
3	chr9:140473450..140475457-chr9:140537565..140540083,2	K562	blood:
4	chr9:140537839..140540402-chr9:140542640..140545586,2	MCF-7	breast:

Variant related genes	Relation type
SETP5	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536834479	chr9:140537738-140537739	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558867517	chr9:140537768-140537769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71493685	chr9:140537789-140537790	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34163101	chr9:140537790-140537791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557078779	chr9:140537794-140537795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567410823	chr9:140537811-140537812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181736264	chr9:140537815-140537816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553283941	chr9:140537816-140537817	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186447189	chr9:140537825-140537826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545646941	chr9:140537853-140537854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543851744	chr9:140537861-140537862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189698195	chr9:140537875-140537876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10780178	chr9:140537955-140537956	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs148549571	chr9:140537957-140537958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563416527	chr9:140537958-140537959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10867038	chr9:140537990-140537991	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs180868879	chr9:140537995-140537996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559274418	chr9:140538002-140538003	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528393270	chr9:140538012-140538013	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540293612	chr9:140538047-140538048	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184882745	chr9:140538089-140538090	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs147264878	chr9:140538091-140538092	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs140797708	chr9:140538095-140538096	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs567656698	chr9:140538096-140538097	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs373399511	chr9:140538097-140538098	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs546689904	chr9:140538099-140538100	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373461683	chr9:140538127-140538128	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs189686913	chr9:140538143-140538144	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	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
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140515600-140539800	Weak transcription	HMEC	breast
2	chr9:140516200-140558800	Weak transcription	NH-A	brain
3	chr9:140520000-140540400	Weak transcription	Brain Germinal Matrix	brain
4	chr9:140520000-140549800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr9:140523200-140538200	Weak transcription	HSMMtube	muscle
6	chr9:140523400-140563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:140525400-140538200	Weak transcription	A549	lung
8	chr9:140526600-140557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:140526800-140539800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:140526800-140541200	Weak transcription	Fetal Brain Female	brain
11	chr9:140527400-140540800	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:140527400-140543000	Weak transcription	K562	blood
13	chr9:140527400-140557600	Weak transcription	Fetal Kidney	kidney
14	chr9:140527600-140538200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:140527600-140538200	Weak transcription	Gastric	stomach
16	chr9:140527600-140538400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:140527600-140539600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:140527600-140539800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:140527600-140539800	Weak transcription	Brain Angular Gyrus	brain
20	chr9:140527600-140539800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:140527600-140539800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:140527600-140539800	Weak transcription	Brain Substantia Nigra	brain
23	chr9:140527600-140541200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:140527600-140544800	Weak transcription	HSMM	muscle
25	chr9:140527600-140547600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:140527600-140549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:140527600-140551400	Weak transcription	Pancreas	Pancrea
28	chr9:140527600-140563800	Weak transcription	Aorta	Aorta
29	chr9:140527800-140559200	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:140528000-140542800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:140528000-140560600	Weak transcription	HUVEC	blood vessel
32	chr9:140528200-140538200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr9:140528200-140550000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:140528400-140545400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr9:140531000-140564800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr9:140533400-140538200	Weak transcription	Fetal Lung	lung
37	chr9:140533400-140538200	Weak transcription	Left Ventricle	heart
38	chr9:140533400-140538200	Weak transcription	NHEK	skin
39	chr9:140533400-140559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:140534000-140538000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr9:140534000-140544000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:140534200-140541200	Weak transcription	Primary B cells from cord blood	blood
43	chr9:140534200-140541200	Weak transcription	Osteobl	bone
44	chr9:140534200-140559800	Weak transcription	NHLF	lung
45	chr9:140534400-140542400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:140534400-140543000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:140534400-140544000	Weak transcription	Stomach Mucosa	stomach
48	chr9:140534400-140545400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:140534400-140555000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr9:140534400-140559200	Weak transcription	Colon Smooth Muscle	Colon

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