Variant report

Variant	nsv527592
Chromosome Location	chr6:29545715-29550618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:550)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:29548640-29548938	HepG2	liver:	n/a	chr6:29548797-29548808
2	CTCF	chr6:29548660-29548810	WERI-Rb-1	eye:	n/a	n/a
3	E2F4	chr6:29547709-29547868	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFF	chr6:29548720-29548811	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:29548814-29548985	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:29548453-29549307	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr6:29549980-29550721	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr6:29548245-29549410	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr6:29547543-29547658	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:29549946-29550744	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr6:29547256-29547764	H1-neurons	neurons:	n/a	n/a
12	RAD21	chr6:29549549-29549558	A549	lung:	n/a	n/a
13	STAT3	chr6:29549412-29549612	MCF10A-Er-Src	breast:	n/a	n/a
14	USF1	chr6:29548947-29549221	H1-hESC	embryonic stem cell:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29548535-29548585	HPAEpiC	pulmonary alveolar:	n/a
2	chr6:29548535-29548585	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:29549724-29549774	GM12891	blood:	n/a
4	chr6:29548535-29548585	AG04449	skin:	fetal
5	chr6:29549147-29549197	SKMC	muscle:	n/a
6	chr6:29548691-29548741	GM12891	blood:	n/a
7	chr6:29549147-29549197	U87	brain:	n/a
8	chr6:29549759-29549809	HMEC	breast:	n/a
9	chr6:29549147-29549197	HepG2	liver:	n/a
10	chr6:29548535-29548585	MCF-7	breast:	n/a
11	chr6:29549180-29549230	HCT-116	colon:	n/a
12	chr6:29549180-29549230	RPTEC	kidney:	n/a
13	chr6:29549759-29549809	Jurkat	blood:	n/a
14	chr6:29549147-29549197	AG10803	skin:	n/a
15	chr6:29550134-29550184	RPTEC	kidney:	n/a
16	chr6:29548535-29548585	LNCaP	prostate:	n/a
17	chr6:29549352-29549402	HCPEpiC	choroid plexus:	n/a
18	chr6:29549180-29549230	HCF	heart:	n/a
19	chr6:29549352-29549402	Jurkat	blood:	n/a
20	chr6:29550134-29550184	HEK293	kidney:	embryo
21	chr6:29549147-29549197	HAEpiC	amniotic membrane:	n/a
22	chr6:29549759-29549809	ovcar-3	ovarian:	n/a
23	chr6:29549724-29549774	GM12878	blood:	n/a
24	chr6:29549759-29549809	HEK293	kidney:	embryo
25	chr6:29549180-29549230	GM12892	blood:	n/a
26	chr6:29549759-29549809	PANC-1	pancreas:	n/a
27	chr6:29548535-29548585	HAEpiC	amniotic membrane:	n/a
28	chr6:29549352-29549402	Hepatocyte	liver:	n/a
29	chr6:29548691-29548741	PANC-1	pancreas:	n/a
30	chr6:29548535-29548585	NHDF-neo	bronchial:	n/a
31	chr6:29549352-29549402	GM06990	blood:	n/a
32	chr6:29548535-29548585	AG10803	skin:	n/a
33	chr6:29549724-29549774	RPTEC	kidney:	n/a
34	chr6:29549759-29549809	K562	blood:	n/a
35	chr6:29548691-29548741	RPTEC	kidney:	n/a
36	chr6:29549724-29549774	A549	lung:	n/a
37	chr6:29550134-29550184	HAEpiC	amniotic membrane:	n/a
38	chr6:29549352-29549402	NH-A	brain:	n/a
39	chr6:29549759-29549809	CMK	blood:	n/a
40	chr6:29548535-29548585	PANC-1	pancreas:	n/a
41	chr6:29549352-29549402	GM19239	blood:	n/a
42	chr6:29548691-29548741	HEK293	kidney:	embryo
43	chr6:29549180-29549230	BJ	skin:	n/a
44	chr6:29550425-29550475	HIPEpiC	eye:	n/a
45	chr6:29549759-29549809	H1-hESC	embryonic stem cell:	embryo
46	chr6:29548535-29548585	ECC-1	luminal epithelium:	n/a
47	chr6:29548535-29548585	Hepatocyte	liver:	n/a
48	chr6:29550134-29550184	AG04449	skin:	fetal
49	chr6:29549759-29549809	T-47D	breast:	n/a
50	chr6:29549724-29549774	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29542932..29546952-chr6:29547558..29549945,4	K562	blood:

No data

Variant related genes	Relation type
RPL13AP	TF binding region
SNORD32B	TF binding region
RPL13AP	CpG island
SNORD32B	CpG island
ENSG00000227609	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs1233397	chr6:29545715-29545716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146700218	chr6:29545721-29545722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556994944	chr6:29545826-29545827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575449135	chr6:29545932-29545933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576046024	chr6:29546000-29546001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28986296	chr6:29546004-29546005	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182728988	chr6:29546007-29546008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188153128	chr6:29546029-29546030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540385194	chr6:29546090-29546091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6922798	chr6:29546229-29546230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs140303648	chr6:29546251-29546252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143542153	chr6:29546280-29546281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192332543	chr6:29546323-29546324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531511685	chr6:29546327-29546328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373289874	chr6:29546336-29546337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541379916	chr6:29546361-29546362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184287319	chr6:29546407-29546408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527348381	chr6:29546489-29546490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539890833	chr6:29546537-29546538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187569350	chr6:29546561-29546562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192699778	chr6:29546568-29546569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532585093	chr6:29546583-29546584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148044727	chr6:29546683-29546684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141785205	chr6:29546714-29546715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184628180	chr6:29546841-29546842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78714082	chr6:29546858-29546859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554967362	chr6:29546865-29546866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568346546	chr6:29546875-29546876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4568477	chr6:29546912-29546913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534225970	chr6:29546932-29546933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553970693	chr6:29546940-29546941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150167182	chr6:29546943-29546944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138988689	chr6:29547013-29547014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562538757	chr6:29547037-29547038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541738755	chr6:29547052-29547053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543015773	chr6:29547063-29547064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181431243	chr6:29547071-29547072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370349943	chr6:29547174-29547175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527272878	chr6:29547262-29547263	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs61584954	chr6:29547264-29547265	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183986855	chr6:29547294-29547295	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs533047562	chr6:29547360-29547361	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs552774561	chr6:29547383-29547384	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs113663086	chr6:29547465-29547466	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs372830244	chr6:29547540-29547541	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs61052886	chr6:29547543-29547544	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs139955897	chr6:29547593-29547594	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs568781373	chr6:29547604-29547605	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs533931141	chr6:29547675-29547676	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs189681662	chr6:29547763-29547764	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29541200-29553200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:29545400-29549800	Weak transcription	Spleen	Spleen
3	chr6:29546000-29546200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:29546000-29546600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:29546000-29546600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:29546200-29546400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:29546200-29569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:29549000-29549200	Enhancers	HMEC	breast

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