Variant report

Variant	esv3357281
Chromosome Location	chr1:228506179-228508677
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr1:228326503..228329334-chr1:228508216..228510829,2	K562	blood:
4	chr1:228507055..228508923-chr1:228510285..228512902,2	K562	blood:
5	chr1:228504356..228506678-chr1:228523750..228525517,2	K562	blood:
6	chr1:228499607..228502082-chr1:228504581..228506984,2	K562	blood:
7	chr1:228503766..228506759-chr1:228509327..228513259,3	K562	blood:
8	chr1:228504380..228506574-chr1:228512944..228514959,2	K562	blood:
9	chr1:228508449..228510015-chr1:228510089..228512047,2	MCF-7	breast:
10	chr1:228507239..228509490-chr1:228538942..228541133,2	MCF-7	breast:
11	chr1:228502238..228506957-chr1:228507796..228512832,5	K562	blood:
12	chr1:228501491..228503449-chr1:228504540..228507781,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143774	chromatin interactions
ENSG00000154358	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552023921	chr1:228506190-228506191	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs574713936	chr1:228506245-228506246	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs541340483	chr1:228506284-228506285	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543703456	chr1:228506289-228506290	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557321145	chr1:228506310-228506311	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577210005	chr1:228506322-228506323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111543164	chr1:228506356-228506357	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs539908068	chr1:228506375-228506376	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185408176	chr1:228506407-228506408	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs41315601	chr1:228506440-228506441	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368877604	chr1:228506473-228506474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs561947769	chr1:228506493-228506494	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs189986750	chr1:228506517-228506518	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544616958	chr1:228506547-228506548	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145711728	chr1:228506574-228506575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs41305126	chr1:228506661-228506662	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373067353	chr1:228506677-228506678	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs570545660	chr1:228506686-228506687	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200354373	chr1:228506687-228506688	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373985115	chr1:228506695-228506696	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377346099	chr1:228506696-228506697	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs369347698	chr1:228506704-228506705	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372921390	chr1:228506715-228506716	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs559458574	chr1:228506721-228506722	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs377370357	chr1:228506730-228506731	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs369823285	chr1:228506752-228506753	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs181568906	chr1:228506756-228506757	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186194072	chr1:228506761-228506762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs376545906	chr1:228506762-228506763	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs142983293	chr1:228506768-228506769	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs374168961	chr1:228506781-228506782	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs368406721	chr1:228506796-228506797	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372007801	chr1:228506816-228506817	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs374085426	chr1:228506817-228506818	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537345164	chr1:228506833-228506834	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559564079	chr1:228506880-228506881	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs367669699	chr1:228506881-228506882	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570805670	chr1:228506882-228506883	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs539415084	chr1:228506884-228506885	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs371831861	chr1:228506901-228506902	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188302055	chr1:228506912-228506913	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs180768209	chr1:228506936-228506937	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548270248	chr1:228506959-228506960	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532773421	chr1:228506961-228506962	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs369777455	chr1:228506962-228506963	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs185247770	chr1:228506963-228506964	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs147741962	chr1:228506965-228506966	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs372796493	chr1:228506966-228506967	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111916885	chr1:228506967-228506968	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs61825306	chr1:228506970-228506971	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	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:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228490800-228506800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:228497600-228507400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:228497600-228508400	Weak transcription	Psoas Muscle	Psoas
4	chr1:228498200-228507000	Weak transcription	Fetal Kidney	kidney
5	chr1:228498600-228506800	Weak transcription	Fetal Heart	heart
6	chr1:228499000-228507400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:228499800-228506800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:228500000-228509400	Weak transcription	Right Atrium	heart
9	chr1:228500800-228506200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:228500800-228506200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:228501000-228507000	Weak transcription	Fetal Brain Male	brain
12	chr1:228501000-228507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:228501200-228506800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:228501200-228506800	Weak transcription	Ovary	ovary
15	chr1:228501200-228507000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:228501400-228506800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:228502000-228506800	Weak transcription	Esophagus	oesophagus
18	chr1:228502000-228507600	Strong transcription	Fetal Intestine Small	intestine
19	chr1:228502200-228506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:228502200-228507000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:228502200-228507000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:228502600-228506400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:228502800-228507200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:228502800-228507200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:228502800-228511200	Strong transcription	Fetal Stomach	stomach
26	chr1:228503000-228512800	Strong transcription	Right Ventricle	heart
27	chr1:228503200-228513000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:228503400-228512400	Strong transcription	Left Ventricle	heart
29	chr1:228503600-228507000	Weak transcription	HSMMtube	muscle
30	chr1:228503600-228509200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:228503600-228511000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:228503600-228511200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:228503600-228511600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:228503600-228513000	Strong transcription	Thymus	Thymus
35	chr1:228503800-228507400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:228503800-228510800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:228503800-228511400	Strong transcription	Fetal Brain Female	brain
38	chr1:228504000-228509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:228504000-228511600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:228504000-228513000	Strong transcription	Brain Germinal Matrix	brain
41	chr1:228504200-228508600	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:228504400-228512800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:228504400-228529600	Weak transcription	Colonic Mucosa	Colon
44	chr1:228504600-228506600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:228504600-228506800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:228504600-228507000	Weak transcription	Adipose Nuclei	Adipose
47	chr1:228504600-228507200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr1:228504600-228511800	Strong transcription	Spleen	Spleen
49	chr1:228504600-228513000	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr1:228504800-228507200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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