Variant report

Variant	esv1823035
Chromosome Location	chr6:27283254-27289249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
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	BHLHE40	chr6:27285617-27285993	K562	blood:	n/a	n/a
2	BHLHE40	chr6:27286829-27287040	K562	blood:	n/a	n/a
3	CEBPB	chr6:27287364-27287556	K562	blood:	n/a	n/a
4	GTF2B	chr6:27286739-27287042	K562	blood:	n/a	n/a
5	GTF2F1	chr6:27285701-27285743	K562	blood:	n/a	n/a
6	GTF2F1	chr6:27286939-27286948	H1-hESC	embryonic stem cell:	n/a	n/a
7	HEY1	chr6:27286713-27287207	K562	blood:	n/a	n/a
8	HEY1	chr6:27286775-27287115	K562	blood:	n/a	n/a
9	JUN	chr6:27285393-27285543	K562	blood:	n/a	n/a
10	MAFF	chr6:27286805-27287029	K562	blood:	n/a	n/a
11	MAFK	chr6:27286831-27287006	K562	blood:	n/a	n/a
12	MAX	chr6:27285564-27285844	K562	blood:	n/a	n/a
13	MAZ	chr6:27285793-27285851	K562	blood:	n/a	n/a
14	PML	chr6:27286741-27287183	K562	blood:	n/a	n/a
15	POLR2A	chr6:27286816-27286827	K562	blood:	n/a	n/a
16	POLR2A	chr6:27286839-27287154	K562	blood:	n/a	n/a
17	POLR2A	chr6:27286712-27287246	K562	blood:	n/a	n/a
18	POLR2A	chr6:27286805-27287092	K562	blood:	n/a	n/a
19	POLR2A	chr6:27286762-27287263	K562	blood:	n/a	n/a
20	POLR2A	chr6:27286850-27286979	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr6:27286775-27287066	K562	blood:	n/a	n/a
22	STAT3	chr6:27283612-27283855	MCF10A-Er-Src	breast:	n/a	n/a
23	TAF7	chr6:27286691-27287158	K562	blood:	n/a	n/a
24	TAF7	chr6:27286833-27287047	K562	blood:	n/a	n/a
25	TAF7	chr6:27286708-27287160	H1-hESC	embryonic stem cell:	n/a	n/a
26	TEAD4	chr6:27286664-27287212	K562	blood:	n/a	n/a
27	ZMIZ1	chr6:27286833-27287131	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27280638..27284776-chr6:27284821..27286984,4	K562	blood:
2	chr6:27275752..27278982-chr6:27286043..27289546,5	K562	blood:
3	chr6:27273565..27277461-chr6:27284741..27287387,3	K562	blood:
4	chr6:27283617..27285122-chr6:27291968..27294093,2	K562	blood:
5	chr6:27285675..27289188-chr6:27290325..27293992,4	K562	blood:
6	chr6:27267639..27271310-chr6:27281448..27285145,3	K562	blood:
7	chr6:27280638..27284776-chr6:27284821..27286984,4	K562	blood:
8	chr6:27274897..27277280-chr6:27287686..27289546,3	K562	blood:
9	chr6:27283136..27284776-chr6:27284821..27286348,2	K562	blood:
10	chr6:27283136..27284776-chr6:27284821..27286348,2	K562	blood:
11	chr6:27283444..27285555-chr6:27322877..27325059,2	K562	blood:
12	chr6:27280993..27282944-chr6:27286928..27288455,2	K562	blood:
13	chr6:27283533..27286469-chr6:27424537..27427357,2	K562	blood:

No data

Variant related genes	Relation type
POM121L2	TF binding region
VN1R10P	TF binding region
ENSG00000220758	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2893910	chr6:27283254-27283255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2893911	chr6:27283303-27283304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs565618424	chr6:27283308-27283309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532852001	chr6:27283326-27283327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73738749	chr6:27283415-27283416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537178148	chr6:27283485-27283486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142731448	chr6:27283515-27283516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150593891	chr6:27283524-27283525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542959137	chr6:27283674-27283675	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561842210	chr6:27283685-27283686	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572267472	chr6:27283726-27283727	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs139609213	chr6:27283837-27283838	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564300939	chr6:27283838-27283839	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs75383980	chr6:27283866-27283867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34343759	chr6:27283881-27283882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549941409	chr6:27283940-27283941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550878494	chr6:27283958-27283959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182918064	chr6:27284067-27284068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs116453860	chr6:27284083-27284084	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371243597	chr6:27284098-27284099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143381581	chr6:27284148-27284149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566259161	chr6:27284167-27284168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146714304	chr6:27284177-27284178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs34394775	chr6:27284260-27284261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374518262	chr6:27284262-27284263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533266424	chr6:27284351-27284352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371723138	chr6:27284357-27284358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111698598	chr6:27284484-27284485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371869938	chr6:27284512-27284513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186885827	chr6:27284550-27284551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73390697	chr6:27284555-27284556	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529590597	chr6:27284637-27284638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557035995	chr6:27284712-27284713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574036074	chr6:27284721-27284722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536263642	chr6:27284727-27284728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75941492	chr6:27284775-27284776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573133400	chr6:27284806-27284807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140311104	chr6:27284828-27284829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564362134	chr6:27284893-27284894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75270315	chr6:27284901-27284902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577957410	chr6:27284930-27284931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559661354	chr6:27285019-27285020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191778566	chr6:27285061-27285062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563248552	chr6:27285083-27285084	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528948900	chr6:27285084-27285085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144040669	chr6:27285153-27285154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185005544	chr6:27285155-27285156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144907996	chr6:27285157-27285158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149028861	chr6:27285177-27285178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571559974	chr6:27285202-27285203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	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
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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27281000-27286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:27285600-27286200	Enhancers	K562	blood
3	chr6:27285800-27286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:27285800-27286000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:27285800-27286000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:27286200-27286800	Weak transcription	K562	blood
7	chr6:27286800-27287000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:27286800-27287000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:27286800-27287000	Enhancers	K562	blood

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