Variant report

Variant	esv3339077
Chromosome Location	chr1:224392629-224393677
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224379393..224381215-chr1:224390955..224393182,2	K562	blood:
2	chr1:224392534..224394870-chr1:224515641..224518461,2	K562	blood:
3	chr1:224387475..224389159-chr1:224391292..224393986,3	MCF-7	breast:
4	chr1:224370663..224372600-chr1:224391702..224393896,2	K562	blood:
5	chr1:224391181..224392775-chr1:224402864..224405337,2	K562	blood:
6	chr1:224369572..224371706-chr1:224393451..224396309,2	MCF-7	breast:
7	chr1:224392784..224394708-chr20:49347702..49350093,2	MCF-7	breast:
8	chr1:224308298..224310827-chr1:224391255..224393377,2	K562	blood:
9	chr1:224391205..224393756-chr1:224397640..224399675,2	MCF-7	breast:
10	chr1:224391151..224394255-chr1:224397647..224399379,3	MCF-7	breast:
11	chr1:224374669..224377400-chr1:224391823..224393961,2	K562	blood:
12	chr1:224369479..224372718-chr1:224391156..224393202,3	K562	blood:
13	chr1:224392062..224394809-chr1:224425403..224428282,2	K562	blood:
14	chr1:224386204..224388936-chr1:224390782..224393478,2	K562	blood:
15	chr1:224390656..224393223-chr1:224397732..224400905,3	K562	blood:
16	chr1:224368986..224373517-chr1:224390991..224394171,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124171	chromatin interactions
ENSG00000143748	chromatin interactions
ENSG00000232628	chromatin interactions
ENSG00000143753	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556667597	chr1:224392656-224392657	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs149104892	chr1:224392657-224392658	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs546150803	chr1:224392673-224392674	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs182723805	chr1:224392740-224392741	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs187094306	chr1:224392790-224392791	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs540828340	chr1:224392803-224392804	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs562115890	chr1:224392811-224392812	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs149925368	chr1:224392835-224392836	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs139059350	chr1:224392836-224392837	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs141969347	chr1:224392837-224392838	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs111618279	chr1:224392871-224392872	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs183659331	chr1:224393134-224393135	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs2405303	chr1:224393160-224393161	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529353216	chr1:224393184-224393185	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs113406325	chr1:224393194-224393195	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs72755909	chr1:224393211-224393212	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9660147	chr1:224393253-224393254	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs58212261	chr1:224393335-224393336	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs372108867	chr1:224393342-224393343	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs35872528	chr1:224393343-224393344	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
21	rs398089910	chr1:224393346-224393347	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs72755912	chr1:224393371-224393372	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570313992	chr1:224393380-224393381	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs9661659	chr1:224393404-224393405	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs188936130	chr1:224393421-224393422	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs568179707	chr1:224393459-224393460	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs562434930	chr1:224393504-224393505	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs531230296	chr1:224393512-224393513	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs535178973	chr1:224393530-224393531	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs556938184	chr1:224393531-224393532	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs575095379	chr1:224393533-224393534	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs72755914	chr1:224393547-224393548	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72755915	chr1:224393599-224393600	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs77910234	chr1:224393629-224393630	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs540863459	chr1:224393631-224393632	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Congenital diaphragmatic hernia	21085971	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
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224381600-224393400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:224384000-224393200	Weak transcription	Small Intestine	intestine
3	chr1:224389600-224414400	Weak transcription	Fetal Brain Female	brain
4	chr1:224390600-224392800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:224390600-224393000	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:224390600-224393800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:224390600-224393800	Enhancers	Fetal Stomach	stomach
8	chr1:224390600-224394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:224390800-224393400	Enhancers	Brain Germinal Matrix	brain
10	chr1:224390800-224393600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:224390800-224393600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:224390800-224393600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:224390800-224393800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:224390800-224393800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:224390800-224393800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:224390800-224393800	Enhancers	Placenta	Placenta
17	chr1:224390800-224394000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:224391000-224394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:224391000-224394600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:224391400-224393200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:224391400-224393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:224391400-224393800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:224391600-224393400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:224391600-224394200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:224391600-224400000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:224391600-224400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:224391600-224407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:224391800-224393600	Enhancers	Left Ventricle	heart
29	chr1:224392000-224393000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr1:224392000-224393400	Enhancers	Fetal Brain Male	brain
31	chr1:224392000-224393600	Enhancers	Lung	lung
32	chr1:224392000-224393600	Flanking Active TSS	Dnd41	blood
33	chr1:224392000-224393800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:224392200-224392800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:224392200-224392800	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr1:224392200-224392800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:224392200-224392800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:224392200-224392800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:224392200-224393000	Enhancers	Fetal Kidney	kidney
40	chr1:224392200-224393000	Enhancers	Spleen	Spleen
41	chr1:224392200-224393400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:224392200-224393600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:224392200-224393600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:224392200-224393600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:224392200-224393600	Enhancers	Brain Hippocampus Middle	brain
46	chr1:224392200-224393800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:224392200-224393800	Enhancers	Fetal Thymus	thymus
48	chr1:224392200-224393800	Enhancers	HSMMtube	muscle
49	chr1:224392200-224394400	Enhancers	Fetal Intestine Small	intestine
50	chr1:224392200-224394400	Enhancers	Stomach Mucosa	stomach

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