Variant report

Variant	esv1817165
Chromosome Location	chr10:929133-944641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:183)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:941019-941108	Fibrobl	skin:	n/a	n/a
2	CTCF	chr10:939620-939770	HepG2	liver:	n/a	n/a
3	CTCF	chr10:931040-931190	HA-sp	spinal cord:	n/a	n/a
4	CUX1	chr10:936345-936378	GM12878	blood:	n/a	n/a
5	EP300	chr10:936224-936459	K562	blood:	n/a	n/a
6	EP300	chr10:941301-941643	T-47D	breast:	n/a	n/a
7	EP300	chr10:937549-937621	K562	blood:	n/a	n/a
8	FOXA1	chr10:941296-941615	T-47D	breast:	n/a	n/a
9	FOXA1	chr10:941236-941647	T-47D	breast:	n/a	n/a
10	GATA3	chr10:941299-941617	T-47D	breast:	n/a	n/a
11	GATA3	chr10:941142-941701	MCF-7	breast:	n/a	n/a
12	GATA3	chr10:944187-944288	SH-SY5Y	brain:	n/a	n/a
13	HDAC2	chr10:941328-941659	MCF-7	breast:	n/a	chr10:941328-941342
14	IRF1	chr10:930558-930566	K562	blood:	n/a	n/a
15	IRF1	chr10:931835-932563	K562	blood:	n/a	n/a
16	MAFK	chr10:932530-932535	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr10:941196-941633	MCF-7	breast:	n/a	n/a
18	MAX	chr10:941263-941600	MCF-7	breast:	n/a	n/a
19	MAZ	chr10:939941-940067	HepG2	liver:	n/a	n/a
20	MYC	chr10:941409-941453	MCF-7	breast:	n/a	n/a
21	MYC	chr10:941375-941474	MCF-7	breast:	n/a	n/a
22	MYC	chr10:935301-935368	MCF-7	breast:	n/a	n/a
23	NFYA	chr10:939322-939518	GM12878	blood:	n/a	n/a
24	POLR2A	chr10:940850-941017	HepG2	liver:	n/a	n/a
25	POLR2A	chr10:932530-932542	MCF-7	breast:	n/a	n/a
26	POLR2A	chr10:935326-935376	A549	lung:	n/a	n/a
27	POLR2A	chr10:939346-939406	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr10:933821-934008	MCF-7	breast:	n/a	n/a
29	POLR2A	chr10:938063-938135	MCF-7	breast:	n/a	n/a
30	POLR2A	chr10:939287-940172	K562	blood:	n/a	n/a
31	POLR2A	chr10:932832-932918	HepG2	liver:	n/a	n/a
32	POLR2A	chr10:939339-939553	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:935378-935383	A549	lung:	n/a	n/a
34	POLR2A	chr10:939610-939659	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr10:934774-934792	MCF-7	breast:	n/a	n/a
36	POLR2A	chr10:938157-938165	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr10:942266-943935	K562	blood:	n/a	n/a
38	POLR2A	chr10:940268-940374	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr10:941362-941572	MCF-7	breast:	n/a	n/a
40	POLR2A	chr10:935245-935457	MCF-7	breast:	n/a	n/a
41	POLR2A	chr10:930219-930221	MCF-7	breast:	n/a	n/a
42	POLR2A	chr10:940873-940932	MCF-7	breast:	n/a	n/a
43	POLR2A	chr10:940647-940835	K562	blood:	n/a	n/a
44	POLR2A	chr10:939625-939642	MCF-7	breast:	n/a	n/a
45	POLR2A	chr10:943223-943660	K562	blood:	n/a	n/a
46	POLR2A	chr10:935338-935381	ProgFib	skin:	n/a	n/a
47	POLR2A	chr10:939648-939848	MCF-7	breast:	n/a	n/a
48	POLR2A	chr10:934759-934760	MCF-7	breast:	n/a	n/a
49	POLR2A	chr10:930169-930201	MCF-7	breast:	n/a	n/a
50	POLR2A	chr10:943766-943866	ProgFib	skin:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:931793-931843	IMR90	lung:	fetal
2	chr10:931793-931843	HUVEC	blood vessel:	n/a
3	chr10:931793-931843	NHDF-neo	bronchial:	n/a
4	chr10:931643-931693	HAEpiC	amniotic membrane:	n/a
5	chr10:931643-931693	HRE	kidney:	n/a
6	chr10:931793-931843	GM12892	blood:	n/a
7	chr10:931643-931693	Hepatocyte	liver:	n/a
8	chr10:931793-931843	SK-N-SH	brain:	n/a
9	chr10:932596-932646	AoSMC	blood vessel:	n/a
10	chr10:931643-931693	IMR90	lung:	fetal
11	chr10:931643-931693	BE2_C	brain:	n/a
12	chr10:931793-931843	MCF-7	breast:	n/a
13	chr10:932596-932646	HepG2	liver:	n/a
14	chr10:932596-932646	SK-N-SH_RA	brain:	n/a
15	chr10:932596-932646	SKMC	muscle:	n/a
16	chr10:932596-932646	HCPEpiC	choroid plexus:	n/a
17	chr10:931643-931693	H1-hESC	embryonic stem cell:	embryo
18	chr10:931793-931843	Caco-2	colon:	n/a
19	chr10:931643-931693	ProgFib	skin:	n/a
20	chr10:931643-931693	GM06990	blood:	n/a
21	chr10:931643-931693	U87	brain:	n/a
22	chr10:931793-931843	HNPCEpiC	eye:	n/a
23	chr10:932596-932646	HRCEpiC	kidney:	n/a
24	chr10:931793-931843	GM12891	blood:	n/a
25	chr10:932596-932646	PANC-1	pancreas:	n/a
26	chr10:931793-931843	Jurkat	blood:	n/a
27	chr10:931643-931693	NT2-D1	testis:	n/a
28	chr10:931643-931693	HCF	heart:	n/a
29	chr10:932596-932646	HIPEpiC	eye:	n/a
30	chr10:931793-931843	NHBE	bronchial:	n/a
31	chr10:932596-932646	BJ	skin:	n/a
32	chr10:931793-931843	SK-N-MC	brain:	n/a
33	chr10:931643-931693	K562	blood:	n/a
34	chr10:931793-931843	AG04449	skin:	fetal
35	chr10:932596-932646	MCF10A-Er-Src	breast:	n/a
36	chr10:931643-931693	CMK	blood:	n/a
37	chr10:931793-931843	SK-N-SH_RA	brain:	n/a
38	chr10:932596-932646	ProgFib	skin:	n/a
39	chr10:932596-932646	HCF	heart:	n/a
40	chr10:931793-931843	HMEC	breast:	n/a
41	chr10:932596-932646	HNPCEpiC	eye:	n/a
42	chr10:931643-931693	HEEpiC	esophagus:	n/a
43	chr10:932596-932646	Caco-2	colon:	n/a
44	chr10:931793-931843	HL-60	blood:	n/a
45	chr10:931793-931843	AG09319	gingival:	n/a
46	chr10:932596-932646	Jurkat	blood:	n/a
47	chr10:931793-931843	HEK293	kidney:	embryo
48	chr10:931643-931693	HRCEpiC	kidney:	n/a
49	chr10:931643-931693	HepG2	liver:	n/a
50	chr10:931643-931693	A549	lung:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:942466..944024-chr10:1101095..1103951,2	MCF-7	breast:
2	chr10:938406..941783-chr10:1093778..1095746,3	MCF-7	breast:
3	chr10:921829..924163-chr10:935534..937839,2	MCF-7	breast:
4	chr10:936128..938846-chr10:942658..944551,2	K562	blood:
5	chr10:925314..927057-chr10:940940..942518,2	MCF-7	breast:
6	chr10:936128..938846-chr10:942658..944551,2	K562	blood:
7	chr10:936631..938769-chr10:975701..977972,2	K562	blood:
8	chr10:937223..939736-chr10:940520..942175,2	K562	blood:
9	chr10:937223..939736-chr10:940520..942175,2	K562	blood:
10	chr10:926864..929583-chr10:930113..932754,2	MCF-7	breast:
11	chr10:935319..941897-chr10:946924..952545,8	K562	blood:
12	chr10:942466..944301-chr10:947752..949703,2	K562	blood:
13	chr10:941309..944109-chr10:975818..977931,2	K562	blood:
14	chr10:903990..906276-chr10:933287..935164,2	K562	blood:
15	chr10:942666..945104-chr10:1034510..1036393,2	MCF-7	breast:
16	chr10:924774..927126-chr10:932557..935160,2	K562	blood:
17	chr10:942466..945126-chr10:947752..949866,3	K562	blood:

No data

Variant related genes	Relation type
LARP4B	TF binding region
LARP4B	CpG island
ENSG00000047056	chromatin interactions
ENSG00000107937	chromatin interactions
ENSG00000067064	chromatin interactions
ENSG00000107929	chromatin interactions

Extended variants
information (count: 596 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12254002	chr10:929133-929134	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535285918	chr10:929145-929146	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555167783	chr10:929218-929219	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575441214	chr10:929236-929237	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533152728	chr10:929307-929308	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543450747	chr10:929328-929329	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540770677	chr10:929344-929345	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564025769	chr10:929369-929370	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181706680	chr10:929382-929383	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543012426	chr10:929392-929393	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564026288	chr10:929425-929426	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540980651	chr10:929428-929429	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113914941	chr10:929439-929440	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543320924	chr10:929496-929497	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143272672	chr10:929503-929504	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116546445	chr10:929509-929510	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12264711	chr10:929525-929526	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146226623	chr10:929586-929587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530947541	chr10:929594-929595	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550669947	chr10:929595-929596	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139141166	chr10:929603-929604	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535397151	chr10:929610-929611	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149939639	chr10:929697-929698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201426995	chr10:929714-929715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75407169	chr10:929715-929716	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534473726	chr10:929722-929723	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199585420	chr10:929724-929725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs66943509	chr10:929725-929726	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61830930	chr10:929727-929728	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187218450	chr10:929728-929729	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78191109	chr10:929735-929736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577632202	chr10:929760-929761	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543428805	chr10:929774-929775	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528320678	chr10:929775-929776	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370748038	chr10:929776-929777	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556710622	chr10:929782-929783	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199960816	chr10:929783-929784	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573670438	chr10:929892-929893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543389527	chr10:929894-929895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372659217	chr10:930114-930115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560040556	chr10:930115-930116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73584591	chr10:930162-930163	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372046131	chr10:930163-930164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545235488	chr10:930186-930187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565399237	chr10:930187-930188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370748456	chr10:930188-930189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186665013	chr10:930204-930205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530934864	chr10:930207-930208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113912382	chr10:930209-930210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375612590	chr10:930215-930216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Acute lymphoblastic leukemia	20724749	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:852200-956400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:870600-959400	Weak transcription	Stomach Mucosa	stomach
3	chr10:897200-929600	Strong transcription	Primary T cells from cord blood	blood
4	chr10:899000-932000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:899800-931200	Strong transcription	Primary B cells from cord blood	blood
6	chr10:901000-932000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:902000-933200	Strong transcription	Dnd41	blood
8	chr10:903200-931800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:903600-931800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:905000-931600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:905200-931600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr10:908200-932600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:910200-945800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:914600-931800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr10:914600-933000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:915200-931800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr10:915400-932000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:915800-931800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:916000-931800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:916000-931800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:916000-931800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr10:916200-930600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr10:916200-931600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr10:916200-931600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:916200-931800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:916600-931800	Strong transcription	Placenta	Placenta
27	chr10:917400-931800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:919400-931800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr10:920000-929800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:920200-931800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr10:920800-929400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:920800-931600	Strong transcription	Fetal Thymus	thymus
33	chr10:921000-931600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr10:921000-932400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr10:921400-930000	Strong transcription	Fetal Stomach	stomach
36	chr10:921400-932000	Strong transcription	NHEK	skin
37	chr10:921400-933200	Strong transcription	A549	lung
38	chr10:921600-930000	Strong transcription	Fetal Intestine Small	intestine
39	chr10:921600-931800	Strong transcription	Thymus	Thymus
40	chr10:921600-932000	Strong transcription	GM12878-XiMat	blood
41	chr10:922200-931400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:922600-929200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr10:923000-931600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr10:923200-929200	Strong transcription	Fetal Muscle Leg	muscle
45	chr10:923200-931800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:923400-930800	Strong transcription	Osteobl	bone
47	chr10:923400-931200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr10:923600-930600	Strong transcription	NH-A	brain
49	chr10:923800-929400	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr10:924400-934800	Weak transcription	Psoas Muscle	Psoas

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