Variant report

Variant	esv3472323
Chromosome Location	chr6:28190134-28190604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:28189822-28190209	K562	blood:	n/a	n/a
2	JUN	chr6:28190034-28190223	K562	blood:	n/a	n/a
3	JUND	chr6:28189530-28190289	K562	blood:	n/a	n/a
4	POLR2A	chr6:28189386-28190282	K562	blood:	n/a	n/a
5	ZNF384	chr6:28189996-28190324	K562	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28182735..28195387-chr6:28315960..28325841,32	K562	blood:
2	chr6:28186460..28191177-chr6:28246836..28252039,7	K562	blood:
3	chr6:28184931..28189194-chr6:28190077..28194573,12	MCF-7	breast:
4	chr6:27834531..27836106-chr6:28188635..28190287,2	K562	blood:
5	chr6:28188764..28191744-chr6:28301995..28304592,2	MCF-7	breast:
6	chr6:28127881..28130043-chr6:28189652..28192231,2	K562	blood:
7	chr6:28047206..28049069-chr6:28188430..28191262,2	K562	blood:
8	chr6:28135337..28137302-chr6:28186822..28190274,4	K562	blood:
9	chr6:28189695..28192033-chr6:28349571..28352462,4	K562	blood:
10	chr6:28153153..28155076-chr6:28188462..28190523,2	K562	blood:
11	chr6:28183629..28195178-chr6:28316250..28325659,29	K562	blood:
12	chr6:28130769..28134274-chr6:28187281..28190236,3	K562	blood:
13	chr6:28100317..28107200-chr6:28184436..28191088,8	MCF-7	breast:
14	chr6:28187110..28190886-chr6:28224658..28229038,5	K562	blood:
15	chr6:27834298..27836031-chr6:28187958..28190135,2	K562	blood:
16	chr6:27860430..27862717-chr6:28186992..28190210,3	K562	blood:
17	chr6:28114623..28117122-chr6:28187567..28190304,2	K562	blood:
18	chr6:28163458..28166230-chr6:28188324..28191413,3	K562	blood:
19	chr6:28184789..28191313-chr6:28230652..28235913,7	K562	blood:
20	chr6:28187353..28190192-chr6:28583076..28585455,2	K562	blood:
21	chr6:28102723..28113786-chr6:28183725..28194756,41	K562	blood:
22	chr6:28184981..28190782-chr6:28297491..28307222,23	K562	blood:
23	chr6:28188437..28190413-chr6:28337561..28339400,2	K562	blood:
24	chr6:28188391..28191172-chr6:28347437..28349201,2	K562	blood:
25	chr6:28108043..28113786-chr6:28190485..28194607,10	K562	blood:
26	chr6:28182366..28191375-chr6:28300021..28306741,17	K562	blood:
27	chr6:28188896..28191056-chr6:28251556..28253787,2	K562	blood:

No data

Variant related genes	Relation type
TOB2P1	TF binding region
ZSCAN9	TF binding region
ENSG00000184357	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000261839	chromatin interactions
ENSG00000232040	chromatin interactions
ENSG00000226314	chromatin interactions
ENSG00000187626	chromatin interactions
ENSG00000176933	chromatin interactions
ENSG00000235109	chromatin interactions
ENSG00000269293	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000197279	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000198315	chromatin interactions
ENSG00000197062	chromatin interactions
ENSG00000137338	chromatin interactions
ENSG00000189298	chromatin interactions
ENSG00000272009	chromatin interactions
ENSG00000189134	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12211332	chr6:28190163-28190164	Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs377406468	chr6:28190208-28190209	Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
3	rs371146238	chr6:28190209-28190210	Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
4	rs374652853	chr6:28190212-28190213	Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs12211438	chr6:28190247-28190248	Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs528624217	chr6:28190348-28190349	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs545311613	chr6:28190424-28190425	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs199592243	chr6:28190532-28190533	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs553090114	chr6:28190579-28190580	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs565412777	chr6:28190591-28190592	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Bipolar disorder	19114987	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28186600-28192400	Weak transcription	Spleen	Spleen
2	chr6:28187000-28192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:28187000-28192400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:28187200-28190800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:28187200-28192000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:28187200-28192000	Weak transcription	HMEC	breast
7	chr6:28187200-28192200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:28187400-28192000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:28187400-28192000	Weak transcription	Hela-S3	cervix
10	chr6:28188200-28191200	Weak transcription	Placenta	Placenta
11	chr6:28188600-28192400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:28188800-28192000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:28188800-28192000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:28189000-28190200	Enhancers	K562	blood
15	chr6:28190000-28190400	Weak transcription	NHEK	skin
16	chr6:28190000-28192400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:28190200-28192000	Weak transcription	K562	blood
18	chr6:28190400-28191000	Enhancers	NHEK	skin
19	chr6:28190600-28190800	Enhancers	HUVEC	blood vessel

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