Variant report

Variant	esv3333142
Chromosome Location	chr1:228504690-228505156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:228502402..228504085-chr1:228504567..228506934,2	K562	blood:
2	chr1:228502238..228506957-chr1:228507796..228512832,5	K562	blood:
3	chr1:228503766..228506759-chr1:228509327..228513259,3	K562	blood:
4	chr1:228499607..228502082-chr1:228504581..228506984,2	K562	blood:
5	chr1:228501491..228503449-chr1:228504540..228507781,3	MCF-7	breast:
6	chr1:228504356..228506678-chr1:228523750..228525517,2	K562	blood:
7	chr1:228504380..228506574-chr1:228512944..228514959,2	K562	blood:
8	chr1:228502247..228505195-chr1:228643946..228646656,2	K562	blood:
9	chr1:228496775..228499058-chr1:228500948..228504784,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196890	chromatin interactions
ENSG00000181218	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565158161	chr1:228504698-228504699	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149152748	chr1:228504700-228504701	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111792077	chr1:228504701-228504702	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371837128	chr1:228504702-228504703	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs71180790	chr1:228504703-228504704	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377513070	chr1:228504732-228504733	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569399508	chr1:228504733-228504734	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375219285	chr1:228504774-228504775	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572264970	chr1:228504775-228504776	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541395868	chr1:228504829-228504830	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561267051	chr1:228504850-228504851	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs1188731	chr1:228504857-228504858	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550336286	chr1:228504911-228504912	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34939958	chr1:228504925-228504926	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs10916299	chr1:228504932-228504933	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532770840	chr1:228504933-228504934	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs35801225	chr1:228504945-228504946	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs1188730	chr1:228504959-228504960	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566332383	chr1:228504975-228504976	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182939638	chr1:228505015-228505016	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186679578	chr1:228505033-228505034	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566970521	chr1:228505094-228505095	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371650531	chr1:228505123-228505124	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs377654546	chr1:228505124-228505125	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs370526673	chr1:228505135-228505136	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228490800-228506800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:228491600-228505800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
3	chr1:228497600-228507400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:228497600-228508400	Weak transcription	Psoas Muscle	Psoas
5	chr1:228498000-228505400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:228498200-228507000	Weak transcription	Fetal Kidney	kidney
7	chr1:228498600-228506800	Weak transcription	Fetal Heart	heart
8	chr1:228498800-228505000	Weak transcription	Brain Anterior Caudate	brain
9	chr1:228499000-228507400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:228499800-228506800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:228500000-228509400	Weak transcription	Right Atrium	heart
12	chr1:228500600-228505800	Weak transcription	Fetal Lung	lung
13	chr1:228500800-228504800	Weak transcription	Primary T cells from cord blood	blood
14	chr1:228500800-228504800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:228500800-228506200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:228500800-228506200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:228501000-228504800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:228501000-228507000	Weak transcription	Fetal Brain Male	brain
19	chr1:228501000-228507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:228501200-228505400	Weak transcription	Dnd41	blood
21	chr1:228501200-228506800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:228501200-228506800	Weak transcription	Ovary	ovary
23	chr1:228501200-228507000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:228501400-228506800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:228501600-228504800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:228502000-228505200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:228502000-228506800	Weak transcription	Esophagus	oesophagus
28	chr1:228502000-228507600	Strong transcription	Fetal Intestine Small	intestine
29	chr1:228502200-228506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:228502200-228507000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:228502200-228507000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:228502600-228506400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:228502800-228507200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:228502800-228507200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:228502800-228511200	Strong transcription	Fetal Stomach	stomach
36	chr1:228503000-228512800	Strong transcription	Right Ventricle	heart
37	chr1:228503200-228505000	Enhancers	Placenta	Placenta
38	chr1:228503200-228513000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:228503400-228512400	Strong transcription	Left Ventricle	heart
40	chr1:228503600-228505800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:228503600-228507000	Weak transcription	HSMMtube	muscle
42	chr1:228503600-228509200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:228503600-228511000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:228503600-228511200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:228503600-228511600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:228503600-228513000	Strong transcription	Thymus	Thymus
47	chr1:228503800-228505000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:228503800-228507400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:228503800-228510800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:228503800-228511400	Strong transcription	Fetal Brain Female	brain

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