Variant report

Variant	esv3420618
Chromosome Location	chr9:117038531-117042929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117032609..117035855-chr9:117036593..117039866,3	MCF-7	breast:

Extended variants
information (count: 202 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182401251	chr9:117038567-117038568	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572707910	chr9:117038586-117038587	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536376423	chr9:117038587-117038588	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62555434	chr9:117038607-117038608	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142467833	chr9:117038620-117038621	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147943448	chr9:117038634-117038635	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558750211	chr9:117038656-117038657	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141557762	chr9:117038673-117038674	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368642426	chr9:117038754-117038755	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372912911	chr9:117038755-117038756	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145346140	chr9:117038777-117038778	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61161329	chr9:117038816-117038817	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548208010	chr9:117038817-117038818	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58330214	chr9:117038821-117038822	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76915115	chr9:117038876-117038877	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371966212	chr9:117038879-117038880	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547179844	chr9:117038892-117038893	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535026531	chr9:117038897-117038898	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553204948	chr9:117038902-117038903	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570257310	chr9:117038969-117038970	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376886807	chr9:117038970-117038971	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374814487	chr9:117039009-117039010	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539148204	chr9:117039015-117039016	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549805700	chr9:117039030-117039031	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73548906	chr9:117039045-117039046	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535410924	chr9:117039100-117039101	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1766059	chr9:117039111-117039112	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs377310434	chr9:117039114-117039115	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150150008	chr9:117039149-117039150	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535286106	chr9:117039152-117039153	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114606719	chr9:117039165-117039166	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138598232	chr9:117039184-117039185	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543569882	chr9:117039199-117039200	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10817580	chr9:117039222-117039223	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs573978521	chr9:117039256-117039257	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186105668	chr9:117039292-117039293	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561688012	chr9:117039297-117039298	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148869418	chr9:117039301-117039302	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191875360	chr9:117039307-117039308	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563946618	chr9:117039315-117039316	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532925638	chr9:117039316-117039317	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549641079	chr9:117039334-117039335	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143604604	chr9:117039363-117039364	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183419580	chr9:117039428-117039429	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557560082	chr9:117039436-117039437	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563143973	chr9:117039460-117039461	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58794940	chr9:117039496-117039497	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138119695	chr9:117039508-117039509	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187458146	chr9:117039573-117039574	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571893561	chr9:117039575-117039576	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	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
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD
Retinoblastoma	19183342	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116973400-117047000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:116978600-117041200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:117001600-117039400	Weak transcription	HUVEC	blood vessel
4	chr9:117002000-117041000	Weak transcription	Aorta	Aorta
5	chr9:117005000-117050200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:117012400-117054400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr9:117013400-117039400	Weak transcription	Ovary	ovary
8	chr9:117013400-117067800	Weak transcription	Right Ventricle	heart
9	chr9:117016200-117047400	Weak transcription	Fetal Kidney	kidney
10	chr9:117016800-117039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:117022400-117038600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:117024800-117043000	Weak transcription	Right Atrium	heart
13	chr9:117026000-117041800	Strong transcription	Liver	Liver
14	chr9:117026600-117057000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:117026800-117041400	Strong transcription	Fetal Stomach	stomach
16	chr9:117026800-117043400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:117026800-117050000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr9:117027600-117047600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:117027800-117056800	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:117028200-117077000	Weak transcription	Gastric	stomach
21	chr9:117029800-117038800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:117029800-117039000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:117030000-117038800	Weak transcription	Osteobl	bone
24	chr9:117032200-117043000	Strong transcription	Fetal Intestine Small	intestine
25	chr9:117033400-117046000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:117033800-117047000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:117036000-117043400	Strong transcription	Fetal Intestine Large	intestine
28	chr9:117036200-117038800	Weak transcription	Esophagus	oesophagus
29	chr9:117036200-117038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:117036200-117040000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:117037000-117039000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:117037200-117038800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:117037400-117038600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:117037400-117039400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:117037400-117042000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:117037600-117039000	Enhancers	HSMM	muscle
37	chr9:117037600-117039000	Enhancers	NH-A	brain
38	chr9:117037600-117039400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:117037600-117040200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:117037600-117040200	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr9:117037600-117040800	Genic enhancers	A549	lung
42	chr9:117037600-117040800	Enhancers	NHEK	skin
43	chr9:117037600-117041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:117037600-117041800	Enhancers	NHLF	lung
45	chr9:117037800-117038600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:117037800-117038600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:117037800-117039400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:117037800-117039400	Enhancers	HSMMtube	muscle
49	chr9:117037800-117040000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:117037800-117041600	Strong transcription	Fetal Lung	lung

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