Variant report

Variant	nsv883515
Chromosome Location	chr6:28156476-28181675
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:77)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:28078804..28081627-chr6:28178928..28180967,2	K562	blood:
2	chr6:28103775..28107091-chr6:28177064..28180460,3	K562	blood:
3	chr6:28163458..28166230-chr6:28188324..28191413,3	K562	blood:
4	chr6:27913399..27915263-chr6:28181371..28183189,2	K562	blood:
5	chr6:28103936..28106419-chr6:28177015..28179334,3	MCF-7	breast:
6	chr6:28109697..28111469-chr6:28165643..28168631,4	K562	blood:
7	chr6:28154956..28156603-chr6:28174738..28177213,2	K562	blood:
8	chr6:28113361..28114931-chr6:28160000..28161674,2	MCF-7	breast:
9	chr6:28178232..28180361-chr6:28366158..28368738,2	K562	blood:
10	chr6:28170099..28172681-chr6:28173612..28177819,3	K562	blood:
11	chr6:28178359..28182415-chr6:28302345..28306363,5	K562	blood:
12	chr6:28179220..28181310-chr6:28303360..28306255,2	MCF-7	breast:
13	chr6:28155594..28158275-chr6:28180139..28182137,2	K562	blood:
14	chr6:28181184..28183073-chr6:28320886..28323037,2	K562	blood:
15	chr6:28179297..28181762-chr6:28193422..28195568,2	MCF-7	breast:
16	chr6:28169001..28171000-chr6:28171450..28173526,2	K562	blood:
17	chr17:80186933..80187443-chr6:28165311..28165811,2	HCT-116	colon:
18	chr6:28177473..28179132-chr6:28218627..28221349,2	MCF-7	breast:
19	chr6:28153478..28156005-chr6:28158043..28160131,2	K562	blood:
20	chr6:28104315..28106178-chr6:28177345..28180593,3	MCF-7	breast:
21	chr6:28175786..28178014-chr6:28179307..28182825,4	MCF-7	breast:
22	chr6:28158814..28161708-chr6:28217777..28220100,2	MCF-7	breast:
23	chr6:28172570..28175998-chr6:28183959..28188768,7	K562	blood:
24	chr6:28174164..28176650-chr6:28369447..28371283,2	K562	blood:
25	chr6:28164945..28167358-chr6:28168626..28171324,2	MCF-7	breast:
26	chr6:28174435..28176569-chr6:28303412..28304973,2	MCF-7	breast:
27	chr6:28175915..28177544-chr6:28181092..28183263,2	K562	blood:
28	chr6:28180671..28183155-chr6:28250254..28252159,2	K562	blood:
29	chr6:28174974..28177419-chr6:28322626..28324224,2	K562	blood:
30	chr6:28166974..28169940-chr6:28315541..28317306,2	K562	blood:
31	chr6:28164945..28167358-chr6:28168626..28171324,2	MCF-7	breast:
32	chr6:28108322..28111152-chr6:28178112..28181694,4	K562	blood:
33	chr6:28170074..28175450-chr6:28180913..28183647,5	K562	blood:
34	chr6:28151155..28153263-chr6:28178363..28180275,2	K562	blood:
35	chr6:28103775..28113920-chr6:28177995..28190115,32	K562	blood:
36	chr6:28126773..28130386-chr6:28178914..28182864,4	K562	blood:
37	chr6:28180865..28183340-chr6:28228825..28231312,2	K562	blood:
38	chr6:28170099..28172681-chr6:28173612..28177819,3	K562	blood:
39	chr6:28128639..28130932-chr6:28178698..28181130,2	K562	blood:
40	chr6:28177601..28182191-chr6:28315411..28319291,5	K562	blood:
41	chr6:28170074..28175450-chr6:28180913..28183647,5	K562	blood:
42	chr6:28107476..28109917-chr6:28158452..28160425,2	K562	blood:
43	chr6:27856295..27859168-chr6:28179121..28180729,2	K562	blood:
44	chr6:28134260..28137056-chr6:28179298..28182084,4	K562	blood:
45	chr6:28156465..28159430-chr6:28159860..28163275,3	K562	blood:
46	chr6:28153118..28157382-chr6:28158456..28161800,4	MCF-7	breast:
47	chr6:27864015..27866427-chr6:28176005..28180203,3	K562	blood:
48	chr6:28167517..28171168-chr6:28177888..28180588,3	K562	blood:
49	chr6:27856891..27858596-chr6:28180873..28182467,2	K562	blood:
50	chr6:28166299..28169743-chr6:28173090..28175496,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF192-5	chr6:28155828-28157210	NONHSAT108447

No data

Variant related genes	Relation type
ENSG00000141526	chromatin interactions
ENSG00000235109	chromatin interactions
ENSG00000226314	chromatin interactions
ENSG00000198315	chromatin interactions
ENSG00000261839	chromatin interactions
ENSG00000137338	chromatin interactions
ENSG00000269293	chromatin interactions
ENSG00000238610	chromatin interactions
ENSG00000218016	chromatin interactions
ENSG00000187626	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000158691	chromatin interactions
ENSG00000176933	chromatin interactions
ENSG00000189298	chromatin interactions
ENSG00000137185	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000197062	chromatin interactions

Extended variants
information (count: 726 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1150685	chr6:28156476-28156477	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578234753	chr6:28156482-28156483	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
3	rs370108136	chr6:28156490-28156491	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs543610762	chr6:28156523-28156524	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs557635634	chr6:28156534-28156535	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs528189299	chr6:28156568-28156569	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs574221197	chr6:28156584-28156585	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs542619858	chr6:28156586-28156587	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs558960862	chr6:28156596-28156597	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs528058106	chr6:28156597-28156598	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs544753907	chr6:28156613-28156614	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs564630920	chr6:28156661-28156662	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs374071958	chr6:28156732-28156733	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs530629816	chr6:28156766-28156767	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs560759679	chr6:28156795-28156796	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs531300463	chr6:28156858-28156859	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs73740567	chr6:28156985-28156986	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529913007	chr6:28156992-28156993	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs546850796	chr6:28156993-28156994	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs566125965	chr6:28157050-28157051	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs12205680	chr6:28157104-28157105	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs140042833	chr6:28157156-28157157	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs558291111	chr6:28157166-28157167	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs571719636	chr6:28157167-28157168	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs537671615	chr6:28157212-28157213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs188152970	chr6:28157264-28157265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs16893761	chr6:28157285-28157286	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73740568	chr6:28157325-28157326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs147266353	chr6:28157393-28157394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs553251828	chr6:28157502-28157503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs75978391	chr6:28157622-28157623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs139710351	chr6:28157627-28157628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs202189084	chr6:28157662-28157663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs564643116	chr6:28157685-28157686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs530494819	chr6:28157748-28157749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191794923	chr6:28157787-28157788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560954070	chr6:28157822-28157823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs183649626	chr6:28157857-28157858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs188454799	chr6:28157893-28157894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546618017	chr6:28157897-28157898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs149769259	chr6:28157915-28157916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528495587	chr6:28157931-28157932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs551769702	chr6:28157968-28157969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532140119	chr6:28157978-28157979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs571781900	chr6:28157979-28157980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78901162	chr6:28158121-28158122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553264017	chr6:28158138-28158139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573155775	chr6:28158170-28158171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538269677	chr6:28158284-28158285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148481820	chr6:28158349-28158350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
Bipolar disorder	19114987	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28155000-28156800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr6:28155000-28157800	ZNF genes & repeats	Liver	Liver
3	chr6:28155200-28157200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
4	chr6:28155200-28157400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr6:28155200-28158000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:28155800-28156800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:28155800-28157000	ZNF genes & repeats	Aorta	Aorta
8	chr6:28156200-28157000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
9	chr6:28168200-28168400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
10	chr6:28169800-28170600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:28170000-28170600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr6:28170000-28170600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr6:28170000-28170600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:28170400-28170600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
15	chr6:28170400-28170800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:28171000-28171200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:28171000-28171200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr6:28171000-28171200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr6:28171000-28171400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:28171000-28171400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr6:28171200-28171400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr6:28172800-28173400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:28173400-28173800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:28173800-28174800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:28174000-28176400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr6:28174200-28174800	Enhancers	Duodenum Mucosa	Duodenum
27	chr6:28174200-28174800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:28174200-28174800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr6:28174200-28176400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr6:28174400-28174600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:28174600-28176400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr6:28174600-28176600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:28174800-28175000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:28174800-28175000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr6:28174800-28175000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:28174800-28175000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
37	chr6:28174800-28175000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:28174800-28175000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:28174800-28175000	Enhancers	Placenta	Placenta
40	chr6:28174800-28175000	Bivalent/Poised TSS	Psoas Muscle	Psoas
41	chr6:28174800-28175000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
42	chr6:28174800-28175000	Bivalent Enhancer	HepG2	liver
43	chr6:28174800-28175000	Bivalent Enhancer	NH-A	brain
44	chr6:28174800-28175000	Bivalent Enhancer	NHDF-Ad	bronchial
45	chr6:28174800-28175000	Bivalent Enhancer	Osteobl	bone
46	chr6:28174800-28175200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:28174800-28175200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:28174800-28175200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr6:28174800-28175200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:28174800-28175200	Bivalent Enhancer	Colonic Mucosa	Colon

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