Variant report

Variant	esv2315189
Chromosome Location	chr1:226071604-226071605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:226071508-226071960	K562	blood:	n/a	n/a
2	CTCF	chr1:226071540-226071690	GM06990	blood:	n/a	n/a
3	CTCF	chr1:226071430-226072178	HCT-116	colon:	n/a	n/a
4	POLR2A	chr1:226071519-226071885	HCT-116	colon:	n/a	n/a
5	POLR2A	chr1:226071502-226071921	HCT-116	colon:	n/a	n/a
6	RAD21	chr1:226071412-226072116	HCT-116	colon:	n/a	n/a
7	RAD21	chr1:226071414-226072105	HCT-116	colon:	n/a	n/a
8	YY1	chr1:226071544-226071916	HCT-116	colon:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225662424..225663252-chr1:226071421..226072025,2	MCF-7	breast:
2	chr1:225963541..225967644-chr1:226069236..226073918,5	MCF-7	breast:
3	chr1:226066440..226072029-chr1:226106315..226113044,10	MCF-7	breast:
4	chr1:226067470..226074101-chr1:226108823..226116408,13	MCF-7	breast:
5	chr1:226070563..226073306-chr1:226118336..226120549,2	K562	blood:
6	chr1:225660989..225663497-chr1:226070471..226072090,2	K562	blood:
7	chr1:226067837..226071624-chr1:226184531..226189088,6	K562	blood:
8	chr1:226069198..226071720-chr1:226149361..226151916,2	MCF-7	breast:
9	chr1:226054269..226057848-chr1:226069122..226072255,3	K562	blood:
10	chr1:226070971..226073106-chr1:226113461..226115401,2	MCF-7	breast:
11	chr1:226047047..226048850-chr1:226067848..226071913,3	MCF-7	breast:
12	chr1:226070080..226072229-chr1:226145455..226147029,2	K562	blood:
13	chr1:226070165..226072280-chr1:226086600..226088627,2	K562	blood:
14	chr1:226070192..226076477-chr1:226076711..226082534,9	K562	blood:
15	chr1:226068530..226073051-chr1:226075073..226079547,5	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM63A	TF binding region
ENSG00000143751	chromatin interactions
ENSG00000196187	chromatin interactions
ENSG00000143742	chromatin interactions
ENSG00000213032	chromatin interactions
ENSG00000243709	chromatin interactions
ENSG00000143811	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 91 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111647574	chr1:226071604-226071605	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226068600-226072000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:226069400-226071800	Active TSS	Rectal Smooth Muscle	rectum
3	chr1:226070800-226072000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:226071000-226071800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr1:226071000-226073800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:226071000-226074200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:226071000-226076200	Weak transcription	Small Intestine	intestine
8	chr1:226071000-226076400	Weak transcription	Spleen	Spleen
9	chr1:226071000-226078600	Weak transcription	Lung	lung
10	chr1:226071000-226083600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:226071200-226071800	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:226071200-226071800	Enhancers	Primary T cells from cord blood	blood
13	chr1:226071200-226071800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:226071200-226071800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:226071200-226071800	Enhancers	Brain Angular Gyrus	brain
16	chr1:226071200-226071800	Enhancers	Brain Substantia Nigra	brain
17	chr1:226071200-226071800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:226071200-226071800	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:226071200-226071800	Enhancers	Placenta	Placenta
20	chr1:226071200-226071800	Bivalent Enhancer	Fetal Thymus	thymus
21	chr1:226071200-226071800	Enhancers	Right Ventricle	heart
22	chr1:226071200-226071800	Enhancers	GM12878-XiMat	blood
23	chr1:226071200-226071800	Enhancers	K562	blood
24	chr1:226071200-226072000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:226071200-226072000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:226071200-226072000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:226071200-226072000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:226071200-226072000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:226071200-226072000	Enhancers	Liver	Liver
30	chr1:226071200-226072000	Enhancers	Brain Hippocampus Middle	brain
31	chr1:226071200-226072000	Enhancers	Fetal Intestine Large	intestine
32	chr1:226071200-226072000	Enhancers	Pancreas	Pancrea
33	chr1:226071200-226072000	Enhancers	Stomach Mucosa	stomach
34	chr1:226071200-226072800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:226071200-226073000	Weak transcription	Right Atrium	heart
36	chr1:226071200-226073000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:226071200-226073800	Weak transcription	Thymus	Thymus
38	chr1:226071200-226074600	Weak transcription	Fetal Lung	lung
39	chr1:226071200-226075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:226071200-226075400	Weak transcription	Ovary	ovary
41	chr1:226071200-226076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:226071200-226076200	Weak transcription	Fetal Kidney	kidney
43	chr1:226071200-226076200	Weak transcription	A549	lung
44	chr1:226071200-226078200	Weak transcription	Gastric	stomach
45	chr1:226071200-226078200	Weak transcription	HMEC	breast
46	chr1:226071400-226071800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr1:226071400-226071800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:226071400-226071800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:226071400-226071800	Enhancers	Left Ventricle	heart
50	chr1:226071400-226071800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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