Variant report

Variant	esv3321126
Chromosome Location	chr1:213002278-213013753
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:
2	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:
3	chr1:212782138..212783676-chr1:213005899..213008453,2	K562	blood:
4	chr1:213001465..213003584-chr1:213040615..213043476,2	MCF-7	breast:
5	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:
6	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:
7	chr1:213002092..213003822-chr1:213040039..213042148,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162772	chromatin interactions

Extended variants
information (count: 274 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534156693	chr1:213002406-213002407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559186823	chr1:213002433-213002434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142401972	chr1:213002444-213002445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544154281	chr1:213002468-213002469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11120036	chr1:213002471-213002472	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs574533614	chr1:213002485-213002486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35936520	chr1:213002500-213002501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139776147	chr1:213002522-213002523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191176939	chr1:213002557-213002558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114492059	chr1:213002643-213002644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551824769	chr1:213002669-213002670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552104002	chr1:213002675-213002676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564375459	chr1:213002685-213002686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182589579	chr1:213002703-213002704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571686506	chr1:213002718-213002719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549753817	chr1:213002759-213002760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568051869	chr1:213002765-213002766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534162038	chr1:213002775-213002776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535489242	chr1:213002790-213002791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6681851	chr1:213002868-213002869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs532294940	chr1:213003016-213003017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534367880	chr1:213003026-213003027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186868590	chr1:213003089-213003090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12133124	chr1:213003111-213003112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs570770717	chr1:213003117-213003118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11120037	chr1:213003180-213003181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs12144168	chr1:213003197-213003198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75158316	chr1:213003203-213003204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149796512	chr1:213003220-213003221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555128761	chr1:213003282-213003283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541895559	chr1:213003290-213003291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10631608	chr1:213003307-213003308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs33977456	chr1:213003326-213003327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12133194	chr1:213003372-213003373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs572471444	chr1:213003375-213003376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545934868	chr1:213003399-213003400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12038225	chr1:213003428-213003429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs531574756	chr1:213003441-213003442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543736704	chr1:213003486-213003487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557596256	chr1:213003514-213003515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113916257	chr1:213003540-213003541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561990635	chr1:213003566-213003567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370601192	chr1:213003586-213003587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374295972	chr1:213003593-213003594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528878704	chr1:213003627-213003628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547092300	chr1:213003684-213003685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565723798	chr1:213003732-213003733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527722781	chr1:213003741-213003742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192120101	chr1:213003779-213003780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551495110	chr1:213003780-213003781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212999400-213009400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:212999800-213003600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212999800-213005000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:212999800-213005000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:213000400-213002800	Enhancers	Fetal Intestine Small	intestine
6	chr1:213000600-213002600	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:213000600-213002800	Enhancers	Fetal Intestine Large	intestine
8	chr1:213000800-213002400	Flanking Active TSS	HepG2	liver
9	chr1:213001000-213005800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:213001400-213004600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:213001400-213005800	Weak transcription	A549	lung
12	chr1:213001800-213008400	Weak transcription	Stomach Mucosa	stomach
13	chr1:213002200-213002600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:213002200-213006200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:213002400-213002800	Enhancers	HepG2	liver
16	chr1:213002600-213002800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:213002600-213006000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:213002800-213005800	Weak transcription	Fetal Intestine Small	intestine
19	chr1:213002800-213006000	Weak transcription	Fetal Intestine Large	intestine
20	chr1:213002800-213006000	Weak transcription	HepG2	liver
21	chr1:213002800-213006400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:213004600-213005000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:213004600-213005000	Enhancers	GM12878-XiMat	blood
24	chr1:213004600-213005400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:213004600-213005600	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:213004800-213005000	Enhancers	Primary B cells from cord blood	blood
27	chr1:213004800-213005200	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:213004800-213005800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:213005000-213005200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr1:213005000-213005200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:213005000-213005200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:213005000-213005200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:213005000-213005200	Enhancers	Adipose Nuclei	Adipose
34	chr1:213005000-213005400	Flanking Active TSS	GM12878-XiMat	blood
35	chr1:213005000-213005400	Enhancers	K562	blood
36	chr1:213005000-213005400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:213005200-213005400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr1:213005200-213005400	Enhancers	Primary B cells from cord blood	blood
39	chr1:213005200-213005600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:213005400-213005600	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr1:213005400-213005600	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr1:213005400-213005600	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:213005400-213006600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:213005400-213007800	Enhancers	GM12878-XiMat	blood
45	chr1:213005600-213006600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:213005800-213006600	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr1:213005800-213007400	Enhancers	A549	lung
48	chr1:213005800-213009800	Enhancers	Fetal Intestine Small	intestine
49	chr1:213006000-213006800	Enhancers	Duodenum Mucosa	Duodenum
50	chr1:213006000-213007000	Enhancers	HepG2	liver

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