Variant report

Variant	esv3333231
Chromosome Location	chr10:98375362-98379560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:98378896-98379223	K562	blood:	n/a	n/a
2	ATF1	chr10:98378820-98379344	K562	blood:	n/a	n/a
3	BHLHE40	chr10:98378738-98379314	K562	blood:	n/a	n/a
4	CBX3	chr10:98378778-98379283	K562	blood:	n/a	n/a
5	CBX3	chr10:98378874-98379243	K562	blood:	n/a	n/a
6	CCNT2	chr10:98378763-98379350	K562	blood:	n/a	n/a
7	CEBPB	chr10:98378386-98378733	HepG2	liver:	n/a	chr10:98378557-98378568 chr10:98378557-98378570 chr10:98378559-98378570 chr10:98378559-98378568
8	CEBPB	chr10:98378370-98378839	ECC-1	luminal epithelium:	n/a	chr10:98378557-98378568 chr10:98378557-98378570 chr10:98378559-98378570 chr10:98378559-98378568
9	CEBPB	chr10:98378382-98379184	K562	blood:	n/a	chr10:98378557-98378568 chr10:98378557-98378570 chr10:98378559-98378570 chr10:98378559-98378568
10	CEBPB	chr10:98378423-98378662	H1-hESC	embryonic stem cell:	n/a	chr10:98378557-98378568 chr10:98378557-98378570 chr10:98378559-98378570 chr10:98378559-98378568
11	CEBPB	chr10:98378814-98379320	K562	blood:	n/a	n/a
12	CEBPB	chr10:98378451-98378683	A549	lung:	n/a	chr10:98378557-98378568 chr10:98378557-98378570 chr10:98378559-98378570 chr10:98378559-98378568
13	CEBPB	chr10:98378414-98378662	IMR90	lung:	n/a	chr10:98378557-98378568 chr10:98378557-98378570 chr10:98378559-98378570 chr10:98378559-98378568
14	CEBPB	chr10:98378371-98378763	ECC-1	luminal epithelium:	n/a	chr10:98378557-98378568 chr10:98378557-98378570 chr10:98378559-98378570 chr10:98378559-98378568
15	CEBPD	chr10:98378763-98379421	K562	blood:	n/a	n/a
16	CEBPD	chr10:98378799-98379309	K562	blood:	n/a	n/a
17	CHD2	chr10:98378847-98379207	K562	blood:	n/a	n/a
18	CREB1	chr10:98378865-98379320	K562	blood:	n/a	n/a
19	CREB1	chr10:98378733-98379408	K562	blood:	n/a	n/a
20	CTCF	chr10:98378851-98379219	K562	blood:	n/a	n/a
21	CTCF	chr10:98378560-98378710	HRPEpiC	eye:	n/a	n/a
22	CUX1	chr10:98378763-98379461	K562	blood:	n/a	n/a
23	E2F6	chr10:98378916-98379207	K562	blood:	n/a	n/a
24	EGR1	chr10:98378978-98379141	K562	blood:	n/a	n/a
25	EGR1	chr10:98378858-98379238	K562	blood:	n/a	n/a
26	EP300	chr10:98378748-98379439	K562	blood:	n/a	chr10:98379382-98379396
27	EP300	chr10:98378885-98379203	K562	blood:	n/a	n/a
28	ETS1	chr10:98378941-98379185	K562	blood:	n/a	n/a
29	FOS	chr10:98379481-98379892	MCF10A-Er-Src	breast:	n/a	chr10:98379719-98379726 chr10:98379718-98379726 chr10:98379790-98379804
30	FOS	chr10:98378410-98378589	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr10:98379481-98379870	MCF10A-Er-Src	breast:	n/a	chr10:98379719-98379726 chr10:98379718-98379726 chr10:98379790-98379804
32	GABPA	chr10:98378900-98379294	K562	blood:	n/a	n/a
33	GABPA	chr10:98378819-98379252	K562	blood:	n/a	n/a
34	GATA1	chr10:98378377-98380060	PBDE	blood:	n/a	n/a
35	GATA1	chr10:98378572-98379649	K562	blood:	n/a	n/a
36	GATA1	chr10:98378866-98379298	PBDEFetal	blood:	n/a	n/a
37	GATA1	chr10:98378888-98379232	K562	blood:	n/a	n/a
38	GATA2	chr10:98378781-98379272	K562	blood:	n/a	n/a
39	GATA2	chr10:98378745-98379386	K562	blood:	n/a	n/a
40	GATA2	chr10:98378777-98379306	K562	blood:	n/a	n/a
41	GTF2F1	chr10:98378851-98378890	K562	blood:	n/a	n/a
42	HCFC1	chr10:98378845-98379324	K562	blood:	n/a	n/a
43	HDAC2	chr10:98378896-98379241	K562	blood:	n/a	n/a
44	HMGN3	chr10:98378866-98379331	K562	blood:	n/a	n/a
45	IRF1	chr10:98378852-98379298	K562	blood:	n/a	n/a
46	IRF1	chr10:98378827-98379401	K562	blood:	n/a	n/a
47	IRF1	chr10:98378806-98379649	K562	blood:	n/a	n/a
48	JUND	chr10:98378819-98379411	K562	blood:	n/a	n/a
49	MAFF	chr10:98378893-98379234	K562	blood:	n/a	n/a
50	MAFK	chr10:98378868-98379203	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:98345726..98350448-chr10:98373759..98376409,5	MCF-7	breast:
2	chr10:98367008..98370019-chr10:98371148..98375452,4	K562	blood:
3	chr10:98376679..98380080-chr10:98381155..98385346,4	MCF-7	breast:
4	chr10:98376151..98378929-chr10:98479647..98482597,2	K562	blood:
5	chr10:98346216..98350490-chr10:98369688..98376085,7	K562	blood:
6	chr10:98345541..98351057-chr10:98372487..98376675,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCOR-3	chr10:98376776-98377011	NONHSAT015825

Variant related genes	Relation type
PIK3AP1	TF binding region
RNA5SP324	TF binding region
ENSG00000155629	chromatin interactions
ENSG00000227032	chromatin interactions
ENSG00000077147	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531503141	chr10:98375403-98375404	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs543703565	chr10:98375415-98375416	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145913030	chr10:98375486-98375487	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs7100145	chr10:98375526-98375527	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547458255	chr10:98375537-98375538	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147853707	chr10:98375573-98375574	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191189438	chr10:98375603-98375604	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533502885	chr10:98375633-98375634	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551676331	chr10:98375644-98375645	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570279033	chr10:98375649-98375650	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141407462	chr10:98375666-98375667	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201437950	chr10:98375678-98375679	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs10719129	chr10:98375679-98375680	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs397845626	chr10:98375680-98375681	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549711097	chr10:98375777-98375778	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs568029111	chr10:98375781-98375782	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs727329	chr10:98375785-98375786	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs553835940	chr10:98375807-98375808	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs72818908	chr10:98375808-98375809	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539566243	chr10:98375833-98375834	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557620993	chr10:98375872-98375873	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576194398	chr10:98375921-98375922	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543318951	chr10:98375947-98375948	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561669630	chr10:98375948-98375949	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573627996	chr10:98375955-98375956	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369125934	chr10:98375981-98375982	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs78713983	chr10:98375990-98375991	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs114517161	chr10:98376014-98376015	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533265668	chr10:98376036-98376037	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549743954	chr10:98376048-98376049	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs563692458	chr10:98376061-98376062	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531153844	chr10:98376102-98376103	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375979099	chr10:98376124-98376125	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567942774	chr10:98376127-98376128	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs568519333	chr10:98376142-98376143	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs547412728	chr10:98376145-98376146	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565672645	chr10:98376161-98376162	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs539120830	chr10:98376173-98376174	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs557849877	chr10:98376186-98376187	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs576128687	chr10:98376244-98376245	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs371100549	chr10:98376273-98376274	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs555178124	chr10:98376287-98376288	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs368204909	chr10:98376348-98376349	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs372390119	chr10:98376349-98376350	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs184135533	chr10:98376363-98376364	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs41299167	chr10:98376471-98376472	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs149457335	chr10:98376608-98376609	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs188587186	chr10:98376629-98376630	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs545139607	chr10:98376653-98376654	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs563779400	chr10:98376678-98376679	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98350800-98395600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr10:98352400-98378600	Strong transcription	Liver	Liver
3	chr10:98352400-98399400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr10:98352600-98403000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:98353000-98388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:98353000-98403000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:98354600-98388600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:98357800-98382000	Strong transcription	GM12878-XiMat	blood
9	chr10:98360400-98392800	Weak transcription	Thymus	Thymus
10	chr10:98362200-98389200	Strong transcription	Primary B cells from cord blood	blood
11	chr10:98363800-98392600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:98366000-98388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:98366600-98392600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:98367200-98376200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:98367400-98376200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr10:98367400-98418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr10:98368800-98377800	Weak transcription	Brain Anterior Caudate	brain
18	chr10:98370600-98375800	Weak transcription	Ovary	ovary
19	chr10:98370800-98378600	Weak transcription	Brain Substantia Nigra	brain
20	chr10:98371000-98378800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr10:98371000-98382600	Strong transcription	Spleen	Spleen
22	chr10:98371000-98388600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr10:98371000-98389000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:98371800-98378600	Weak transcription	Colonic Mucosa	Colon
25	chr10:98372200-98377400	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:98372200-98388600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr10:98372400-98375400	Weak transcription	Adipose Nuclei	Adipose
28	chr10:98372600-98376000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr10:98373200-98375600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:98373400-98375400	Strong transcription	Pancreas	Pancrea
31	chr10:98373400-98378000	Enhancers	Right Ventricle	heart
32	chr10:98374000-98377200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr10:98374000-98377400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:98374000-98377600	Strong transcription	Placenta	Placenta
35	chr10:98374000-98378600	Weak transcription	Gastric	stomach
36	chr10:98374000-98378600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr10:98374000-98379000	Weak transcription	Lung	lung
38	chr10:98374200-98378400	Weak transcription	Fetal Intestine Large	intestine
39	chr10:98374400-98378600	Weak transcription	HepG2	liver
40	chr10:98374400-98390200	Weak transcription	Small Intestine	intestine
41	chr10:98374600-98376600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr10:98374800-98375400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:98374800-98377200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:98374800-98379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:98375000-98375600	Weak transcription	Left Ventricle	heart
46	chr10:98375000-98375600	Weak transcription	Stomach Mucosa	stomach
47	chr10:98375000-98376400	Weak transcription	Fetal Heart	heart
48	chr10:98375000-98377400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:98375000-98377400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr10:98375000-98377400	Weak transcription	K562	blood

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