Variant report

Variant	esv3394698
Chromosome Location	chr1:224392129-224394152
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	chr1:224390656..224393223-chr1:224397732..224400905,3	K562	blood:
3	chr1:224392534..224394870-chr1:224515641..224518461,2	K562	blood:
4	chr1:224370663..224372600-chr1:224391702..224393896,2	K562	blood:
5	chr1:224387475..224389159-chr1:224391292..224393986,3	MCF-7	breast:
6	chr1:224391181..224392775-chr1:224402864..224405337,2	K562	blood:
7	chr1:224391205..224393756-chr1:224397640..224399675,2	MCF-7	breast:
8	chr1:224392784..224394708-chr20:49347702..49350093,2	MCF-7	breast:
9	chr1:224392062..224394809-chr1:224425403..224428282,2	K562	blood:
10	chr1:224369572..224371706-chr1:224393451..224396309,2	MCF-7	breast:
11	chr1:224368986..224373517-chr1:224390991..224394171,5	MCF-7	breast:
12	chr1:224369479..224372718-chr1:224391156..224393202,3	K562	blood:
13	chr1:224386204..224388936-chr1:224390782..224393478,2	K562	blood:
14	chr1:224391151..224394255-chr1:224397647..224399379,3	MCF-7	breast:
15	chr1:224374669..224377400-chr1:224391823..224393961,2	K562	blood:
16	chr1:224308298..224310827-chr1:224391255..224393377,2	K562	blood:

No data

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

Extended variants
information (count: 69 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575561985	chr1:224392132-224392133	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs140310174	chr1:224392220-224392221	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550690072	chr1:224392247-224392248	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs71572890	chr1:224392256-224392257	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs398050130	chr1:224392265-224392266	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540777320	chr1:224392297-224392298	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186128841	chr1:224392305-224392306	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557972050	chr1:224392317-224392318	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558741121	chr1:224392339-224392340	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs78587976	chr1:224392350-224392351	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534422749	chr1:224392384-224392385	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545136333	chr1:224392393-224392394	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs79210026	chr1:224392402-224392403	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs75125249	chr1:224392404-224392405	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371369085	chr1:224392452-224392453	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189729586	chr1:224392470-224392471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146424562	chr1:224392615-224392616	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs371209145	chr1:224392617-224392618	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	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
20	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
21	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
22	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
23	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
24	rs540828340	chr1:224392803-224392804	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs562115890	chr1:224392811-224392812	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs149925368	chr1:224392835-224392836	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs139059350	chr1:224392836-224392837	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs141969347	chr1:224392837-224392838	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs111618279	chr1:224392871-224392872	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs183659331	chr1:224393134-224393135	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	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
32	rs529353216	chr1:224393184-224393185	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs113406325	chr1:224393194-224393195	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	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
35	rs9660147	chr1:224393253-224393254	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs58212261	chr1:224393335-224393336	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs372108867	chr1:224393342-224393343	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs35872528	chr1:224393343-224393344	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
39	rs398089910	chr1:224393346-224393347	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	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
41	rs570313992	chr1:224393380-224393381	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs9661659	chr1:224393404-224393405	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs188936130	chr1:224393421-224393422	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs568179707	chr1:224393459-224393460	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs562434930	chr1:224393504-224393505	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs531230296	chr1:224393512-224393513	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs535178973	chr1:224393530-224393531	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs556938184	chr1:224393531-224393532	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs575095379	chr1:224393533-224393534	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs72755914	chr1:224393547-224393548	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224372600-224392400	Weak transcription	Ovary	ovary
2	chr1:224372600-224392600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:224373200-224392400	Weak transcription	Colonic Mucosa	Colon
4	chr1:224373400-224392400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:224373400-224392400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:224373400-224392600	Weak transcription	Psoas Muscle	Psoas
7	chr1:224373600-224392400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:224373800-224392400	Weak transcription	Esophagus	oesophagus
9	chr1:224373800-224392400	Weak transcription	Fetal Heart	heart
10	chr1:224373800-224392400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:224374000-224392400	Weak transcription	Pancreas	Pancrea
12	chr1:224377400-224392400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:224377800-224392400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:224380400-224392400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:224381400-224392400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:224381400-224392400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:224381600-224392400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:224381600-224392400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:224381600-224392600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:224381600-224393400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:224381800-224392400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:224382000-224392400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:224382000-224392400	Weak transcription	Thymus	Thymus
24	chr1:224382200-224392200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:224382400-224392400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:224382400-224392400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:224382400-224392400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:224382400-224392400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:224383200-224392400	Weak transcription	Primary T cells from cord blood	blood
30	chr1:224383800-224392600	Weak transcription	Aorta	Aorta
31	chr1:224384000-224393200	Weak transcription	Small Intestine	intestine
32	chr1:224385200-224392400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:224388800-224392200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:224389400-224392400	Weak transcription	Gastric	stomach
35	chr1:224389600-224414400	Weak transcription	Fetal Brain Female	brain
36	chr1:224390200-224392200	Weak transcription	Fetal Intestine Small	intestine
37	chr1:224390400-224392400	Enhancers	Primary B cells from cord blood	blood
38	chr1:224390400-224392400	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:224390600-224392400	Enhancers	Adipose Nuclei	Adipose
40	chr1:224390600-224392400	Enhancers	Fetal Intestine Large	intestine
41	chr1:224390600-224392400	Enhancers	GM12878-XiMat	blood
42	chr1:224390600-224392800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:224390600-224393000	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:224390600-224393800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:224390600-224393800	Enhancers	Fetal Stomach	stomach
46	chr1:224390600-224394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:224390800-224392200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:224390800-224392200	Enhancers	NHDF-Ad	bronchial
49	chr1:224390800-224392400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:224390800-224392400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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