Variant report

Variant	nsv605235
Chromosome Location	chr6:165115007-165214015
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:6)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:165117997..165120289-chr6:165120644..165122440,2	K562	blood:
2	chr6:165119728..165120228-chrX:107366674..107367661,2	MCF-7	breast:
3	chr6:165160068..165160918-chr8:98129240..98129986,2	MCF-7	breast:
4	chr5:128797111..128797864-chr6:165136910..165137454,2	MCF-7	breast:
5	chr6:165117997..165120289-chr6:165120644..165122440,2	K562	blood:
6	chr6:165110029..165112755-chr6:165114733..165117071,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf118-5	chr6:165155417-165155532	ucscGeneNc_uc003qul_1
2	lnc-C6orf118-5	chr6:165126854-165127631	ucscGeneNc_uc003qul_1
3	lnc-C6orf118-5	chr6:165138435-165138569	ucscGeneNc_uc003qul_1
4	lnc-QKI-12	chr6:165161229-165161442	NONHSAT115989
5	lnc-C6orf118-5	chr6:165139175-165139208	ucscGeneNc_uc003qul_1
6	lnc-C6orf118-1	chr6:165207066-165207641	NONHSAT115991
7	lnc-C6orf118-1	chr6:165206864-165207641	XLOC_005915
8	lnc-QKI-12	chr6:165163000-165163096	NONHSAT115989

No data

Variant related genes	Relation type
ENSG00000145808	chromatin interactions

Extended variants
information (count: 1297 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1297 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs903791	chr6:165115007-165115008	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188785724	chr6:165115008-165115009	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181342941	chr6:165115013-165115014	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs531840232	chr6:165115023-165115024	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541885662	chr6:165115066-165115067	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561767778	chr6:165115080-165115081	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs527707973	chr6:165115113-165115114	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547370902	chr6:165115154-165115155	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200422751	chr6:165115156-165115157	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs570764085	chr6:165115186-165115187	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533074548	chr6:165115200-165115201	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549952851	chr6:165115214-165115215	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs868389	chr6:165115265-165115266	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs185812208	chr6:165115326-165115327	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553486123	chr6:165115339-165115340	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs371983334	chr6:165115340-165115341	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs375607270	chr6:165115381-165115382	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs374317356	chr6:165115388-165115389	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs565760933	chr6:165115525-165115526	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs534641981	chr6:165115643-165115644	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564172776	chr6:165115652-165115653	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs191070228	chr6:165115659-165115660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546138306	chr6:165115709-165115710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138603916	chr6:165115748-165115749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181931444	chr6:165115872-165115873	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs564413343	chr6:165115893-165115894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376297891	chr6:165115901-165115902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs370460937	chr6:165115903-165115904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs118180971	chr6:165115927-165115928	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149261576	chr6:165116004-165116005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541075149	chr6:165116023-165116024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564277830	chr6:165116182-165116183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533267494	chr6:165116184-165116185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561535159	chr6:165116189-165116190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187666117	chr6:165116197-165116198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9365754	chr6:165116201-165116202	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs529132338	chr6:165116251-165116252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559709129	chr6:165116276-165116277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190465477	chr6:165116296-165116297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565824175	chr6:165116328-165116329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534656978	chr6:165116366-165116367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533128745	chr6:165116421-165116422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551364264	chr6:165116485-165116486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183011713	chr6:165116513-165116514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144486238	chr6:165116526-165116527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370029860	chr6:165116554-165116555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556606582	chr6:165116587-165116588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576658368	chr6:165116617-165116618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551310885	chr6:165116666-165116667	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs537478755	chr6:165116706-165116707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165111200-165117600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr6:165112200-165117200	Enhancers	Brain Germinal Matrix	brain
3	chr6:165112600-165115400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:165113200-165116400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:165113200-165117800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:165113200-165118000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:165113400-165115200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:165113400-165117600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:165113600-165116800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:165113800-165116800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:165113800-165117200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr6:165113800-165117400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:165113800-165117800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:165114000-165116600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:165114200-165115600	Weak transcription	Brain Anterior Caudate	brain
16	chr6:165114400-165117200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:165114600-165115600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:165114800-165115200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:165114800-165115200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:165114800-165115200	Active TSS	Brain Hippocampus Middle	brain
21	chr6:165114800-165115200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr6:165114800-165115400	Active TSS	Brain Angular Gyrus	brain
23	chr6:165114800-165115800	Enhancers	Fetal Brain Male	brain
24	chr6:165114800-165116000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:165114800-165116000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:165115000-165115200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:165115000-165115200	Active TSS	Brain Substantia Nigra	brain
28	chr6:165115000-165115600	Active TSS	Brain Cingulate Gyrus	brain
29	chr6:165115000-165115800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:165115000-165115800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:165115000-165115800	Enhancers	Fetal Muscle Leg	muscle
32	chr6:165115000-165116000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr6:165115000-165116200	Enhancers	Fetal Brain Female	brain
34	chr6:165115000-165116400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:165115200-165115400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:165115200-165115600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:165115200-165116600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:165115200-165116800	Enhancers	Brain Hippocampus Middle	brain
39	chr6:165115200-165117200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:165115200-165117200	Enhancers	Brain Substantia Nigra	brain
41	chr6:165115200-165117600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:165115400-165116000	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr6:165115400-165116800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:165115600-165116000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:165115600-165116000	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr6:165115600-165116600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:165115600-165116600	Enhancers	Brain Anterior Caudate	brain
48	chr6:165115600-165116800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:165115800-165116000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:165115800-165116600	Enhancers	HUVEC	blood vessel

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