Variant report

Variant	esv3392363
Chromosome Location	chr6:24361673-24363821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:62)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr6:24361952-24362321	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr6:24361939-24362257	SH-SY5Y	brain:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:24362928-24362978	H1-hESC	embryonic stem cell:	embryo
2	chr6:24362928-24362978	H1-hESC	embryonic stem cell:	embryo
3	chr6:24362928-24362978	HUVEC	blood vessel:	n/a
4	chr6:24362928-24362978	HIPEpiC	eye:	n/a
5	chr6:24362928-24362978	GM19239	blood:	n/a
6	chr6:24362928-24362978	HEEpiC	esophagus:	n/a
7	chr6:24362928-24362978	PrEC	prostate:	n/a
8	chr6:24362928-24362978	T-47D	breast:	n/a
9	chr6:24362928-24362978	HRCEpiC	kidney:	n/a
10	chr6:24362928-24362978	CMK	blood:	n/a
11	chr6:24362928-24362978	RPTEC	kidney:	n/a
12	chr6:24362928-24362978	AG10803	skin:	n/a
13	chr6:24362928-24362978	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:24362928-24362978	HCPEpiC	choroid plexus:	n/a
15	chr6:24362928-24362978	HCF	heart:	n/a
16	chr6:24362928-24362978	SAEC	small airway:	n/a
17	chr6:24362928-24362978	GM12878	blood:	n/a
18	chr6:24362928-24362978	MCF-7	breast:	n/a
19	chr6:24362928-24362978	AG09309	skin:	n/a
20	chr6:24362928-24362978	ProgFib	skin:	n/a
21	chr6:24362928-24362978	BE2_C	brain:	n/a
22	chr6:24362928-24362978	GM12892	blood:	n/a
23	chr6:24362928-24362978	HepG2	liver:	n/a
24	chr6:24362928-24362978	HL-60	blood:	n/a
25	chr6:24362928-24362978	PANC-1	pancreas:	n/a
26	chr6:24362928-24362978	A549	lung:	n/a
27	chr6:24362928-24362978	PFSK-1	brain:	n/a
28	chr6:24362928-24362978	IMR90	lung:	fetal
29	chr6:24362928-24362978	NB4	blood:	n/a
30	chr6:24362928-24362978	GM12891	blood:	n/a
31	chr6:24362928-24362978	AG09319	gingival:	n/a
32	chr6:24362928-24362978	GM06990	blood:	n/a
33	chr6:24362928-24362978	AG04449	skin:	fetal
34	chr6:24362928-24362978	HCM	heart:	n/a
35	chr6:24362928-24362978	Hepatocyte	liver:	n/a
36	chr6:24362928-24362978	ovcar-3	ovarian:	n/a
37	chr6:24362928-24362978	HRPEpiC	eye:	n/a
38	chr6:24362928-24362978	Hela-S3	cervix:	n/a
39	chr6:24362928-24362978	HEK293	kidney:	embryo
40	chr6:24362928-24362978	NT2-D1	testis:	n/a
41	chr6:24362928-24362978	K562	blood:	n/a
42	chr6:24362928-24362978	NHDF-neo	bronchial:	n/a
43	chr6:24362928-24362978	MCF10A-Er-Src	breast:	n/a
44	chr6:24362928-24362978	BJ	skin:	n/a
45	chr6:24362928-24362978	SKMC	muscle:	n/a
46	chr6:24362928-24362978	HAEpiC	amniotic membrane:	n/a
47	chr6:24362928-24362978	Jurkat	blood:	n/a
48	chr6:24362928-24362978	Caco-2	colon:	n/a
49	chr6:24362928-24362978	HMEC	breast:	n/a
50	chr6:24362928-24362978	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24360427..24362179-chr6:24370310..24373267,2	MCF-7	breast:

No data

Variant related genes	Relation type
DCDC2	TF binding region
RNU6-391P	TF binding region
DCDC2	CpG island
RNU6-391P	CpG island

Extended variants
information (count: 113 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72833047	chr6:24361688-24361689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143909530	chr6:24361702-24361703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181439960	chr6:24361705-24361706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184883283	chr6:24361723-24361724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148164964	chr6:24361738-24361739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545846112	chr6:24361846-24361847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79425384	chr6:24361870-24361871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188962252	chr6:24361932-24361933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534806114	chr6:24361940-24361941	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs112848729	chr6:24362018-24362019	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs368774961	chr6:24362021-24362022	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs558023387	chr6:24362040-24362041	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs181397348	chr6:24362066-24362067	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs812093	chr6:24362076-24362077	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186332944	chr6:24362079-24362080	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs9358763	chr6:24362080-24362081	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542649650	chr6:24362098-24362099	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs190785817	chr6:24362111-24362112	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs547177254	chr6:24362117-24362118	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs573050098	chr6:24362121-24362122	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs79815339	chr6:24362137-24362138	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs562325584	chr6:24362159-24362160	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs182301665	chr6:24362160-24362161	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs112916697	chr6:24362173-24362174	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs531138985	chr6:24362203-24362204	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs7758878	chr6:24362204-24362205	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551032214	chr6:24362290-24362291	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs74695042	chr6:24362324-24362325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528861753	chr6:24362349-24362350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202218959	chr6:24362404-24362405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6922811	chr6:24362417-24362418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9295622	chr6:24362432-24362433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200480755	chr6:24362433-24362434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6900156	chr6:24362448-24362449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150057731	chr6:24362458-24362459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10657088	chr6:24362462-24362463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6900148	chr6:24362478-24362479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569287542	chr6:24362495-24362496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6922989	chr6:24362512-24362513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183212127	chr6:24362529-24362530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186991501	chr6:24362543-24362544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534663378	chr6:24362567-24362568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6900807	chr6:24362571-24362572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56905235	chr6:24362574-24362575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1742276	chr6:24362602-24362603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9348634	chr6:24362605-24362606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2792669	chr6:24362633-24362634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187973071	chr6:24362636-24362637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9295623	chr6:24362664-24362665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs6923317	chr6:24362667-24362668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24359000-24362800	Weak transcription	HepG2	liver
2	chr6:24360800-24363400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:24361000-24362000	Weak transcription	Fetal Kidney	kidney
4	chr6:24361600-24366200	Weak transcription	Fetal Intestine Small	intestine
5	chr6:24362200-24362400	Enhancers	Fetal Kidney	kidney
6	chr6:24362800-24363000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:24362800-24363400	Enhancers	HepG2	liver
8	chr6:24363400-24363600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:24363400-24376200	Weak transcription	HepG2	liver
10	chr6:24363600-24364200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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