Variant report

Variant	nsv1031922
Chromosome Location	chr6:39034484-39060762
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:39040219..39042267-chr6:39046191..39048280,2	K562	blood:
2	chr6:39059952..39062322-chr6:39081352..39083480,3	K562	blood:
3	chr6:39032106..39033612-chr6:39039523..39041550,2	K562	blood:
4	chr6:38964768..38966045-chr6:39059915..39060630,3	MCF-7	breast:
5	chr6:39049293..39050891-chr6:39079605..39081561,2	K562	blood:
6	chr6:39046271..39047893-chr6:39050344..39052466,2	K562	blood:
7	chr6:38970479..38971603-chr6:39058514..39059664,3	K562	blood:
8	chr6:39052982..39054673-chr6:39056335..39058628,2	K562	blood:
9	chr6:39054886..39057587-chr6:39057914..39060553,2	MCF-7	breast:
10	chr6:39056771..39059349-chr6:39083061..39085112,2	K562	blood:
11	chr6:39040219..39042267-chr6:39046191..39048280,2	K562	blood:
12	chr6:38997151..38998027-chr6:39059643..39060342,2	MCF-7	breast:
13	chr6:39049391..39052267-chr6:39080061..39083528,3	K562	blood:
14	chr6:39035655..39037159-chr6:39041534..39043180,2	K562	blood:
15	chr6:38941129..38941714-chr6:39059120..39059717,2	MCF-7	breast:
16	chr6:39052982..39054673-chr6:39056335..39058628,2	K562	blood:
17	chr6:39042906..39044931-chr6:39052683..39055087,2	MCF-7	breast:
18	chr6:38940785..38941562-chr6:39059873..39060576,3	MCF-7	breast:
19	chr6:39042906..39044931-chr6:39052683..39055087,2	MCF-7	breast:
20	chr6:39054886..39057587-chr6:39057914..39060553,2	MCF-7	breast:
21	chr6:39047800..39050333-chr6:39052277..39054288,2	K562	blood:
22	chr6:39046271..39047893-chr6:39050344..39052466,2	K562	blood:
23	chr6:38940416..38941559-chr6:39059453..39060636,4	K562	blood:
24	chr6:39035659..39037472-chr6:39041322..39043034,2	K562	blood:
25	chr6:39055835..39056584-chr6:39271011..39271689,3	K562	blood:
26	chr6:39047800..39050333-chr6:39052277..39054288,2	K562	blood:
27	chr6:39035659..39037472-chr6:39041322..39043034,2	K562	blood:
28	chr6:38940723..38941491-chr6:39055376..39056317,2	MCF-7	breast:
29	chr6:38997318..38997990-chr6:39055855..39056407,2	MCF-7	breast:
30	chr6:39035655..39037159-chr6:39041534..39043180,2	K562	blood:
31	chr6:39055500..39058719-chr6:39195179..39198658,3	K562	blood:
32	chr6:39056188..39058332-chr6:39081788..39085534,3	MCF-7	breast:
33	chr6:39055895..39057214-chr6:39125035..39125985,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164626	chromatin interactions
ENSG00000112167	chromatin interactions

Extended variants
information (count: 1238 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1238 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9296280	chr6:39034484-39034485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555403781	chr6:39034494-39034495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191610616	chr6:39034522-39034523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10305465	chr6:39034556-39034557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564779124	chr6:39034576-39034577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10305466	chr6:39034600-39034601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540924554	chr6:39034611-39034612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9296281	chr6:39034636-39034637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529255210	chr6:39034644-39034645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10305467	chr6:39034675-39034676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9296282	chr6:39034734-39034735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570174885	chr6:39034869-39034870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562954821	chr6:39034884-39034885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9394572	chr6:39034933-39034934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534600068	chr6:39034956-39034957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9296283	chr6:39034996-39034997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs183227951	chr6:39035007-39035008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539374635	chr6:39035082-39035083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546472089	chr6:39035089-39035090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9296284	chr6:39035132-39035133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541467220	chr6:39035219-39035220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7765641	chr6:39035250-39035251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555172407	chr6:39035270-39035271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568893802	chr6:39035281-39035282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10305468	chr6:39035296-39035297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78475454	chr6:39035309-39035310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190945995	chr6:39035318-39035319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182705832	chr6:39035319-39035320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563461641	chr6:39035369-39035370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554477498	chr6:39035393-39035394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186703842	chr6:39035408-39035409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542969265	chr6:39035436-39035437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541648320	chr6:39035444-39035445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7765879	chr6:39035521-39035522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35604163	chr6:39035530-39035531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369095572	chr6:39035551-39035552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138365601	chr6:39035584-39035585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386700358	chr6:39035645-39035646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111768622	chr6:39035646-39035647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7766068	chr6:39035647-39035648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532925330	chr6:39035656-39035657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7766228	chr6:39035713-39035714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148831263	chr6:39035726-39035727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7766663	chr6:39035782-39035783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192380408	chr6:39035798-39035799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568757191	chr6:39035829-39035830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537966162	chr6:39035830-39035831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7766275	chr6:39035836-39035837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs550910209	chr6:39035865-39035866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183262464	chr6:39035896-39035897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21510904	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39021200-39072000	Weak transcription	Gastric	stomach
2	chr6:39022400-39041600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:39024200-39057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:39027200-39036200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:39027400-39073000	Weak transcription	Pancreas	Pancrea
6	chr6:39028000-39036000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:39030400-39044800	Weak transcription	Right Atrium	heart
8	chr6:39033600-39052200	Weak transcription	Right Ventricle	heart
9	chr6:39034000-39042400	Weak transcription	Fetal Heart	heart
10	chr6:39036000-39036600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:39036200-39036400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:39036400-39050200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:39036600-39040400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:39039200-39040800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:39040000-39040400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:39040200-39041800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:39040200-39042000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:39040400-39043200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:39040800-39043800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:39041600-39043200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:39042000-39043000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:39042400-39045600	Enhancers	Fetal Heart	heart
23	chr6:39042400-39045800	Enhancers	GM12878-XiMat	blood
24	chr6:39042800-39043400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:39042800-39043400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:39042800-39043400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:39043000-39043200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:39043000-39043400	Enhancers	Left Ventricle	heart
29	chr6:39043200-39050200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:39043400-39044400	Weak transcription	Left Ventricle	heart
31	chr6:39043400-39082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:39043800-39044000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:39044400-39045600	Enhancers	Left Ventricle	heart
34	chr6:39044800-39045200	Enhancers	Right Atrium	heart
35	chr6:39045200-39045600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:39045200-39054000	Weak transcription	Right Atrium	heart
37	chr6:39045600-39051600	Weak transcription	Fetal Heart	heart
38	chr6:39047200-39047400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:39047400-39053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:39050000-39050200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:39050200-39050400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:39050200-39050400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr6:39050200-39050600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:39050200-39050800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:39050400-39050600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:39050400-39050600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:39050400-39055000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:39050400-39055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:39050600-39051000	Bivalent Enhancer	Fetal Stomach	stomach
50	chr6:39050600-39052200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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