Variant report

Variant	nsv614552
Chromosome Location	chr9:71737684-71742802
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71720044..71724145-chr9:71733178..71738087,7	MCF-7	breast:
2	chr9:71733940..71739343-chr9:71741877..71748941,25	MCF-7	breast:
3	chr9:71736310..71738206-chr9:71797242..71798901,2	MCF-7	breast:
4	chr9:71734182..71738595-chr9:71741906..71745315,7	MCF-7	breast:
5	chr9:71649472..71654369-chr9:71735388..71737779,6	MCF-7	breast:
6	chr9:71736348..71739276-chr9:71751743..71753516,2	MCF-7	breast:
7	chr9:71734142..71739001-chr9:71788032..71795507,11	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	chr9:71696609..71699452-chr9:71736834..71738699,2	MCF-7	breast:
11	chr9:71727081..71728601-chr9:71737166..71739059,2	MCF-7	breast:
12	chr1:149223425..149225310-chr9:71736139..71738412,2	MCF-7	breast:
13	chr11:65666788..65667405-chr9:71737195..71738062,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000119139	chromatin interactions
ENSG00000165060	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000270236	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4278214	chr9:71737684-71737685	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538776930	chr9:71737685-71737686	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs149672010	chr9:71737705-71737706	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs74749405	chr9:71737743-71737744	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs542979598	chr9:71737752-71737753	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs74646159	chr9:71737764-71737765	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs554971748	chr9:71737792-71737793	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs576713586	chr9:71737828-71737829	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs114863213	chr9:71737851-71737852	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs540970203	chr9:71737863-71737864	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs565505871	chr9:71737867-71737868	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs148905726	chr9:71737878-71737879	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs115712160	chr9:71737880-71737881	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs532246336	chr9:71737902-71737903	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs369452767	chr9:71737906-71737907	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs559460438	chr9:71737913-71737914	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs114241970	chr9:71737922-71737923	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs548131568	chr9:71737985-71737986	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	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
20	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
21	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
22	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
23	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
24	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
25	rs192906478	chr9:71738247-71738248	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553871854	chr9:71738291-71738292	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565790729	chr9:71738317-71738318	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541417623	chr9:71738322-71738323	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs536337576	chr9:71738334-71738335	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554993156	chr9:71738364-71738365	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs576335992	chr9:71738543-71738544	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79964246	chr9:71738558-71738559	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145927395	chr9:71738562-71738563	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12353072	chr9:71738712-71738713	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138407063	chr9:71738722-71738723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530587210	chr9:71738772-71738773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184774822	chr9:71738814-71738815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113167616	chr9:71738885-71738886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143899874	chr9:71738960-71738961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541560748	chr9:71739015-71739016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563326808	chr9:71739031-71739032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370967715	chr9:71739032-71739033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569457870	chr9:71739047-71739048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188611942	chr9:71739088-71739089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191828374	chr9:71739092-71739093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201897054	chr9:71739115-71739116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546429189	chr9:71739169-71739170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568158241	chr9:71739244-71739245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12686057	chr9:71739249-71739250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548377819	chr9:71739300-71739301	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:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71729800-71745600	Weak transcription	K562	blood
2	chr9:71734800-71737800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:71734800-71737800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr9:71735000-71737800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr9:71735000-71737800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:71735000-71738200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr9:71735000-71738200	Active TSS	Fetal Intestine Large	intestine
8	chr9:71735200-71738000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr9:71735200-71738000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:71735200-71738200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr9:71735200-71738200	Active TSS	Fetal Intestine Small	intestine
12	chr9:71735200-71738400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr9:71735400-71737800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:71735400-71738000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr9:71735600-71737800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr9:71735600-71738000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr9:71735800-71737800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:71735800-71737800	Active TSS	Psoas Muscle	Psoas
19	chr9:71735800-71737800	Active TSS	Small Intestine	intestine
20	chr9:71735800-71738000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr9:71735800-71738200	Active TSS	Aorta	Aorta
22	chr9:71736000-71737800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:71736000-71737800	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr9:71736000-71738000	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr9:71736000-71738000	Active TSS	Gastric	stomach
26	chr9:71736000-71738000	Active TSS	Lung	lung
27	chr9:71736200-71738200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:71736200-71738200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:71736600-71737800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:71736600-71737800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr9:71736600-71738000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr9:71736600-71738000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr9:71736600-71738000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr9:71736800-71737800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr9:71736800-71737800	Active TSS	Right Atrium	heart
36	chr9:71736800-71737800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr9:71736800-71738000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr9:71736800-71738000	Bivalent/Poised TSS	HepG2	liver
39	chr9:71737000-71737800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:71737000-71737800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr9:71737000-71737800	Flanking Active TSS	Colonic Mucosa	Colon
42	chr9:71737000-71737800	Flanking Active TSS	Fetal Thymus	thymus
43	chr9:71737000-71737800	Flanking Active TSS	GM12878-XiMat	blood
44	chr9:71737200-71737800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr9:71737200-71737800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:71737200-71737800	Flanking Active TSS	Placenta	Placenta
47	chr9:71737200-71738000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:71737200-71738200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:71737400-71737800	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr9:71737400-71737800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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