Variant report

Variant	esv2504304
Chromosome Location	chr6:29544264-29553307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:549)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 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	FOS	chr6:29544086-29544461	HUVEC	blood vessel:	n/a	chr6:29544301-29544312
5	FOS	chr6:29544258-29544317	MCF10A-Er-Src	breast:	n/a	chr6:29544301-29544312
6	JUN	chr6:29545419-29545680	HepG2	liver:	n/a	chr6:29545505-29545518
7	JUND	chr6:29545349-29545673	HepG2	liver:	n/a	n/a
8	MAFF	chr6:29548720-29548811	HepG2	liver:	n/a	n/a
9	MYC	chr6:29545317-29545419	NB4	blood:	n/a	n/a
10	POLR2A	chr6:29548453-29549307	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr6:29545207-29545595	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr6:29551422-29553547	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr6:29551927-29551929	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:29544604-29544913	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr6:29548245-29549410	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr6:29547256-29547764	H1-neurons	neurons:	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	chr6:29548814-29548985	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:29551701-29551739	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:29553199-29553272	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:29549946-29550744	H1-neurons	neurons:	n/a	n/a
23	RAD21	chr6:29549549-29549558	A549	lung:	n/a	n/a
24	STAT3	chr6:29549412-29549612	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr6:29544220-29544377	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr6:29544247-29544280	MCF10A-Er-Src	breast:	n/a	n/a
27	USF1	chr6:29548947-29549221	H1-hESC	embryonic stem cell:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29549759-29549809	PFSK-1	brain:	n/a
2	chr6:29549180-29549230	HRE	kidney:	n/a
3	chr6:29549352-29549402	BE2_C	brain:	n/a
4	chr6:29549180-29549230	IMR90	lung:	fetal
5	chr6:29548535-29548585	HRE	kidney:	n/a
6	chr6:29550425-29550475	LNCaP	prostate:	n/a
7	chr6:29549180-29549230	Hepatocyte	liver:	n/a
8	chr6:29549147-29549197	NHDF-neo	bronchial:	n/a
9	chr6:29549180-29549230	AG10803	skin:	n/a
10	chr6:29548691-29548741	ProgFib	skin:	n/a
11	chr6:29549352-29549402	HCPEpiC	choroid plexus:	n/a
12	chr6:29549724-29549774	HRCEpiC	kidney:	n/a
13	chr6:29549724-29549774	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:29549724-29549774	HCT-116	colon:	n/a
15	chr6:29549759-29549809	AoSMC	blood vessel:	n/a
16	chr6:29548535-29548585	PFSK-1	brain:	n/a
17	chr6:29548535-29548585	NT2-D1	testis:	n/a
18	chr6:29549724-29549774	MCF-7	breast:	n/a
19	chr6:29549147-29549197	AG04450	lung:	fetal
20	chr6:29548535-29548585	HL-60	blood:	n/a
21	chr6:29549352-29549402	ECC-1	luminal epithelium:	n/a
22	chr6:29549147-29549197	HCPEpiC	choroid plexus:	n/a
23	chr6:29550134-29550184	SK-N-SH_RA	brain:	n/a
24	chr6:29549147-29549197	SAEC	small airway:	n/a
25	chr6:29549759-29549809	HRCEpiC	kidney:	n/a
26	chr6:29550134-29550184	GM12878	blood:	n/a
27	chr6:29549759-29549809	HCM	heart:	n/a
28	chr6:29549724-29549774	AoSMC	blood vessel:	n/a
29	chr6:29549724-29549774	BJ	skin:	n/a
30	chr6:29550425-29550475	AG04450	lung:	fetal
31	chr6:29549147-29549197	HEK293	kidney:	embryo
32	chr6:29548535-29548585	GM12878	blood:	n/a
33	chr6:29549180-29549230	BJ	skin:	n/a
34	chr6:29549147-29549197	HNPCEpiC	eye:	n/a
35	chr6:29549180-29549230	MCF-7	breast:	n/a
36	chr6:29548691-29548741	HEEpiC	esophagus:	n/a
37	chr6:29550425-29550475	NHDF-neo	bronchial:	n/a
38	chr6:29548691-29548741	PrEC	prostate:	n/a
39	chr6:29549180-29549230	HIPEpiC	eye:	n/a
40	chr6:29549724-29549774	HCPEpiC	choroid plexus:	n/a
41	chr6:29549352-29549402	HCT-116	colon:	n/a
42	chr6:29550425-29550475	SK-N-SH	brain:	n/a
43	chr6:29549180-29549230	NHDF-neo	bronchial:	n/a
44	chr6:29549147-29549197	AoSMC	blood vessel:	n/a
45	chr6:29550425-29550475	GM12892	blood:	n/a
46	chr6:29549147-29549197	GM19239	blood:	n/a
47	chr6:29549180-29549230	GM12892	blood:	n/a
48	chr6:29549724-29549774	HRPEpiC	eye:	n/a
49	chr6:29549759-29549809	HAEpiC	amniotic membrane:	n/a
50	chr6:29548691-29548741	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:29542932..29546952-chr6:29547558..29549945,4	K562	blood:
2	chr6:29551592..29553541-chr6:29558130..29559886,2	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: 307 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558275624	chr6:29544323-29544324	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568887478	chr6:29544429-29544430	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371632317	chr6:29544459-29544460	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537569029	chr6:29544471-29544472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139973529	chr6:29544547-29544548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12528017	chr6:29544551-29544552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149863305	chr6:29544593-29544594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553626906	chr6:29544707-29544708	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575386408	chr6:29544726-29544727	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs3117073	chr6:29544825-29544826	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs183354702	chr6:29544843-29544844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565141258	chr6:29544855-29544856	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs371310332	chr6:29544890-29544891	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs144891670	chr6:29544919-29544920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544736706	chr6:29544931-29544932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187606699	chr6:29544965-29544966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546515844	chr6:29544981-29544982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532529427	chr6:29545020-29545021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547974445	chr6:29545032-29545033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140804574	chr6:29545056-29545057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375527364	chr6:29545117-29545118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552121313	chr6:29545130-29545131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540204954	chr6:29545135-29545136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561667993	chr6:29545173-29545174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568526861	chr6:29545190-29545191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs362522	chr6:29545208-29545209	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs547860687	chr6:29545223-29545224	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs567862387	chr6:29545231-29545232	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs3025649	chr6:29545232-29545233	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562677586	chr6:29545242-29545243	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs374357401	chr6:29545283-29545284	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs538987764	chr6:29545306-29545307	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs558880164	chr6:29545352-29545353	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs575696142	chr6:29545354-29545355	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs551718492	chr6:29545360-29545361	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs542413038	chr6:29545369-29545370	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs201922225	chr6:29545378-29545379	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs574993624	chr6:29545381-29545382	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs540373443	chr6:29545385-29545386	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs115339611	chr6:29545418-29545419	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs532400197	chr6:29545440-29545441	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs144637271	chr6:29545473-29545474	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs34927823	chr6:29545494-29545495	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190572902	chr6:29545516-29545517	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs547822665	chr6:29545517-29545518	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs373948102	chr6:29545530-29545531	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs79392933	chr6:29545602-29545603	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs546961226	chr6:29545639-29545640	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs547145994	chr6:29545650-29545651	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs376839887	chr6:29545690-29545691	Weak transcription	n/a	n/a	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:14 , 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	chr6:29542200-29545200	Weak transcription	Spleen	Spleen
3	chr6:29543600-29544400	Enhancers	HUVEC	blood vessel
4	chr6:29545200-29545400	Enhancers	Spleen	Spleen
5	chr6:29545400-29545600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:29545400-29549800	Weak transcription	Spleen	Spleen
7	chr6:29546000-29546200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:29546000-29546600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:29546000-29546600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:29546200-29546400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:29546200-29569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:29549000-29549200	Enhancers	HMEC	breast
13	chr6:29553200-29553400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr6:29553200-29553600	Enhancers	Brain Hippocampus Middle	brain

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