Variant report

Variant	nsv601228
Chromosome Location	chr6:29496220-29500287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr6:29497223-29497559	GM12878	blood:	n/a	chr6:29497402-29497413 chr6:29497401-29497414 chr6:29497384-29497395
2	FOS	chr6:29499512-29499680	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr6:29499543-29499751	MCF10A-Er-Src	breast:	n/a	n/a
4	HMGN3	chr6:29496760-29497171	K562	blood:	n/a	n/a
5	JUN	chr6:29496199-29496293	HepG2	liver:	n/a	chr6:29496257-29496270
6	JUND	chr6:29496095-29496427	HepG2	liver:	n/a	chr6:29496409-29496418
7	MAX	chr6:29496363-29496489	NB4	blood:	n/a	n/a
8	POLR2A	chr6:29498913-29498926	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF2	chr6:29498829-29498891	HepG2	liver:	n/a	n/a
10	ZNF263	chr6:29498851-29499253	HEK293-T-REx	kidney:	n/a	chr6:29499048-29499069

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29497165-29497215	HCPEpiC	choroid plexus:	n/a
2	chr6:29497165-29497215	NHDF-neo	bronchial:	n/a
3	chr6:29497165-29497215	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:29497165-29497215	T-47D	breast:	n/a
5	chr6:29496514-29496564	ProgFib	skin:	n/a
6	chr6:29497165-29497215	HRPEpiC	eye:	n/a
7	chr6:29497165-29497215	HCM	heart:	n/a
8	chr6:29496514-29496564	NH-A	brain:	n/a
9	chr6:29496514-29496564	H1-hESC	embryonic stem cell:	embryo
10	chr6:29497165-29497215	HRCEpiC	kidney:	n/a
11	chr6:29496514-29496564	IMR90	lung:	fetal
12	chr6:29496514-29496564	GM12891	blood:	n/a
13	chr6:29496514-29496564	SKMC	muscle:	n/a
14	chr6:29497165-29497215	GM12892	blood:	n/a
15	chr6:29496514-29496564	HCM	heart:	n/a
16	chr6:29496514-29496564	HPAEpiC	pulmonary alveolar:	n/a
17	chr6:29496514-29496564	Hepatocyte	liver:	n/a
18	chr6:29496514-29496564	NB4	blood:	n/a
19	chr6:29496514-29496564	U87	brain:	n/a
20	chr6:29496514-29496564	AoSMC	blood vessel:	n/a
21	chr6:29497165-29497215	HL-60	blood:	n/a
22	chr6:29497165-29497215	AG04450	lung:	fetal
23	chr6:29497165-29497215	GM12891	blood:	n/a
24	chr6:29497165-29497215	GM06990	blood:	n/a
25	chr6:29497165-29497215	Jurkat	blood:	n/a
26	chr6:29496514-29496564	NHDF-neo	bronchial:	n/a
27	chr6:29496514-29496564	HIPEpiC	eye:	n/a
28	chr6:29497165-29497215	NH-A	brain:	n/a
29	chr6:29497165-29497215	SKMC	muscle:	n/a
30	chr6:29497165-29497215	AoSMC	blood vessel:	n/a
31	chr6:29496514-29496564	HRE	kidney:	n/a
32	chr6:29496514-29496564	ovcar-3	ovarian:	n/a
33	chr6:29497165-29497215	HMEC	breast:	n/a
34	chr6:29497165-29497215	BE2_C	brain:	n/a
35	chr6:29497165-29497215	HEK293	kidney:	embryo
36	chr6:29497165-29497215	ovcar-3	ovarian:	n/a
37	chr6:29496514-29496564	RPTEC	kidney:	n/a
38	chr6:29497165-29497215	HNPCEpiC	eye:	n/a
39	chr6:29497165-29497215	PFSK-1	brain:	n/a
40	chr6:29496514-29496564	PrEC	prostate:	n/a
41	chr6:29497165-29497215	MCF10A-Er-Src	breast:	n/a
42	chr6:29496514-29496564	HUVEC	blood vessel:	n/a
43	chr6:29497165-29497215	HEEpiC	esophagus:	n/a
44	chr6:29497165-29497215	NHBE	bronchial:	n/a
45	chr6:29496514-29496564	MCF-7	breast:	n/a
46	chr6:29496514-29496564	HEEpiC	esophagus:	n/a
47	chr6:29496514-29496564	HNPCEpiC	eye:	n/a
48	chr6:29496514-29496564	HCPEpiC	choroid plexus:	n/a
49	chr6:29497165-29497215	HUVEC	blood vessel:	n/a
50	chr6:29496514-29496564	AG09319	gingival:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29483683..29485672-chr6:29497592..29500057,2	K562	blood:
2	chr6:29490586..29492205-chr6:29493882..29496471,2	K562	blood:
3	chr6:29498758..29502303-chr6:29502366..29506492,4	K562	blood:
4	chr6:29494254..29496248-chr6:29505741..29508107,2	K562	blood:
5	chr6:29232193..29235031-chr6:29499075..29500659,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2H2-2	chr6:29497726-29497820	NONHSAT108527
2	lnc-OR2H2-2	chr6:29499857-29499934	ENSG00000224582.1
3	lnc-OR2H2-2	chr6:29497726-29497820	ENSG00000224582.1
4	lnc-OR2H2-2	chr6:29498829-29498945	NONHSAT108527
5	lnc-OR2H2-2	chr6:29498829-29501345	NONHSAT108525
6	lnc-OR2H2-2	chr6:29498829-29501345	NONHSAT108526
7	lnc-OR2H2-2	chr6:29497726-29497820	NONHSAT108526
8	lnc-OR2H2-2	chr6:29497183-29497361	NONHSAT108525
9	lnc-OR2H2-2	chr6:29498829-29501345	ENSG00000224582.1
10	lnc-OR2H2-2	chr6:29497183-29497361	NONHSAT108526
11	lnc-OR2H2-2	chr6:29499857-29501345	NONHSAT108527
12	lnc-OR2H2-2	chr6:29498829-29498945	ENSG00000224582.1
13	lnc-OR2H2-2	chr6:29497726-29497820	ENSG00000224582.1
14	lnc-OR2H2-2	chr6:29498829-29499181	NONHSAT108528
15	lnc-OR2H2-2	chr6:29497253-29497361	ENSG00000224582.1
16	lnc-OR2H2-2	chr6:29497197-29497361	ENSG00000224582.1
17	lnc-OR2H2-2	chr6:29497959-29498322	NONHSAT108528
18	lnc-OR2H2-2	chr6:29497183-29497361	NONHSAT108527

No data

Variant related genes	Relation type
LINC01015	TF binding region
LINC01015	CpG island
ENSG00000229281	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6939431	chr6:29496220-29496221	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543403940	chr6:29496262-29496263	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113225299	chr6:29496263-29496264	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs141698855	chr6:29496293-29496294	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs570720928	chr6:29496322-29496323	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs539841317	chr6:29496362-29496363	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs115080308	chr6:29496390-29496391	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs182014713	chr6:29496450-29496451	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs555597967	chr6:29496502-29496503	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576849790	chr6:29496506-29496507	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139591778	chr6:29496514-29496515	ZNF genes & repeats Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs540952353	chr6:29496542-29496543	ZNF genes & repeats Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs564422435	chr6:29496623-29496624	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186943827	chr6:29496638-29496639	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1233427	chr6:29496664-29496665	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191830052	chr6:29496699-29496700	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572712883	chr6:29496735-29496736	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9501676	chr6:29496776-29496777	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548718307	chr6:29496875-29496876	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs9257901	chr6:29496876-29496877	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527899651	chr6:29496953-29496954	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547743344	chr6:29496990-29496991	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs571125706	chr6:29496993-29496994	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs9501677	chr6:29497002-29497003	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs374152952	chr6:29497030-29497031	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs372513212	chr6:29497072-29497073	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs182641820	chr6:29497136-29497137	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs148459551	chr6:29497147-29497148	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs570110602	chr6:29497155-29497156	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs185418844	chr6:29497274-29497275	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs531610186	chr6:29497296-29497297	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs200945806	chr6:29497324-29497325	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs143483637	chr6:29497383-29497384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541244838	chr6:29497393-29497394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557723072	chr6:29497408-29497409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577881450	chr6:29497425-29497426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189783821	chr6:29497450-29497451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369482964	chr6:29497461-29497462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62408601	chr6:29497473-29497474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182115444	chr6:29497476-29497477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542279099	chr6:29497483-29497484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62408602	chr6:29497504-29497505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376370422	chr6:29497543-29497544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527832974	chr6:29497546-29497547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9468549	chr6:29497569-29497570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570996993	chr6:29497570-29497571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146757375	chr6:29497597-29497598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550523298	chr6:29497620-29497621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570050243	chr6:29497721-29497722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111514736	chr6:29497768-29497769	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29493000-29496400	Weak transcription	Pancreas	Pancrea
2	chr6:29496000-29496400	Enhancers	Liver	Liver
3	chr6:29496200-29497000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:29496400-29497200	Enhancers	Pancreas	Pancrea
5	chr6:29497000-29515000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:29497200-29499000	Weak transcription	Pancreas	Pancrea
7	chr6:29498800-29499400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:29498800-29500000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:29498800-29500200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:29499000-29499400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:29499000-29499600	Enhancers	Pancreas	Pancrea
12	chr6:29499000-29499600	Enhancers	NHEK	skin

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