Variant report

Variant	esv3481732
Chromosome Location	chr9:117847681-117850479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:117841964..117843849-chr9:117846217..117848854,2	MCF-7	breast:
2	chr9:117843493..117846362-chr9:117847187..117851097,3	K562	blood:
3	chr9:117839179..117841856-chr9:117845552..117848001,2	MCF-7	breast:

Extended variants
information (count: 184 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147071627	chr9:117847708-117847709	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549023059	chr9:117847813-117847814	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1755642	chr9:117847869-117847870	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574653534	chr9:117847952-117847953	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192380872	chr9:117847955-117847956	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547798177	chr9:117847957-117847958	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570997803	chr9:117847966-117847967	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138273809	chr9:117847967-117847968	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556646759	chr9:117848029-117848030	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570163223	chr9:117848069-117848070	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536010517	chr9:117848092-117848093	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555805008	chr9:117848107-117848108	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372913237	chr9:117848110-117848111	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1617917	chr9:117848112-117848113	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540657962	chr9:117848114-117848115	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143856187	chr9:117848129-117848130	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577173441	chr9:117848144-117848145	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201025112	chr9:117848146-117848147	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146288119	chr9:117848161-117848162	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563361695	chr9:117848162-117848163	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147209573	chr9:117848174-117848175	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373591852	chr9:117848177-117848178	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367848315	chr9:117848183-117848184	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542787018	chr9:117848186-117848187	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138819573	chr9:117848188-117848189	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559423461	chr9:117848192-117848193	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3827816	chr9:117848197-117848198	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs3827815	chr9:117848201-117848202	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201528891	chr9:117848261-117848262	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141939656	chr9:117848266-117848267	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs145186809	chr9:117848272-117848273	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371055558	chr9:117848284-117848285	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs138989320	chr9:117848290-117848291	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs141544394	chr9:117848291-117848292	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs146173400	chr9:117848295-117848296	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs549736488	chr9:117848300-117848301	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs61729478	chr9:117848368-117848369	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149491853	chr9:117848369-117848370	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs143944074	chr9:117848375-117848376	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148675378	chr9:117848376-117848377	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs144406273	chr9:117848392-117848393	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs1757095	chr9:117848394-117848395	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201758398	chr9:117848395-117848396	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372037200	chr9:117848440-117848441	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534990610	chr9:117848450-117848451	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs189249722	chr9:117848470-117848471	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs112399292	chr9:117848471-117848472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144640673	chr9:117848474-117848475	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs548807420	chr9:117848477-117848478	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs151255144	chr9:117848483-117848484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Oral squamous cell carcinoma	17134496	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
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
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
2	chr9:117802200-117848200	Weak transcription	Spleen	Spleen
3	chr9:117815400-117859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:117817800-117850600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:117819800-117848000	Weak transcription	Fetal Intestine Small	intestine
6	chr9:117822400-117854400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:117825400-117848000	Weak transcription	Lung	lung
8	chr9:117826800-117849400	Strong transcription	Osteobl	bone
9	chr9:117827000-117848600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:117827000-117849200	Strong transcription	NHDF-Ad	bronchial
11	chr9:117827200-117855200	Strong transcription	NH-A	brain
12	chr9:117827400-117849200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:117831800-117848000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr9:117834000-117849400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:117834000-117849800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:117834800-117848600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr9:117836000-117848600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:117837000-117849400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:117839000-117848800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:117839000-117849200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:117839600-117849200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:117840600-117848000	Weak transcription	Fetal Intestine Large	intestine
23	chr9:117840800-117848600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:117841200-117860600	Weak transcription	Fetal Kidney	kidney
25	chr9:117841400-117849200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:117842600-117850400	Weak transcription	Fetal Brain Female	brain
27	chr9:117842800-117849400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:117842800-117855200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:117843600-117849000	Strong transcription	Fetal Muscle Leg	muscle
30	chr9:117843600-117849400	Strong transcription	NHLF	lung
31	chr9:117845200-117848200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:117845600-117848600	Weak transcription	Fetal Lung	lung
33	chr9:117845600-117849000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:117845600-117850000	Weak transcription	Gastric	stomach
35	chr9:117845800-117847800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr9:117845800-117849600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:117845800-117850400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr9:117846200-117849600	Strong transcription	Fetal Stomach	stomach
39	chr9:117846200-117849800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:117846200-117849800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:117846400-117848000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:117846400-117848800	Strong transcription	Aorta	Aorta
43	chr9:117846600-117848000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:117846600-117849600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:117846600-117849600	Genic enhancers	NHEK	skin
46	chr9:117846600-117851000	Weak transcription	Right Atrium	heart
47	chr9:117846800-117848400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr9:117846800-117849600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr9:117847000-117848600	Genic enhancers	Colon Smooth Muscle	Colon
50	chr9:117847000-117849000	Weak transcription	Fetal Muscle Trunk	muscle

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