Variant report

Variant	nsv6549
Chromosome Location	chr9:71701393-71708756
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71699452..71701501-chr9:71735733..71737488,2	MCF-7	breast:
2	chr9:71704193..71706680-chr9:71707400..71709954,2	K562	blood:
3	chr9:71700139..71702820-chr9:71819428..71821529,2	MCF-7	breast:
4	chr9:71704193..71706680-chr9:71707400..71709954,2	K562	blood:
5	chr9:71699941..71701534-chr9:71703830..71705802,2	MCF-7	breast:
6	chr9:71704381..71705131-chr9:71714234..71715231,2	MCF-7	breast:
7	chr9:71699941..71701534-chr9:71703830..71705802,2	MCF-7	breast:
8	chr9:71704008..71706268-chr9:71714594..71717470,2	MCF-7	breast:
9	chr9:71697839..71699569-chr9:71700381..71702891,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119139	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556078632	chr9:71701418-71701419	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558102233	chr9:71701457-71701458	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150966024	chr9:71701460-71701461	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77690545	chr9:71701491-71701492	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369291394	chr9:71701553-71701554	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553825049	chr9:71701589-71701590	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs56032032	chr9:71701595-71701596	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201897501	chr9:71701604-71701605	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs377632126	chr9:71701607-71701608	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555802027	chr9:71701654-71701655	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542802936	chr9:71701718-71701719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187213307	chr9:71701719-71701720	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544610058	chr9:71701823-71701824	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563048897	chr9:71701827-71701828	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563211322	chr9:71701874-71701875	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566471083	chr9:71701877-71701878	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190043772	chr9:71701878-71701879	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113020915	chr9:71701906-71701907	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373149287	chr9:71701917-71701918	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527381060	chr9:71702070-71702071	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144615367	chr9:71702071-71702072	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567011962	chr9:71702085-71702086	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10747003	chr9:71702098-71702099	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs370043348	chr9:71702100-71702101	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114061096	chr9:71702106-71702107	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181661669	chr9:71702208-71702209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538522022	chr9:71702257-71702258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553942694	chr9:71702278-71702279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564144260	chr9:71702282-71702283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565692050	chr9:71702284-71702285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142560695	chr9:71702320-71702321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79186434	chr9:71702321-71702322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543993919	chr9:71702332-71702333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201893192	chr9:71702333-71702334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201529320	chr9:71702334-71702335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185559666	chr9:71702361-71702362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138503849	chr9:71702433-71702434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374581672	chr9:71702440-71702441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574168548	chr9:71702478-71702479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140417242	chr9:71702489-71702490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556258290	chr9:71702529-71702530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113911361	chr9:71702573-71702574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10125005	chr9:71702636-71702637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150387486	chr9:71702786-71702787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138087286	chr9:71702787-71702788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190176506	chr9:71702803-71702804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs527919047	chr9:71702816-71702817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10116434	chr9:71702821-71702822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530765661	chr9:71702845-71702846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182784546	chr9:71702851-71702852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71683600-71704200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:71684400-71702200	Weak transcription	Primary B cells from cord blood	blood
3	chr9:71684800-71705800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:71686600-71704400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:71688600-71701600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:71688600-71704000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:71688800-71704000	Weak transcription	Placenta	Placenta
8	chr9:71688800-71709200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:71694200-71711800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:71699200-71704800	Weak transcription	Small Intestine	intestine
11	chr9:71700200-71701800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:71700400-71701800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:71700600-71701400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:71700600-71702000	Enhancers	Fetal Heart	heart
15	chr9:71700600-71702000	Enhancers	Right Atrium	heart
16	chr9:71700600-71702000	Enhancers	HUVEC	blood vessel
17	chr9:71700600-71702800	Enhancers	Fetal Stomach	stomach
18	chr9:71700800-71701600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr9:71700800-71701600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:71700800-71701600	Enhancers	Gastric	stomach
21	chr9:71700800-71701600	Enhancers	Left Ventricle	heart
22	chr9:71700800-71701600	Enhancers	Ovary	ovary
23	chr9:71700800-71701600	Enhancers	Right Ventricle	heart
24	chr9:71700800-71702000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:71700800-71702200	Enhancers	Fetal Kidney	kidney
26	chr9:71700800-71702200	Enhancers	Fetal Lung	lung
27	chr9:71700800-71702200	Enhancers	Pancreas	Pancrea
28	chr9:71701000-71701400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:71701000-71701400	Enhancers	Lung	lung
30	chr9:71701000-71701600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:71701000-71702000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr9:71701000-71702000	Flanking Active TSS	HepG2	liver
33	chr9:71701000-71702400	Enhancers	Stomach Mucosa	stomach
34	chr9:71701000-71703800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:71701000-71703800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr9:71701000-71703800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:71701000-71705600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:71701200-71701400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr9:71701200-71701600	Enhancers	Psoas Muscle	Psoas
40	chr9:71701200-71701600	Weak transcription	NHLF	lung
41	chr9:71701200-71701800	Enhancers	Liver	Liver
42	chr9:71701200-71704200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr9:71701200-71705200	Weak transcription	Adipose Nuclei	Adipose
44	chr9:71701200-71705600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:71701400-71701600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr9:71701400-71701600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:71701400-71704000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr9:71701400-71704600	Weak transcription	Lung	lung
49	chr9:71701400-71714400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:71701600-71702000	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links