Variant report

Variant	esv2755724
Chromosome Location	chr2:10624654-10675549
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:77)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:10618429..10620949-chr2:10623572..10626287,3	K562	blood:
2	chr2:10586852..10590278-chr2:10623113..10626548,4	K562	blood:
3	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
4	chr2:10659273..10661362-chr2:10665519..10669758,4	K562	blood:
5	chr2:10630024..10631968-chr2:10641152..10643203,2	MCF-7	breast:
6	chr2:10638262..10640651-chr2:10646289..10648231,2	MCF-7	breast:
7	chr2:10642439..10644523-chr2:10645794..10649242,3	K562	blood:
8	chr2:10627903..10630300-chr2:10631307..10633904,2	MCF-7	breast:
9	chr2:10576627..10579490-chr2:10637993..10639882,2	K562	blood:
10	chr2:10629215..10631818-chr2:10634712..10637386,3	K562	blood:
11	chr2:10610764..10614840-chr2:10622811..10625780,3	MCF-7	breast:
12	chr2:10654305..10656431-chr2:10657961..10660518,3	K562	blood:
13	chr2:10642578..10644778-chr2:10652202..10654281,2	K562	blood:
14	chr2:10587092..10589525-chr2:10636667..10639799,3	MCF-7	breast:
15	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:
16	chr2:10627903..10630300-chr2:10631307..10633904,2	MCF-7	breast:
17	chr2:10598201..10598757-chr2:10630926..10631507,2	MCF-7	breast:
18	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
19	chr2:10588188..10589773-chr2:10645938..10648141,2	K562	blood:
20	chr2:10641809..10644723-chr2:10673184..10675074,2	K562	blood:
21	chr2:10650088..10652035-chr2:10662005..10663540,2	MCF-7	breast:
22	chr2:10587440..10589528-chr2:10671667..10675036,3	K562	blood:
23	chr2:10600545..10602902-chr2:10625810..10627729,2	MCF-7	breast:
24	chr2:10587024..10588852-chr2:10632688..10636203,3	MCF-7	breast:
25	chr2:10632460..10635197-chr2:10636856..10639931,3	MCF-7	breast:
26	chr2:10645039..10647150-chr2:10648824..10651474,2	K562	blood:
27	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:
28	chr2:10638007..10639817-chr2:10640176..10642997,2	MCF-7	breast:
29	chr2:10644733..10647834-chr2:10649580..10651474,4	K562	blood:
30	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
31	chr2:10587070..10589528-chr2:10671667..10675036,4	K562	blood:
32	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
33	chr2:10642439..10644523-chr2:10645794..10649242,3	K562	blood:
34	chr2:10613870..10615985-chr2:10625987..10627702,2	MCF-7	breast:
35	chr2:10645039..10647150-chr2:10648824..10651474,2	K562	blood:
36	chr2:10587936..10589560-chr2:10643216..10645286,2	K562	blood:
37	chr2:10642460..10644626-chr2:10645333..10647878,3	K562	blood:
38	chr2:10623404..10625143-chr2:10635856..10637493,2	MCF-7	breast:
39	chr2:10611237..10613247-chr2:10627785..10629806,2	K562	blood:
40	chr2:10610276..10612737-chr2:10628306..10630616,2	K562	blood:
41	chr2:10642460..10644626-chr2:10645333..10647878,3	K562	blood:
42	chr2:10651055..10653921-chr2:10663036..10664618,2	K562	blood:
43	chr2:10659707..10661854-chr2:10668258..10670855,2	K562	blood:
44	chr2:10660893..10663493-chr2:10697519..10700150,2	K562	blood:
45	chr2:10586137..10589617-chr2:10638319..10642599,4	K562	blood:
46	chr2:10591239..10594172-chr2:10636679..10638956,3	MCF-7	breast:
47	chr2:10587667..10590278-chr2:10623574..10626522,2	K562	blood:
48	chr2:10586849..10588529-chr2:10658757..10660570,2	K562	blood:
49	chr17:28049273..28050134-chr2:10654185..10655075,2	MCF-7	breast:
50	chr2:10630024..10631968-chr2:10641152..10643203,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115758	chromatin interactions
ENSG00000217258	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000257135	chromatin interactions

Extended variants
information (count: 2114 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2114 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1405949	chr2:10624654-10624655	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547228657	chr2:10624663-10624664	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs369261279	chr2:10624680-10624681	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs192848431	chr2:10624700-10624701	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs184440509	chr2:10624707-10624708	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs16856312	chr2:10624716-10624717	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576353452	chr2:10624719-10624720	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs143100297	chr2:10624756-10624757	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs188203658	chr2:10624781-10624782	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs375002072	chr2:10624785-10624786	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs192625655	chr2:10624860-10624861	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs146155476	chr2:10624893-10624894	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556118838	chr2:10624909-10624910	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs184879237	chr2:10624919-10624920	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs189280740	chr2:10624966-10624967	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs578229604	chr2:10625027-10625028	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs112273892	chr2:10625043-10625044	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs201213193	chr2:10625083-10625084	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs563860962	chr2:10625087-10625088	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs531311421	chr2:10625109-10625110	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs149463018	chr2:10625119-10625120	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs561810343	chr2:10625122-10625123	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs7340282	chr2:10625137-10625138	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs818176	chr2:10625156-10625157	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs818175	chr2:10625229-10625230	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs535554597	chr2:10625372-10625373	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs554242116	chr2:10625373-10625374	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs7340232	chr2:10625408-10625409	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371288486	chr2:10625443-10625444	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs200876657	chr2:10625454-10625455	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs143926016	chr2:10625501-10625502	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs186833085	chr2:10625520-10625521	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs537451271	chr2:10625521-10625522	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs555519472	chr2:10625546-10625547	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs567652916	chr2:10625594-10625595	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs371225521	chr2:10625623-10625624	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs6760641	chr2:10625690-10625691	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148645651	chr2:10625766-10625767	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs578205578	chr2:10625797-10625798	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs545642308	chr2:10625821-10625822	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs557627778	chr2:10625827-10625828	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs115076924	chr2:10625861-10625862	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs142164671	chr2:10625865-10625866	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs558161720	chr2:10625897-10625898	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs13429314	chr2:10625900-10625901	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189663032	chr2:10625916-10625917	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs540692850	chr2:10625925-10625926	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs62127125	chr2:10625942-10625943	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs147415984	chr2:10625951-10625952	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs377651013	chr2:10626001-10626002	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10619400-10636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10622600-10626800	Weak transcription	Pancreas	Pancrea
3	chr2:10623800-10626600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:10623800-10626600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:10626000-10627200	Enhancers	Fetal Thymus	thymus
6	chr2:10626400-10628000	Bivalent Enhancer	HepG2	liver
7	chr2:10626600-10626800	Bivalent Enhancer	A549	lung
8	chr2:10626600-10627000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:10626600-10627000	Enhancers	Colonic Mucosa	Colon
10	chr2:10626600-10627000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr2:10626600-10627200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:10626600-10627400	Bivalent Enhancer	Small Intestine	intestine
13	chr2:10626600-10627600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:10626600-10627600	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:10626600-10627600	Enhancers	Fetal Intestine Small	intestine
16	chr2:10626600-10627600	Enhancers	Gastric	stomach
17	chr2:10626600-10627800	Enhancers	Fetal Intestine Large	intestine
18	chr2:10626600-10627800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr2:10626600-10628000	Enhancers	Stomach Mucosa	stomach
20	chr2:10626800-10627000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:10626800-10627000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr2:10626800-10627000	Bivalent Enhancer	Hela-S3	cervix
23	chr2:10626800-10627200	Enhancers	A549	lung
24	chr2:10626800-10627800	Enhancers	Lung	lung
25	chr2:10626800-10627800	Enhancers	Pancreas	Pancrea
26	chr2:10627000-10627200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr2:10627000-10627400	Flanking Active TSS	Hela-S3	cervix
28	chr2:10627000-10629600	Weak transcription	Colonic Mucosa	Colon
29	chr2:10627000-10632800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:10627200-10627400	Flanking Active TSS	A549	lung
31	chr2:10627200-10631200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:10627400-10627800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:10627400-10627800	Enhancers	A549	lung
34	chr2:10627400-10627800	Enhancers	Hela-S3	cervix
35	chr2:10627600-10628000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr2:10627600-10628200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:10627600-10629800	Weak transcription	Fetal Intestine Small	intestine
38	chr2:10627800-10629800	Weak transcription	A549	lung
39	chr2:10627800-10630000	Weak transcription	Fetal Intestine Large	intestine
40	chr2:10627800-10630600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:10627800-10631000	Weak transcription	Lung	lung
42	chr2:10627800-10631200	Weak transcription	Pancreas	Pancrea
43	chr2:10627800-10633200	Weak transcription	Hela-S3	cervix
44	chr2:10629800-10630200	Enhancers	Osteobl	bone
45	chr2:10629800-10631000	Bivalent Enhancer	HepG2	liver
46	chr2:10629800-10631600	Enhancers	Stomach Mucosa	stomach
47	chr2:10629800-10631600	Enhancers	A549	lung
48	chr2:10629800-10631800	Enhancers	Fetal Intestine Small	intestine
49	chr2:10630000-10630200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:10630000-10630400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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