Variant report

Variant	nsv893437
Chromosome Location	chr9:72118962-72223176
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:25)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71838226..71839166-chr9:72164211..72164843,2	MCF-7	breast:
2	chr9:72192844..72194505-chr9:72195601..72198020,2	K562	blood:
3	chr9:72207158..72209032-chr9:72218092..72220343,2	MCF-7	breast:
4	chr9:72192844..72194505-chr9:72195601..72198020,2	K562	blood:
5	chr9:72036895..72038079-chr9:72163773..72164881,7	MCF-7	breast:
6	chr9:72036812..72037787-chr9:72160880..72161856,6	MCF-7	breast:
7	chr9:72206293..72208868-chr9:72259741..72261828,2	MCF-7	breast:
8	chr9:72039845..72040903-chr9:72160889..72161458,4	MCF-7	breast:
9	chr9:72170921..72173288-chr9:72491881..72494788,2	MCF-7	breast:
10	chr9:72088172..72090177-chr9:72119590..72122551,2	MCF-7	breast:
11	chr9:72198561..72201116-chr9:72205878..72207439,2	MCF-7	breast:
12	chr9:72027335..72027966-chr9:72164135..72164934,2	MCF-7	breast:
13	chr1:150207954..150208537-chr9:72196079..72196874,2	MCF-7	breast:
14	chr9:72126490..72129215-chr9:72129544..72132569,4	MCF-7	breast:
15	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
16	chr9:72198561..72201116-chr9:72205878..72207439,2	MCF-7	breast:
17	chr9:72036664..72037777-chr9:72163377..72165001,9	K562	blood:
18	chr9:72126490..72129215-chr9:72129544..72132569,4	MCF-7	breast:
19	chr9:72207158..72209032-chr9:72218092..72220343,2	MCF-7	breast:
20	chr9:72038579..72040872-chr9:72161729..72164338,3	MCF-7	breast:
21	chr9:72098831..72100503-chr9:72120147..72122522,2	MCF-7	breast:
22	chr9:72195299..72197073-chr9:72236850..72239797,2	MCF-7	breast:
23	chr9:72027288..72028201-chr9:72161004..72161637,2	MCF-7	breast:
24	chr9:72085073..72087680-chr9:72148293..72150316,2	MCF-7	breast:
25	chr16:84747898..84748501-chr9:72135912..72136596,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM189A2-3	chr9:72124873-72127579	ucscGeneNc_uc004ahs_1
2	lnc-FAM189A2-4	chr9:72217920-72219395	predAs_engstrom06_BM705037_1

No data

Variant related genes	Relation type
ENSG00000143401	chromatin interactions
ENSG00000229312	chromatin interactions

Extended variants
information (count: 3562 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3562 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3897966	chr9:72118962-72118963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543338300	chr9:72118980-72118981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564509412	chr9:72118983-72118984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576777466	chr9:72119080-72119081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547724048	chr9:72119093-72119094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541078653	chr9:72119096-72119097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73447315	chr9:72119170-72119171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562017102	chr9:72119175-72119176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529843589	chr9:72119185-72119186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567627195	chr9:72119189-72119190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549590561	chr9:72119306-72119307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138773268	chr9:72119310-72119311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532023279	chr9:72119518-72119519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550517328	chr9:72119575-72119576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571637034	chr9:72119638-72119639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377447087	chr9:72119661-72119662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60952146	chr9:72119680-72119681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547825739	chr9:72119714-72119715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142726868	chr9:72119757-72119758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34655941	chr9:72119766-72119767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536498391	chr9:72119767-72119768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550787504	chr9:72119796-72119797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371721734	chr9:72119826-72119827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571059573	chr9:72119835-72119836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566438001	chr9:72119857-72119858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554318923	chr9:72119915-72119916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144446964	chr9:72119933-72119934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183220854	chr9:72119934-72119935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566841835	chr9:72119948-72119949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558437556	chr9:72120003-72120004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186517386	chr9:72120022-72120023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540667066	chr9:72120071-72120072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552973415	chr9:72120101-72120102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74433119	chr9:72120111-72120112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541974691	chr9:72120145-72120146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77140822	chr9:72120146-72120147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531958675	chr9:72120178-72120179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544090782	chr9:72120203-72120204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191029284	chr9:72120205-72120206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182600766	chr9:72120234-72120235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111786173	chr9:72120259-72120260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547468090	chr9:72120267-72120268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566090759	chr9:72120274-72120275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188908266	chr9:72120326-72120327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548289241	chr9:72120413-72120414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141798287	chr9:72120421-72120422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536850302	chr9:72120460-72120461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7862458	chr9:72120484-72120485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192584193	chr9:72120557-72120558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534952201	chr9:72120564-72120565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72107800-72130000	Weak transcription	Pancreas	Pancrea
2	chr9:72114200-72130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:72114800-72128200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr9:72116000-72119000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr9:72118000-72120200	Weak transcription	HMEC	breast
6	chr9:72118200-72119600	Enhancers	Liver	Liver
7	chr9:72118400-72119400	Enhancers	HUVEC	blood vessel
8	chr9:72118400-72119600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:72118400-72120000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:72118800-72130000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:72119000-72120000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr9:72119200-72132400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:72120000-72120200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:72120000-72120200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:72120000-72120600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:72120000-72120600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:72120000-72120600	Enhancers	NHEK	skin
18	chr9:72120200-72120600	Enhancers	HMEC	breast
19	chr9:72120200-72130600	Weak transcription	Spleen	Spleen
20	chr9:72120600-72133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:72120800-72121200	Active TSS	A549	lung
22	chr9:72125600-72131000	Weak transcription	Fetal Brain Male	brain
23	chr9:72126200-72130800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:72127400-72127800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:72127400-72129000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:72127400-72129200	Enhancers	Liver	Liver
27	chr9:72127400-72131400	Weak transcription	Adipose Nuclei	Adipose
28	chr9:72127800-72129000	Enhancers	Brain Hippocampus Middle	brain
29	chr9:72127800-72131200	Weak transcription	Right Ventricle	heart
30	chr9:72128000-72128600	Enhancers	Brain Anterior Caudate	brain
31	chr9:72128000-72128800	Enhancers	Fetal Kidney	kidney
32	chr9:72128000-72129000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr9:72128200-72128400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:72128200-72128400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:72128200-72128400	Enhancers	Left Ventricle	heart
36	chr9:72128200-72128600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:72128200-72128600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr9:72128200-72128600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:72128200-72128600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:72128200-72128600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:72128200-72128600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr9:72128200-72128800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:72128200-72128800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:72128200-72128800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr9:72128200-72128800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr9:72128200-72128800	Enhancers	Ovary	ovary
47	chr9:72128200-72129000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:72128200-72129200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr9:72128200-72130000	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:72128400-72128600	Enhancers	Brain Angular Gyrus	brain

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