Variant report

Variant	esv3427047
Chromosome Location	chr2:10900130-10906802
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	chr2:10859131..10862266-chr2:10901293..10904159,3	MCF-7	breast:
2	chr2:10893979..10896685-chr2:10898509..10901197,2	MCF-7	breast:
3	chr2:10905694..10908583-chr2:10912957..10914642,3	MCF-7	breast:
4	chr2:10902093..10904756-chr2:10950364..10952996,3	MCF-7	breast:
5	chr2:10875606..10877816-chr2:10902638..10905223,2	MCF-7	breast:
6	chr2:10897911..10900939-chr2:10902372..10905567,4	MCF-7	breast:
7	chr2:10897911..10900939-chr2:10902372..10905567,4	MCF-7	breast:
8	chr2:10897736..10899489-chr2:10899991..10901678,2	MCF-7	breast:
9	chr2:10829111..10831710-chr2:10897862..10901612,3	MCF-7	breast:
10	chr2:10905922..10908917-chr2:10914932..10916687,3	MCF-7	breast:
11	chr2:10899966..10902229-chr2:10910282..10913116,3	MCF-7	breast:
12	chr2:10902594..10905238-chr2:10911928..10914865,2	MCF-7	breast:
13	chr2:10897105..10899038-chr2:10904110..10905856,2	MCF-7	breast:
14	chr2:10900619..10902721-chr2:10906421..10908391,2	MCF-7	breast:
15	chr2:10905117..10907508-chr2:10909439..10912391,2	K562	blood:
16	chr2:10900619..10902721-chr2:10906421..10908391,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143870	chromatin interactions
ENSG00000143882	chromatin interactions
ENSG00000115761	chromatin interactions
ENSG00000272275	chromatin interactions
ENSG00000243819	chromatin interactions

Extended variants
information (count: 328 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185157284	chr2:10900134-10900135	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs55652408	chr2:10900149-10900150	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201415540	chr2:10900156-10900157	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs549655019	chr2:10900162-10900163	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552767500	chr2:10900163-10900164	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs397872990	chr2:10900168-10900169	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs397942832	chr2:10900170-10900171	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs10427186	chr2:10900171-10900172	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10427316	chr2:10900172-10900173	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs28491930	chr2:10900179-10900180	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570980538	chr2:10900185-10900186	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538401036	chr2:10900227-10900228	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562988659	chr2:10900230-10900231	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1198861	chr2:10900255-10900256	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574788980	chr2:10900261-10900262	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376919670	chr2:10900264-10900265	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554126923	chr2:10900269-10900270	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs372060587	chr2:10900277-10900278	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs572630174	chr2:10900294-10900295	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189864541	chr2:10900296-10900297	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112467871	chr2:10900326-10900327	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs1198862	chr2:10900327-10900328	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150491318	chr2:10900367-10900368	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs565603158	chr2:10900416-10900417	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183050868	chr2:10900449-10900450	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs1198863	chr2:10900475-10900476	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530008848	chr2:10900483-10900484	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs145455641	chr2:10900533-10900534	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560485356	chr2:10900535-10900536	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs186322227	chr2:10900575-10900576	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552408199	chr2:10900600-10900601	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570884889	chr2:10900609-10900610	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531815249	chr2:10900616-10900617	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549952061	chr2:10900629-10900630	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73914834	chr2:10900705-10900706	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535725459	chr2:10900718-10900719	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs191572775	chr2:10900741-10900742	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566144932	chr2:10900763-10900764	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs183348938	chr2:10900771-10900772	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs533739912	chr2:10900774-10900775	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs571857383	chr2:10900775-10900776	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537784969	chr2:10900799-10900800	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558369616	chr2:10900814-10900815	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187443230	chr2:10900834-10900835	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs573982188	chr2:10900838-10900839	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs544121757	chr2:10900879-10900880	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536213325	chr2:10900936-10900937	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs190746655	chr2:10900991-10900992	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs1198864	chr2:10900995-10900996	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs542168900	chr2:10901023-10901024	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10892600-10905400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:10896000-10902800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:10897400-10902400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:10897800-10906400	Enhancers	Placenta	Placenta
5	chr2:10898400-10902800	Weak transcription	Fetal Heart	heart
6	chr2:10898800-10901000	Weak transcription	Esophagus	oesophagus
7	chr2:10899000-10901000	Enhancers	Fetal Intestine Small	intestine
8	chr2:10899800-10900200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:10899800-10900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:10899800-10901200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:10899800-10901400	Weak transcription	HMEC	breast
12	chr2:10899800-10902800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:10899800-10905200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:10899800-10908200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:10900000-10902000	Bivalent Enhancer	HepG2	liver
16	chr2:10900000-10905000	Weak transcription	Fetal Intestine Large	intestine
17	chr2:10900000-10905400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:10900200-10900800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:10900600-10901600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:10901000-10902200	Enhancers	Esophagus	oesophagus
21	chr2:10901000-10903000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:10901200-10901400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:10901400-10902200	Enhancers	HMEC	breast
24	chr2:10901600-10902000	Enhancers	Hela-S3	cervix
25	chr2:10901600-10902600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:10901800-10902000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:10902000-10902800	Weak transcription	Hela-S3	cervix
28	chr2:10902200-10905400	Weak transcription	Esophagus	oesophagus
29	chr2:10902400-10902800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:10902600-10902800	Enhancers	K562	blood
31	chr2:10902600-10903000	Enhancers	Right Atrium	heart
32	chr2:10902600-10903000	Active TSS	Spleen	Spleen
33	chr2:10902600-10903400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:10902600-10903400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:10902800-10903000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:10902800-10903000	Active TSS	Hela-S3	cervix
37	chr2:10902800-10903200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:10902800-10903200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
39	chr2:10902800-10903200	Enhancers	A549	lung
40	chr2:10902800-10903200	Flanking Active TSS	K562	blood
41	chr2:10902800-10903200	Flanking Bivalent TSS/Enh	NHLF	lung
42	chr2:10902800-10903400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:10902800-10903400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:10902800-10903600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:10902800-10903600	Enhancers	Pancreas	Pancrea
46	chr2:10902800-10903600	Enhancers	Right Ventricle	heart
47	chr2:10902800-10903800	Enhancers	Fetal Heart	heart
48	chr2:10902800-10903800	Enhancers	Lung	lung
49	chr2:10902800-10903800	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr2:10902800-10904000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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