Variant report

Variant	nsv886954
Chromosome Location	chr6:167814784-168056843
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:52)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:167861842..167863961-chr6:167871708..167874372,2	MCF-7	breast:
2	chr6:167914258..167914819-chr6:168216065..168216754,2	MCF-7	breast:
3	chr6:167919001..167920837-chr6:168203315..168206200,2	K562	blood:
4	chr20:57615578..57617834-chr6:167831422..167833295,2	MCF-7	breast:
5	chr6:167856387..167858834-chr6:167859425..167861161,2	MCF-7	breast:
6	chr6:167933169..167934909-chr6:168228308..168229994,2	MCF-7	breast:
7	chr6:167928199..167930011-chr6:167933316..167936071,2	K562	blood:
8	chr6:167934822..167935991-chr6:168151403..168152316,8	MCF-7	breast:
9	chr6:167861114..167862770-chr6:167864604..167866360,2	K562	blood:
10	chr6:167925590..167928422-chr6:167931344..167934014,3	K562	blood:
11	chr6:168044561..168046507-chr6:168060055..168061561,2	K562	blood:
12	chr6:167920908..167922945-chr6:167937159..167939048,2	K562	blood:
13	chr6:167899955..167902434-chr6:168226970..168229339,2	MCF-7	breast:
14	chr6:167920908..167922945-chr6:167937159..167939048,2	K562	blood:
15	chr6:167818746..167821496-chr6:167831177..167833070,2	K562	blood:
16	chr6:167935033..167935592-chr6:168197879..168198747,2	MCF-7	breast:
17	chr6:167891339..167893713-chr6:167896791..167899054,2	MCF-7	breast:
18	chr6:167856387..167858834-chr6:167859425..167861161,2	MCF-7	breast:
19	chr6:167813417..167815135-chr6:167817698..167819518,2	K562	blood:
20	chr6:167823826..167826272-chr6:167829672..167831832,2	K562	blood:
21	chr6:167891339..167893713-chr6:167896791..167899054,2	MCF-7	breast:
22	chr6:167823826..167826272-chr6:167829672..167831832,2	K562	blood:
23	chr6:167913934..167914986-chr6:168072123..168073143,3	MCF-7	breast:
24	chr6:167889974..167892583-chr6:167894869..167897324,2	K562	blood:
25	chr6:167861114..167862770-chr6:167864604..167866360,2	K562	blood:
26	chr6:168043293..168045064-chr6:168047210..168049663,2	K562	blood:
27	chr6:168040917..168042569-chr6:168050282..168052212,2	K562	blood:
28	chr6:168040917..168042569-chr6:168050282..168052212,2	K562	blood:
29	chr6:167847263..167849209-chr6:167850968..167853200,2	K562	blood:
30	chr6:167861842..167863961-chr6:167871708..167874372,2	MCF-7	breast:
31	chr6:167818746..167821496-chr6:167831177..167833070,2	K562	blood:
32	chr6:167846347..167849301-chr6:167863544..167865130,2	K562	blood:
33	chr6:167919860..167921861-chr6:167925968..167927495,2	K562	blood:
34	chr6:167846347..167849301-chr6:167863544..167865130,2	K562	blood:
35	chr6:167909651..167912483-chr6:167916491..167918061,2	K562	blood:
36	chr6:167897864..167898510-chr6:168299474..168300098,2	MCF-7	breast:
37	chr6:167925590..167928422-chr6:167931344..167934014,3	K562	blood:
38	chr6:167885454..167887451-chr6:168304166..168306220,2	K562	blood:
39	chr6:167813417..167815135-chr6:167817698..167819518,2	K562	blood:
40	chr6:168043293..168045064-chr6:168047210..168049663,2	K562	blood:
41	chr6:167919860..167921861-chr6:167925968..167927495,2	K562	blood:
42	chr6:167847263..167849209-chr6:167850968..167853200,2	K562	blood:
43	chr6:167934371..167936970-chr6:168150080..168151827,3	MCF-7	breast:
44	chr6:168054377..168056867-chr6:168352473..168355430,2	K562	blood:
45	chr6:167929864..167932248-chr6:168215195..168216981,2	MCF-7	breast:
46	chr6:167909651..167912483-chr6:167916491..167918061,2	K562	blood:
47	chr6:167928199..167930011-chr6:167933316..167936071,2	K562	blood:
48	chr6:167934822..167935991-chr6:168151403..168152316,10	MCF-7	breast:
49	chr6:167849315..167851069-chr6:167878809..167881578,2	K562	blood:
50	chr6:167849315..167851069-chr6:167878809..167881578,2	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP10-3	chr6:167838864-167838906	ucscGeneNc_uc003qvy_1
2	lnc-TCP10-5	chr6:167928070-167929025	ucscGeneNc_uc003qvz_2
3	lnc-TCP10-3	chr6:167823155-167825466	ucscGeneNc_uc003qvy_1
4	lnc-TCP10-5	chr6:167940138-167940236	ucscGeneNc_uc003qvz_2
5	lnc-TTLL2-2	chr6:167840757-167840858	NONHSAT116104
6	lnc-TCP10-2	chr6:167821589-167821728	ucscGeneNc_uc003qvx_1
7	lnc-TCP10-4	chr6:167909845-167909968	NONHSAT116105
8	lnc-TCP10-3	chr6:167839733-167839819	ucscGeneNc_uc003qvy_1
9	lnc-TTLL2-2	chr6:167837702-167837948	NONHSAT116104
10	lnc-TCP10-3	chr6:167839445-167839616	ucscGeneNc_uc003qvy_1
11	lnc-TCP10-5	chr6:167934476-167934622	ucscGeneNc_uc003qvz_2
12	lnc-TCP10-4	chr6:167910539-167910634	NONHSAT116105
13	lnc-TCP10-5	chr6:167930843-167931136	ucscGeneNc_uc003qvz_2
14	lnc-TCP10-3	chr6:167826637-167827774	ucscGeneNc_uc003qvy_1
15	lnc-TCP10-2	chr6:167822441-167822752	ucscGeneNc_uc003qvx_1
16	lnc-TCP10-3	chr6:167825862-167825976	ucscGeneNc_uc003qvy_1

No data

Variant related genes	Relation type
ENSG00000130396	chromatin interactions
ENSG00000198221	chromatin interactions
ENSG00000101166	chromatin interactions

Extended variants
information (count: 6554 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:6554 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4708777	chr6:167814784-167814785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531914586	chr6:167814813-167814814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550143224	chr6:167814820-167814821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147125712	chr6:167814821-167814822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138533227	chr6:167814833-167814834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373771815	chr6:167814841-167814842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565696849	chr6:167814861-167814862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562461897	chr6:167814900-167814901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555609522	chr6:167814913-167814914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567476985	chr6:167814923-167814924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372649801	chr6:167814968-167814969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576381054	chr6:167814992-167814993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533708818	chr6:167815075-167815076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556438332	chr6:167815110-167815111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149200449	chr6:167815132-167815133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192820248	chr6:167815146-167815147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553911625	chr6:167815196-167815197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182610887	chr6:167815211-167815212	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542278238	chr6:167815212-167815213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs117736218	chr6:167815247-167815248	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs143329616	chr6:167815265-167815266	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs543608121	chr6:167815272-167815273	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565092899	chr6:167815286-167815287	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556165127	chr6:167815308-167815309	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs369202918	chr6:167815310-167815311	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs117024702	chr6:167815329-167815330	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs148343465	chr6:167815356-167815357	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs111979333	chr6:167815366-167815367	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141476952	chr6:167815400-167815401	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs559771900	chr6:167815428-167815429	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs527300567	chr6:167815434-167815435	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs4709179	chr6:167815451-167815452	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs55750239	chr6:167815467-167815468	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs538850066	chr6:167815476-167815477	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs553872929	chr6:167815477-167815478	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs572082692	chr6:167815491-167815492	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs146318045	chr6:167815524-167815525	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs549296513	chr6:167815558-167815559	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs554318289	chr6:167815592-167815593	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs138264801	chr6:167815594-167815595	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs543668565	chr6:167815608-167815609	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs565253812	chr6:167815615-167815616	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs374234093	chr6:167815616-167815617	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs576996641	chr6:167815619-167815620	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs567449647	chr6:167815620-167815621	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs541257200	chr6:167815648-167815649	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs73788635	chr6:167815653-167815654	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs55984518	chr6:167815656-167815657	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548559472	chr6:167815699-167815700	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs563487494	chr6:167815759-167815760	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	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	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21865298	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1426 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167810400-167814800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:167812800-167815200	Weak transcription	Spleen	Spleen
3	chr6:167813600-167815400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:167814200-167815200	Enhancers	HepG2	liver
5	chr6:167814200-167816000	Enhancers	Fetal Intestine Large	intestine
6	chr6:167814600-167815000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:167814600-167815800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:167814600-167816000	Enhancers	Fetal Intestine Small	intestine
9	chr6:167814800-167815800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr6:167815000-167815600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr6:167815000-167816000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:167815000-167817400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:167815200-167815400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:167815200-167815400	Enhancers	Spleen	Spleen
15	chr6:167815200-167815400	Flanking Active TSS	HepG2	liver
16	chr6:167815200-167815600	Enhancers	Colonic Mucosa	Colon
17	chr6:167815200-167815800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:167815200-167816000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:167815200-167816000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr6:167815400-167816000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:167815400-167816200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:167815400-167820800	Bivalent Enhancer	HepG2	liver
23	chr6:167815600-167816000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:167815600-167816000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr6:167815800-167816200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:167815800-167820200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:167816000-167820400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:167816000-167820800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:167816200-167817400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:167817400-167817800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:167817800-167821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:167818000-167818400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:167818400-167818600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:167818600-167820800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:167820200-167821400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr6:167820200-167821600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:167820400-167821600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:167820400-167822200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr6:167820800-167821400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:167820800-167821400	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr6:167820800-167822200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:167821000-167821400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:167821000-167821400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:167821000-167821400	Enhancers	Pancreas	Pancrea
45	chr6:167821000-167821600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:167821000-167821600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:167821000-167822200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
48	chr6:167821200-167821400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:167821200-167821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:167821200-167822000	Enhancers	Fetal Brain Female	brain

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