Variant report

Variant	esv3516966
Chromosome Location	chr10:5888343-5894728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:182)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:182 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:5888296-5888348	HepG2	liver:	n/a	n/a
2	ATF2	chr10:5894122-5894884	GM12878	blood:	n/a	n/a
3	ATF2	chr10:5887991-5888533	GM12878	blood:	n/a	n/a
4	ATF2	chr10:5894153-5894810	GM12878	blood:	n/a	n/a
5	ATF2	chr10:5888079-5888517	GM12878	blood:	n/a	n/a
6	BATF	chr10:5888064-5888456	GM12878	blood:	n/a	n/a
7	BATF	chr10:5894178-5894732	GM12878	blood:	n/a	n/a
8	BATF	chr10:5888145-5888416	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:5894328-5894755	GM12878	blood:	n/a	n/a
10	BCL11A	chr10:5888070-5888508	GM12878	blood:	n/a	n/a
11	BCL11A	chr10:5894373-5894676	GM12878	blood:	n/a	n/a
12	BCL11A	chr10:5888140-5888401	GM12878	blood:	n/a	n/a
13	BCL3	chr10:5894308-5894826	GM12878	blood:	n/a	n/a
14	BCL3	chr10:5888086-5888466	GM12878	blood:	n/a	n/a
15	BCLAF1	chr10:5888041-5888445	GM12878	blood:	n/a	n/a
16	BCLAF1	chr10:5894146-5894742	GM12878	blood:	n/a	n/a
17	BCLAF1	chr10:5894072-5894846	GM12878	blood:	n/a	n/a
18	BHLHE40	chr10:5894215-5894830	GM12878	blood:	n/a	n/a
19	BHLHE40	chr10:5888110-5888526	GM12878	blood:	n/a	n/a
20	CEBPB	chr10:5888629-5888917	MCF-7	breast:	n/a	chr10:5888800-5888811
21	CEBPB	chr10:5888650-5888829	K562	blood:	n/a	chr10:5888800-5888811
22	CEBPB	chr10:5888660-5888839	IMR90	lung:	n/a	chr10:5888800-5888811
23	CEBPB	chr10:5894374-5894722	GM12878	blood:	n/a	n/a
24	CEBPB	chr10:5888623-5888905	K562	blood:	n/a	chr10:5888800-5888811
25	CEBPB	chr10:5888807-5888928	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr10:5894199-5894906	GM12878	blood:	n/a	n/a
27	CEBPB	chr10:5892445-5892700	HepG2	liver:	n/a	chr10:5892592-5892603
28	CEBPB	chr10:5888482-5888964	HepG2	liver:	n/a	chr10:5888800-5888811
29	CEBPB	chr10:5888759-5888958	A549	lung:	n/a	chr10:5888800-5888811
30	CEBPB	chr10:5892490-5892657	HepG2	liver:	n/a	chr10:5892592-5892603
31	CHD1	chr10:5888196-5888393	GM12878	blood:	n/a	n/a
32	CHD1	chr10:5894396-5894650	GM12878	blood:	n/a	n/a
33	CHD2	chr10:5894269-5894719	GM12878	blood:	n/a	n/a
34	CHD2	chr10:5888040-5888407	GM12878	blood:	n/a	n/a
35	CTCF	chr10:5889720-5889870	GM12871	blood:	n/a	n/a
36	CTCF	chr10:5894380-5894530	GM12867	blood:	n/a	n/a
37	CUX1	chr10:5888148-5888457	GM12878	blood:	n/a	n/a
38	CUX1	chr10:5894377-5894710	GM12878	blood:	n/a	n/a
39	CUX1	chr10:5888234-5888394	K562	blood:	n/a	n/a
40	EBF1	chr10:5894086-5894835	GM12878	blood:	n/a	n/a
41	EBF1	chr10:5894170-5894807	GM12878	blood:	n/a	n/a
42	EBF1	chr10:5894040-5894773	GM12878	blood:	n/a	n/a
43	EBF1	chr10:5888151-5888610	GM12878	blood:	n/a	n/a
44	EGR1	chr10:5894330-5894675	GM12878	blood:	n/a	chr10:5894525-5894539
45	EGR1	chr10:5894390-5894655	GM12878	blood:	n/a	chr10:5894525-5894539
46	ELF1	chr10:5894345-5894798	GM12878	blood:	n/a	n/a
47	ELF1	chr10:5894283-5894773	GM12878	blood:	n/a	n/a
48	EP300	chr10:5888159-5888445	GM12878	blood:	n/a	n/a
49	EP300	chr10:5894209-5894815	GM12878	blood:	n/a	n/a
50	EP300	chr10:5894296-5894698	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5854620..5857118-chr10:5886149..5888419,4	K562	blood:
2	chr10:5852473..5857853-chr10:5880942..5888645,8	MCF-7	breast:
3	chr10:5887234..5889271-chr10:5891738..5894895,3	K562	blood:
4	chr10:5854377..5856986-chr10:5893024..5895477,2	MCF-7	breast:
5	chr10:5835385..5837024-chr10:5893151..5895747,2	MCF-7	breast:
6	chr10:5889255..5891417-chr10:5903224..5906135,2	MCF-7	breast:
7	chr10:5886207..5890565-chr10:5893992..5897304,3	K562	blood:
8	chr10:5886207..5890565-chr10:5893992..5897304,3	K562	blood:
9	chr10:5853739..5856663-chr10:5888964..5891448,2	MCF-7	breast:
10	chr10:5887749..5890618-chr10:5895657..5897180,2	K562	blood:
11	chr10:5860095..5862542-chr10:5886681..5888594,2	MCF-7	breast:
12	chr10:5874179..5876350-chr10:5894206..5896113,2	K562	blood:
13	chr10:5872995..5874657-chr10:5893099..5894735,2	K562	blood:
14	chr10:5887234..5889271-chr10:5891738..5894895,3	K562	blood:

No data

Variant related genes	Relation type
GDI2	TF binding region
ENSG00000057608	chromatin interactions
ENSG00000240180	chromatin interactions
ENSG00000272764	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570473775	chr10:5888351-5888352	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs528157394	chr10:5888367-5888368	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs116782159	chr10:5888399-5888400	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs7897260	chr10:5888427-5888428	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568010152	chr10:5888520-5888521	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs535437854	chr10:5888563-5888564	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs571572932	chr10:5888575-5888576	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs137989892	chr10:5888594-5888595	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs547643841	chr10:5888609-5888610	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs567452179	chr10:5888619-5888620	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs142570032	chr10:5888622-5888623	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs182505030	chr10:5888643-5888644	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs554271878	chr10:5888666-5888667	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs150838256	chr10:5888702-5888703	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs549364303	chr10:5888742-5888743	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575784710	chr10:5888762-5888763	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs555961872	chr10:5888763-5888764	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs536656963	chr10:5888776-5888777	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs7907795	chr10:5888780-5888781	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7903875	chr10:5888785-5888786	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541580985	chr10:5888805-5888806	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs553277099	chr10:5888830-5888831	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs575007551	chr10:5888837-5888838	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs373764105	chr10:5888848-5888849	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7907914	chr10:5888876-5888877	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563809980	chr10:5888899-5888900	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs7908028	chr10:5888905-5888906	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546220998	chr10:5888910-5888911	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs565158222	chr10:5888924-5888925	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190520561	chr10:5888929-5888930	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs149559445	chr10:5888951-5888952	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs368805659	chr10:5888953-5888954	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs565714801	chr10:5888960-5888961	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs11255527	chr10:5888961-5888962	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573738836	chr10:5889000-5889001	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs140999016	chr10:5889008-5889009	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs7898059	chr10:5889038-5889039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536622223	chr10:5889041-5889042	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs10795590	chr10:5889086-5889087	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570462712	chr10:5889099-5889100	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs534987523	chr10:5889129-5889130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs553678150	chr10:5889171-5889172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369024694	chr10:5889191-5889192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574922943	chr10:5889216-5889217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs536062023	chr10:5889234-5889235	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557442719	chr10:5889276-5889277	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs35817877	chr10:5889302-5889303	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs575827987	chr10:5889334-5889335	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs562215407	chr10:5889392-5889393	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546184332	chr10:5889405-5889406	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5883200-5897000	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:5883400-5889000	Enhancers	Primary B cells from cord blood	blood
3	chr10:5886200-5889400	Enhancers	Placenta	Placenta
4	chr10:5886400-5888600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:5886600-5888400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:5887000-5888800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:5887000-5888800	Enhancers	Fetal Muscle Leg	muscle
8	chr10:5887000-5889400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:5887200-5888400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:5887200-5888400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr10:5887200-5888400	Weak transcription	NHEK	skin
12	chr10:5887200-5889000	Enhancers	GM12878-XiMat	blood
13	chr10:5887600-5888400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr10:5887600-5888800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:5887800-5888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:5888000-5888600	Enhancers	K562	blood
17	chr10:5888000-5888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:5888000-5888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:5888000-5888800	Enhancers	HUVEC	blood vessel
20	chr10:5888000-5888800	Enhancers	NHDF-Ad	bronchial
21	chr10:5888000-5889200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:5888200-5888400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:5888200-5888400	Active TSS	Hela-S3	cervix
24	chr10:5888200-5888600	Enhancers	Rectal Smooth Muscle	rectum
25	chr10:5888200-5888600	Flanking Active TSS	HepG2	liver
26	chr10:5888200-5888600	Enhancers	HMEC	breast
27	chr10:5888200-5888800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:5888200-5888800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr10:5888200-5888800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr10:5888200-5888800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:5888200-5888800	Enhancers	Adipose Nuclei	Adipose
32	chr10:5888200-5888800	Enhancers	Fetal Intestine Small	intestine
33	chr10:5888400-5888600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr10:5888400-5888600	Flanking Active TSS	Hela-S3	cervix
35	chr10:5888400-5888600	Enhancers	NHEK	skin
36	chr10:5888400-5889200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr10:5888400-5889200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr10:5888600-5888800	Enhancers	Hela-S3	cervix
39	chr10:5888600-5889200	Enhancers	HepG2	liver
40	chr10:5888600-5894200	Weak transcription	K562	blood
41	chr10:5888800-5889000	Enhancers	Fetal Muscle Trunk	muscle
42	chr10:5888800-5904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:5889000-5890200	Weak transcription	Primary B cells from cord blood	blood
44	chr10:5889000-5894000	Weak transcription	GM12878-XiMat	blood
45	chr10:5889200-5894200	Weak transcription	HepG2	liver
46	chr10:5889200-5900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr10:5889400-5902000	Weak transcription	Placenta	Placenta
48	chr10:5890200-5896600	Enhancers	Primary B cells from cord blood	blood
49	chr10:5892800-5893000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:5893600-5896400	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links