Variant report

Variant	esv3451744
Chromosome Location	chr6:29542163-29556350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:1100)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:29554671-29554676	K562	blood:	n/a	n/a
2	CEBPB	chr6:29553716-29554000	HepG2	liver:	n/a	chr6:29553865-29553876
3	CEBPB	chr6:29548640-29548938	HepG2	liver:	n/a	chr6:29548797-29548808
4	CTCF	chr6:29556083-29556133	Fibrobl	skin:	n/a	n/a
5	CTCF	chr6:29548660-29548810	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr6:29542523-29542538	LNCaP	prostate:	n/a	n/a
7	E2F4	chr6:29547709-29547868	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:29544258-29544317	MCF10A-Er-Src	breast:	n/a	chr6:29544301-29544312
9	FOS	chr6:29544086-29544461	HUVEC	blood vessel:	n/a	chr6:29544301-29544312
10	GATA3	chr6:29555230-29555430	SH-SY5Y	brain:	n/a	chr6:29555328-29555339 chr6:29555328-29555335 chr6:29555321-29555342 chr6:29555328-29555335 chr6:29555328-29555335
11	JUN	chr6:29545419-29545680	HepG2	liver:	n/a	chr6:29545505-29545518
12	JUND	chr6:29545349-29545673	HepG2	liver:	n/a	n/a
13	MAFF	chr6:29548720-29548811	HepG2	liver:	n/a	n/a
14	MYC	chr6:29545317-29545419	NB4	blood:	n/a	n/a
15	POLR2A	chr6:29551701-29551739	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:29556106-29556135	A549	lung:	n/a	n/a
17	POLR2A	chr6:29549980-29550721	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr6:29547543-29547658	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:29555331-29555736	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:29553199-29553272	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:29554547-29554645	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:29554771-29554801	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr6:29547256-29547764	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr6:29554359-29556468	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr6:29555815-29555928	K562	blood:	n/a	n/a
26	POLR2A	chr6:29554497-29554662	K562	blood:	n/a	n/a
27	POLR2A	chr6:29555952-29556245	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:29544604-29544913	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr6:29556025-29556219	K562	blood:	n/a	n/a
30	POLR2A	chr6:29556122-29556165	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:29555629-29556001	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:29556021-29556057	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:29555267-29555660	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr6:29555617-29555620	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:29554475-29555185	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr6:29545207-29545595	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr6:29551927-29551929	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr6:29556264-29556380	K562	blood:	n/a	n/a
39	POLR2A	chr6:29549946-29550744	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr6:29556090-29556108	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr6:29555989-29556023	K562	blood:	n/a	n/a
42	POLR2A	chr6:29551422-29553547	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr6:29548814-29548985	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr6:29548453-29549307	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr6:29555339-29555910	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr6:29548245-29549410	H1-neurons	neurons:	n/a	n/a
47	RAD21	chr6:29549549-29549558	A549	lung:	n/a	n/a
48	STAT3	chr6:29544247-29544280	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr6:29549412-29549612	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr6:29544220-29544377	MCF10A-Er-Src	breast:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29555314-29555364	Hela-S3	cervix:	n/a
2	chr6:29548535-29548585	HCT-116	colon:	n/a
3	chr6:29555314-29555364	Hela-S3	cervix:	n/a
4	chr6:29548535-29548585	HCT-116	colon:	n/a
5	chr6:29555593-29555643	NH-A	brain:	n/a
6	chr6:29549147-29549197	A549	lung:	n/a
7	chr6:29556084-29556134	HIPEpiC	eye:	n/a
8	chr6:29556229-29556279	SK-N-SH_RA	brain:	n/a
9	chr6:29555593-29555643	HRCEpiC	kidney:	n/a
10	chr6:29556271-29556321	HEK293	kidney:	embryo
11	chr6:29556229-29556279	Hepatocyte	liver:	n/a
12	chr6:29548535-29548585	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:29549180-29549230	NHDF-neo	bronchial:	n/a
14	chr6:29555939-29555989	GM12878	blood:	n/a
15	chr6:29549724-29549774	CMK	blood:	n/a
16	chr6:29555799-29555849	Caco-2	colon:	n/a
17	chr6:29555939-29555989	GM12891	blood:	n/a
18	chr6:29548691-29548741	HEK293	kidney:	embryo
19	chr6:29549759-29549809	MCF10A-Er-Src	breast:	n/a
20	chr6:29549759-29549809	ProgFib	skin:	n/a
21	chr6:29549724-29549774	PFSK-1	brain:	n/a
22	chr6:29556084-29556134	AG04450	lung:	fetal
23	chr6:29549352-29549402	HEK293	kidney:	embryo
24	chr6:29554942-29554992	NT2-D1	testis:	n/a
25	chr6:29555314-29555364	PANC-1	pancreas:	n/a
26	chr6:29549352-29549402	AG04450	lung:	fetal
27	chr6:29556271-29556321	T-47D	breast:	n/a
28	chr6:29556225-29556275	CMK	blood:	n/a
29	chr6:29556271-29556321	PrEC	prostate:	n/a
30	chr6:29550134-29550184	AG04450	lung:	fetal
31	chr6:29548691-29548741	SK-N-SH_RA	brain:	n/a
32	chr6:29550134-29550184	GM19239	blood:	n/a
33	chr6:29556229-29556279	GM06990	blood:	n/a
34	chr6:29548691-29548741	PrEC	prostate:	n/a
35	chr6:29555314-29555364	NB4	blood:	n/a
36	chr6:29555799-29555849	HEEpiC	esophagus:	n/a
37	chr6:29555314-29555364	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:29555314-29555364	SK-N-MC	brain:	n/a
39	chr6:29548535-29548585	PANC-1	pancreas:	n/a
40	chr6:29556229-29556279	BJ	skin:	n/a
41	chr6:29549147-29549197	GM12878	blood:	n/a
42	chr6:29549180-29549230	RPTEC	kidney:	n/a
43	chr6:29550134-29550184	HCT-116	colon:	n/a
44	chr6:29548535-29548585	Caco-2	colon:	n/a
45	chr6:29556229-29556279	HCPEpiC	choroid plexus:	n/a
46	chr6:29555939-29555989	HMEC	breast:	n/a
47	chr6:29549147-29549197	RPTEC	kidney:	n/a
48	chr6:29550134-29550184	NT2-D1	testis:	n/a
49	chr6:29548535-29548585	A549	lung:	n/a
50	chr6:29556225-29556275	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:29551592..29553541-chr6:29558130..29559886,2	K562	blood:
2	chr6:29542932..29546952-chr6:29547558..29549945,4	K562	blood:
3	chr6:29539648..29541471-chr6:29551859..29553788,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2H2-3	chr6:29545236-29545525	NONHSAT108529

No data

Variant related genes	Relation type
RPL13AP	TF binding region
TMEM183AP1	TF binding region
SNORD32B	TF binding region
OR2H2	TF binding region
RPL13AP	CpG island
TMEM183AP1	CpG island
SNORD32B	CpG island
OR2H2	CpG island
ENSG00000227609	chromatin interactions

Extended variants
information (count: 521 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573666191	chr6:29542183-29542184	Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112248026	chr6:29542215-29542216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541228273	chr6:29542233-29542234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564708449	chr6:29542238-29542239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111355711	chr6:29542263-29542264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550155804	chr6:29542274-29542275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542384283	chr6:29542282-29542283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117342586	chr6:29542295-29542296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563664826	chr6:29542343-29542344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529244226	chr6:29542369-29542370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113117124	chr6:29542421-29542422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549003734	chr6:29542424-29542425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565795065	chr6:29542428-29542429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1233398	chr6:29542445-29542446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551257652	chr6:29542487-29542488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369522701	chr6:29542491-29542492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571435624	chr6:29542498-29542499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536883870	chr6:29542507-29542508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13206667	chr6:29542543-29542544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13190969	chr6:29542544-29542545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111843429	chr6:29542546-29542547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574030970	chr6:29542556-29542557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536246630	chr6:29542561-29542562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13190791	chr6:29542601-29542602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13190685	chr6:29542604-29542605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13191000	chr6:29542614-29542615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28986295	chr6:29542806-29542807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563742111	chr6:29542846-29542847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3025650	chr6:29542947-29542948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144228837	chr6:29542969-29542970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199702547	chr6:29543011-29543012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28383804	chr6:29543012-29543013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376127375	chr6:29543058-29543059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564861576	chr6:29543080-29543081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201854409	chr6:29543083-29543084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543654309	chr6:29543103-29543104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563628376	chr6:29543104-29543105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529550946	chr6:29543124-29543125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9468554	chr6:29543164-29543165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs568120853	chr6:29543183-29543184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545232615	chr6:29543190-29543191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559718723	chr6:29543216-29543217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528542271	chr6:29543259-29543260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143057169	chr6:29543263-29543264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185416061	chr6:29543268-29543269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530731527	chr6:29543416-29543417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117494567	chr6:29543436-29543437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567529212	chr6:29543461-29543462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190856481	chr6:29543494-29543495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370899132	chr6:29543514-29543515	Weak transcription	n/a	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:20 , 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	chr6:29541800-29542200	ZNF genes & repeats	Spleen	Spleen
3	chr6:29542000-29542200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:29542200-29545200	Weak transcription	Spleen	Spleen
5	chr6:29543600-29544400	Enhancers	HUVEC	blood vessel
6	chr6:29545200-29545400	Enhancers	Spleen	Spleen
7	chr6:29545400-29545600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:29545400-29549800	Weak transcription	Spleen	Spleen
9	chr6:29546000-29546200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:29546000-29546600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:29546000-29546600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:29546200-29546400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:29546200-29569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:29549000-29549200	Enhancers	HMEC	breast
15	chr6:29553200-29553400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr6:29553200-29553600	Enhancers	Brain Hippocampus Middle	brain
17	chr6:29553600-29553800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:29553600-29554600	Enhancers	HMEC	breast
19	chr6:29554400-29559800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:29554600-29556400	Weak transcription	HMEC	breast

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