Variant report

Variant	esv2484591
Chromosome Location	chr9:72929015-72930616
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	E2F4	chr9:72928916-72929070	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr9:72930363-72930663	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr9:72930355-72930687	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr9:72930357-72930648	MCF10A-Er-Src	breast:	n/a	n/a
5	FOSL2	chr9:72930267-72930793	SK-N-SH	brain:	n/a	n/a
6	RFX5	chr9:72929636-72929836	K562	blood:	n/a	n/a
7	STAT3	chr9:72930422-72930514	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72872238..72875119-chr9:72928144..72929858,2	MCF-7	breast:
2	chr9:72872453..72875557-chr9:72928481..72931289,3	K562	blood:

Variant related genes	Relation type
ENSG00000239180	TF binding region
ENSG00000198887	chromatin interactions
ENSG00000268364	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34346778	chr9:72929023-72929024	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs150976190	chr9:72929035-72929036	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs10868800	chr9:72929099-72929100	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574518279	chr9:72929121-72929122	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7020512	chr9:72929123-72929124	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563351611	chr9:72929156-72929157	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531824530	chr9:72929166-72929167	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs150324104	chr9:72929186-72929187	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150534035	chr9:72929194-72929195	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs139487552	chr9:72929226-72929227	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs149660939	chr9:72929280-72929281	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144424010	chr9:72929293-72929294	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565925296	chr9:72929372-72929373	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530259398	chr9:72929380-72929381	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139432672	chr9:72929383-72929384	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144124478	chr9:72929409-72929410	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536872468	chr9:72929410-72929411	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146488554	chr9:72929411-72929412	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570449508	chr9:72929469-72929470	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10868801	chr9:72929503-72929504	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552599314	chr9:72929536-72929537	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574355067	chr9:72929578-72929579	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192324890	chr9:72929586-72929587	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs184581149	chr9:72929592-72929593	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs199537395	chr9:72929613-72929614	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs35426554	chr9:72929636-72929637	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369039572	chr9:72929668-72929669	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs150292183	chr9:72929699-72929700	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs544056515	chr9:72929704-72929705	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs137909778	chr9:72929724-72929725	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs565461607	chr9:72929752-72929753	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs117931618	chr9:72929765-72929766	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs79786701	chr9:72929768-72929769	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs11142363	chr9:72929769-72929770	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186994321	chr9:72929817-72929818	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs548535103	chr9:72929822-72929823	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs563659218	chr9:72929827-72929828	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530897513	chr9:72929884-72929885	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140995901	chr9:72929909-72929910	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570311906	chr9:72929926-72929927	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs534465250	chr9:72929949-72929950	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546589740	chr9:72930016-72930017	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142894576	chr9:72930022-72930023	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535123914	chr9:72930174-72930175	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs562569574	chr9:72930212-72930213	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201813931	chr9:72930224-72930225	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56142152	chr9:72930228-72930229	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs199900247	chr9:72930229-72930230	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113921028	chr9:72930265-72930266	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377223007	chr9:72930291-72930292	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72875000-72949800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:72876400-72939400	Weak transcription	Spleen	Spleen
3	chr9:72876400-72942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:72876400-72955200	Weak transcription	Stomach Mucosa	stomach
5	chr9:72877000-72939800	Weak transcription	Gastric	stomach
6	chr9:72877000-72942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:72877600-72935800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:72878600-72937600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:72880000-72939400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:72891400-72948200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr9:72900600-72939400	Weak transcription	Small Intestine	intestine
12	chr9:72900600-72942600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:72903000-72930400	Weak transcription	Brain Angular Gyrus	brain
14	chr9:72907200-72942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:72908800-72942800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr9:72910800-72929400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:72911400-72930000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:72912000-72943000	Strong transcription	HSMM	muscle
19	chr9:72912200-72929200	Strong transcription	Osteobl	bone
20	chr9:72912400-72930600	Strong transcription	Fetal Intestine Large	intestine
21	chr9:72912600-72947800	Strong transcription	Placenta	Placenta
22	chr9:72913800-72957800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:72914000-72929400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:72915400-72935200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:72917000-72935200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:72917400-72933800	Weak transcription	Brain Substantia Nigra	brain
27	chr9:72917600-72933800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr9:72918200-72942800	Weak transcription	Aorta	Aorta
29	chr9:72919400-72941600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:72919600-72940000	Weak transcription	Pancreas	Pancrea
31	chr9:72919800-72933000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr9:72920000-72931600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:72920200-72939600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:72920400-72941000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:72920600-72930000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:72921000-72941400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr9:72921200-72929400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:72921200-72937800	Weak transcription	K562	blood
39	chr9:72921400-72929200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:72921600-72934400	Weak transcription	HMEC	breast
41	chr9:72921600-72935800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr9:72922000-72929200	Strong transcription	Fetal Stomach	stomach
43	chr9:72922000-72929400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:72922000-72938400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr9:72923000-72938600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr9:72923000-72939200	Weak transcription	Lung	lung
47	chr9:72923200-72933400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr9:72923200-72938000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr9:72923200-72939400	Weak transcription	Colonic Mucosa	Colon
50	chr9:72924000-72931000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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