Variant report

Variant	esv1844039
Chromosome Location	chr10:43327844-43330365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr10:43328734-43329005	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:43327877-43328245	K562	blood:	n/a	n/a
3	POLR2A	chr10:43328780-43329247	GM12891	blood:	n/a	n/a
4	POLR2A	chr10:43328110-43328219	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr10:43328334-43328364	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr10:43327904-43328237	K562	blood:	n/a	n/a
7	POLR2A	chr10:43328894-43329029	Gliobla	brain:	n/a	n/a
8	POLR2A	chr10:43327867-43328337	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr10:43327628-43328156	K562	blood:	n/a	n/a
10	POLR2A	chr10:43327883-43328307	GM12891	blood:	n/a	n/a
11	POLR2A	chr10:43329116-43329139	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:43328785-43328873	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr10:43327855-43328430	K562	blood:	n/a	n/a
14	POLR2A	chr10:43328786-43329220	GM12891	blood:	n/a	n/a
15	POLR2A	chr10:43327797-43328297	GM12891	blood:	n/a	n/a
16	POLR2A	chr10:43329056-43329200	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr10:43328883-43329024	MCF-7	breast:	n/a	n/a
18	POLR2A	chr10:43327828-43328248	GM12891	blood:	n/a	n/a
19	POLR2A	chr10:43329039-43329175	MCF-7	breast:	n/a	n/a
20	POLR2A	chr10:43327327-43328303	GM12892	blood:	n/a	n/a
21	POLR2A	chr10:43328782-43329438	K562	blood:	n/a	n/a
22	POLR2A	chr10:43327973-43328227	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr10:43328789-43329192	K562	blood:	n/a	n/a
24	POLR2A	chr10:43328912-43328965	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:43329030-43329038	MCF-7	breast:	n/a	n/a
26	POLR2A	chr10:43328824-43329188	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43329092-43329142	GM19239	blood:	n/a
2	chr10:43329092-43329142	RPTEC	kidney:	n/a
3	chr10:43329092-43329142	HIPEpiC	eye:	n/a
4	chr10:43329092-43329142	HCPEpiC	choroid plexus:	n/a
5	chr10:43329092-43329142	NB4	blood:	n/a
6	chr10:43329092-43329142	AoSMC	blood vessel:	n/a
7	chr10:43329092-43329142	ovcar-3	ovarian:	n/a
8	chr10:43329092-43329142	GM12892	blood:	n/a
9	chr10:43329092-43329142	BJ	skin:	n/a
10	chr10:43329092-43329142	HRPEpiC	eye:	n/a
11	chr10:43329092-43329142	HNPCEpiC	eye:	n/a
12	chr10:43329092-43329142	HRE	kidney:	n/a
13	chr10:43329092-43329142	AG04450	lung:	fetal
14	chr10:43329092-43329142	Hepatocyte	liver:	n/a
15	chr10:43329092-43329142	HL-60	blood:	n/a
16	chr10:43329092-43329142	SK-N-MC	brain:	n/a
17	chr10:43329092-43329142	MCF10A-Er-Src	breast:	n/a
18	chr10:43329092-43329142	Jurkat	blood:	n/a
19	chr10:43329092-43329142	NHBE	bronchial:	n/a
20	chr10:43329092-43329142	ProgFib	skin:	n/a
21	chr10:43329092-43329142	MCF-7	breast:	n/a
22	chr10:43329092-43329142	HMEC	breast:	n/a
23	chr10:43329092-43329142	GM06990	blood:	n/a
24	chr10:43329092-43329142	U87	brain:	n/a
25	chr10:43329092-43329142	IMR90	lung:	fetal
26	chr10:43329092-43329142	HCF	heart:	n/a
27	chr10:43329092-43329142	CMK	blood:	n/a
28	chr10:43329092-43329142	HEK293	kidney:	embryo
29	chr10:43329092-43329142	AG04449	skin:	fetal
30	chr10:43329092-43329142	GM12891	blood:	n/a
31	chr10:43329092-43329142	PrEC	prostate:	n/a
32	chr10:43329092-43329142	HepG2	liver:	n/a
33	chr10:43329092-43329142	LNCaP	prostate:	n/a
34	chr10:43329092-43329142	T-47D	breast:	n/a
35	chr10:43329092-43329142	NHDF-neo	bronchial:	n/a
36	chr10:43329092-43329142	A549	lung:	n/a
37	chr10:43329092-43329142	AG09309	skin:	n/a
38	chr10:43329092-43329142	PANC-1	pancreas:	n/a
39	chr10:43329092-43329142	ECC-1	luminal epithelium:	n/a
40	chr10:43329092-43329142	K562	blood:	n/a
41	chr10:43329092-43329142	SKMC	muscle:	n/a
42	chr10:43329092-43329142	BE2_C	brain:	n/a
43	chr10:43329092-43329142	H1-hESC	embryonic stem cell:	embryo
44	chr10:43329092-43329142	HRCEpiC	kidney:	n/a
45	chr10:43329092-43329142	NH-A	brain:	n/a
46	chr10:43329092-43329142	AG10803	skin:	n/a
47	chr10:43329092-43329142	SK-N-SH	brain:	n/a
48	chr10:43329092-43329142	HPAEpiC	pulmonary alveolar:	n/a
49	chr10:43329092-43329142	HCM	heart:	n/a
50	chr10:43329092-43329142	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
RNU6-885P	TF binding region
RNU6-885P	CpG island

Extended variants
information (count: 120 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531418287	chr10:43327851-43327852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200736724	chr10:43327873-43327874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528985968	chr10:43327883-43327884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55818372	chr10:43327884-43327885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550019246	chr10:43327908-43327909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201656232	chr10:43327920-43327921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11239788	chr10:43327972-43327973	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76027098	chr10:43327991-43327992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547513334	chr10:43327996-43327997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139691694	chr10:43328018-43328019	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs55930857	chr10:43328022-43328023	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs184516095	chr10:43328031-43328032	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs6593499	chr10:43328037-43328038	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570229506	chr10:43328047-43328048	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs537269365	chr10:43328054-43328055	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556005304	chr10:43328055-43328056	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs142626723	chr10:43328087-43328088	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs541804716	chr10:43328091-43328092	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs566352907	chr10:43328110-43328111	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs553303239	chr10:43328119-43328120	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs113604728	chr10:43328250-43328251	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs112367237	chr10:43328258-43328259	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113134183	chr10:43328267-43328268	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs571717081	chr10:43328275-43328276	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs545456936	chr10:43328283-43328284	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs563858188	chr10:43328310-43328311	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs531377687	chr10:43328389-43328390	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs189352007	chr10:43328450-43328451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150155375	chr10:43328487-43328488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116806586	chr10:43328506-43328507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564931760	chr10:43328510-43328511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192276563	chr10:43328540-43328541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146561334	chr10:43328555-43328556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533383238	chr10:43328563-43328564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148650517	chr10:43328622-43328623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139700940	chr10:43328689-43328690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112772563	chr10:43328694-43328695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184669749	chr10:43328697-43328698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147817749	chr10:43328704-43328705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570192457	chr10:43328713-43328714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61844835	chr10:43328720-43328721	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200513807	chr10:43328776-43328777	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs189477587	chr10:43328794-43328795	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs370679442	chr10:43328798-43328799	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs181530913	chr10:43328821-43328822	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs185790096	chr10:43328823-43328824	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs143772750	chr10:43328852-43328853	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs188893120	chr10:43328857-43328858	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs373802404	chr10:43328858-43328859	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs571679489	chr10:43328883-43328884	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:43303600-43332200	Weak transcription	NHDF-Ad	bronchial
4	chr10:43308200-43328200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:43309800-43330000	Weak transcription	Small Intestine	intestine
6	chr10:43311200-43329000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:43311400-43329000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:43311600-43328200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:43312000-43328400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:43314400-43332200	Weak transcription	Right Atrium	heart
11	chr10:43314600-43329800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr10:43317800-43328200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr10:43317800-43328200	Strong transcription	Fetal Intestine Large	intestine
14	chr10:43317800-43328200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr10:43317800-43328200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr10:43320000-43329000	Weak transcription	Fetal Heart	heart
17	chr10:43320000-43332600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:43320400-43328400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:43321400-43332800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr10:43321600-43328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:43321600-43332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:43321800-43328200	Strong transcription	Fetal Stomach	stomach
23	chr10:43322200-43328200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:43323000-43332400	Weak transcription	Psoas Muscle	Psoas
25	chr10:43323400-43332200	Weak transcription	Stomach Mucosa	stomach
26	chr10:43323800-43329200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:43324000-43331600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:43325000-43328200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr10:43325000-43328200	Strong transcription	Lung	lung
30	chr10:43325000-43328200	Strong transcription	Thymus	Thymus
31	chr10:43325000-43328400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr10:43325000-43328400	Strong transcription	Fetal Brain Female	brain
33	chr10:43325000-43328400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr10:43325000-43329400	Strong transcription	Dnd41	blood
35	chr10:43325200-43328200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr10:43325200-43328200	Strong transcription	Fetal Muscle Leg	muscle
37	chr10:43325400-43328000	Strong transcription	Placenta	Placenta
38	chr10:43325400-43328200	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr10:43325400-43328200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:43325400-43328200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr10:43325400-43328200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr10:43325400-43328200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr10:43325400-43328200	Strong transcription	Liver	Liver
44	chr10:43325400-43328200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr10:43325400-43328200	Strong transcription	Fetal Thymus	thymus
46	chr10:43325400-43328200	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr10:43325400-43328200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr10:43325400-43328200	Strong transcription	A549	lung
49	chr10:43325400-43328400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:43325400-43328400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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