Variant report

Variant	esv3515134
Chromosome Location	chr9:71738000-71743464
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:0)
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	chr1:149223425..149225310-chr9:71736139..71738412,2	MCF-7	breast:
2	chr11:65666788..65667405-chr9:71737195..71738062,2	Hela-S3	cervix:
3	chr9:71736348..71739276-chr9:71751743..71753516,2	MCF-7	breast:
4	chr9:71720044..71724145-chr9:71733178..71738087,7	MCF-7	breast:
5	chr9:71734142..71739001-chr9:71788032..71795507,11	MCF-7	breast:
6	chr9:71727081..71728601-chr9:71737166..71739059,2	MCF-7	breast:
7	chr9:71736310..71738206-chr9:71797242..71798901,2	MCF-7	breast:
8	chr9:71735373..71738833-chr9:71764136..71766985,4	MCF-7	breast:
9	chr9:71733168..71738729-chr9:71786929..71793777,10	MCF-7	breast:
10	chr9:71733940..71739343-chr9:71741877..71748941,25	MCF-7	breast:
11	chr9:71696609..71699452-chr9:71736834..71738699,2	MCF-7	breast:
12	chr9:71734182..71738595-chr9:71741906..71745315,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270236	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000119139	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143624780	chr9:71738000-71738001	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs530883036	chr9:71738065-71738066	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs147640588	chr9:71738086-71738087	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs570349009	chr9:71738121-71738122	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs111340106	chr9:71738123-71738124	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200263229	chr9:71738127-71738128	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192906478	chr9:71738247-71738248	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553871854	chr9:71738291-71738292	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs565790729	chr9:71738317-71738318	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541417623	chr9:71738322-71738323	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536337576	chr9:71738334-71738335	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs554993156	chr9:71738364-71738365	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576335992	chr9:71738543-71738544	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79964246	chr9:71738558-71738559	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145927395	chr9:71738562-71738563	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12353072	chr9:71738712-71738713	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138407063	chr9:71738722-71738723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530587210	chr9:71738772-71738773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184774822	chr9:71738814-71738815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113167616	chr9:71738885-71738886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143899874	chr9:71738960-71738961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541560748	chr9:71739015-71739016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563326808	chr9:71739031-71739032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370967715	chr9:71739032-71739033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569457870	chr9:71739047-71739048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188611942	chr9:71739088-71739089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191828374	chr9:71739092-71739093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201897054	chr9:71739115-71739116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546429189	chr9:71739169-71739170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568158241	chr9:71739244-71739245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12686057	chr9:71739249-71739250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548377819	chr9:71739300-71739301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183560789	chr9:71739316-71739317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150195143	chr9:71739337-71739338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200743736	chr9:71739441-71739442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147882305	chr9:71739513-71739514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188347977	chr9:71739617-71739618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12238810	chr9:71739732-71739733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138743870	chr9:71739736-71739737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182372741	chr9:71739840-71739841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574916661	chr9:71739857-71739858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187228454	chr9:71739890-71739891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190063780	chr9:71739900-71739901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149349005	chr9:71739926-71739927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181770432	chr9:71739932-71739933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564049567	chr9:71739953-71739954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144853614	chr9:71739979-71739980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546466053	chr9:71740025-71740026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561952755	chr9:71740064-71740065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529042058	chr9:71740084-71740085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71729800-71745600	Weak transcription	K562	blood
2	chr9:71735000-71738200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr9:71735000-71738200	Active TSS	Fetal Intestine Large	intestine
4	chr9:71735200-71738000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr9:71735200-71738000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:71735200-71738200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr9:71735200-71738200	Active TSS	Fetal Intestine Small	intestine
8	chr9:71735200-71738400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr9:71735400-71738000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr9:71735600-71738000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr9:71735800-71738000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr9:71735800-71738200	Active TSS	Aorta	Aorta
13	chr9:71736000-71738000	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr9:71736000-71738000	Active TSS	Gastric	stomach
15	chr9:71736000-71738000	Active TSS	Lung	lung
16	chr9:71736200-71738200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:71736200-71738200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:71736600-71738000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr9:71736600-71738000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr9:71736600-71738000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr9:71736800-71738000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
22	chr9:71736800-71738000	Bivalent/Poised TSS	HepG2	liver
23	chr9:71737200-71738000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:71737200-71738200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:71737400-71738000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:71737400-71738000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:71737400-71738000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr9:71737400-71738000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:71737400-71738000	Flanking Active TSS	Liver	Liver
30	chr9:71737400-71738000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr9:71737400-71738000	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr9:71737400-71738000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr9:71737400-71738000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr9:71737400-71738000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr9:71737400-71738000	Enhancers	Spleen	Spleen
36	chr9:71737400-71738000	Flanking Active TSS	A549	lung
37	chr9:71737400-71738000	Flanking Active TSS	NHLF	lung
38	chr9:71737400-71738200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:71737400-71738200	Flanking Active TSS	Fetal Heart	heart
40	chr9:71737400-71738200	Flanking Active TSS	Dnd41	blood
41	chr9:71737400-71738200	Flanking Active TSS	HMEC	breast
42	chr9:71737600-71738000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:71737600-71738000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr9:71737600-71738000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:71737600-71738000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:71737600-71738000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:71737600-71738000	Enhancers	Primary B cells from peripheral blood	blood
48	chr9:71737600-71738000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr9:71737600-71738000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr9:71737600-71738000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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