Variant report

Variant	nsv540589
Chromosome Location	chr10:46136345-46153760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
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	ARID3A	chr10:46150304-46150339	HepG2	liver:	n/a	n/a
2	ATF1	chr10:46152214-46152277	K562	blood:	n/a	n/a
3	ATF2	chr10:46148813-46149349	GM12878	blood:	n/a	n/a
4	CEBPB	chr10:46152532-46152732	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr10:46152521-46152851	A549	lung:	n/a	n/a
6	CEBPB	chr10:46152562-46152769	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr10:46152485-46152850	K562	blood:	n/a	n/a
8	CEBPB	chr10:46148631-46148831	HepG2	liver:	n/a	chr10:46148721-46148732
9	CEBPB	chr10:46152590-46152879	A549	lung:	n/a	n/a
10	CEBPB	chr10:46152497-46152834	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr10:46152455-46152828	K562	blood:	n/a	n/a
12	CEBPB	chr10:46152503-46152839	A549	lung:	n/a	n/a
13	CEBPB	chr10:46152487-46152846	IMR90	lung:	n/a	n/a
14	CEBPB	chr10:46152582-46152790	K562	blood:	n/a	n/a
15	CEBPB	chr10:46152480-46152825	MCF-7	breast:	n/a	n/a
16	CEBPB	chr10:46152546-46152811	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr10:46152566-46152838	HepG2	liver:	n/a	n/a
18	CEBPB	chr10:46149925-46150122	HepG2	liver:	n/a	n/a
19	CREB1	chr10:46150627-46151151	GM12878	blood:	n/a	n/a
20	CTCF	chr10:46140499-46140593	GM10248	blood:	n/a	n/a
21	CTCF	chr10:46147196-46147241	GM10248	blood:	n/a	n/a
22	CUX1	chr10:46149033-46149108	GM12878	blood:	n/a	n/a
23	CUX1	chr10:46141325-46141363	GM12878	blood:	n/a	n/a
24	EBF1	chr10:46149558-46149758	GM12878	blood:	n/a	n/a
25	ELK1	chr10:46150722-46150876	GM12878	blood:	n/a	n/a
26	EP300	chr10:46148933-46149320	GM12878	blood:	n/a	n/a
27	EP300	chr10:46141999-46142504	T-47D	breast:	n/a	n/a
28	FOXA1	chr10:46142018-46142521	T-47D	breast:	n/a	n/a
29	FOXA1	chr10:46150168-46150589	HepG2	liver:	n/a	n/a
30	FOXA1	chr10:46150087-46150726	HepG2	liver:	n/a	n/a
31	FOXA1	chr10:46141964-46142578	T-47D	breast:	n/a	n/a
32	FOXA1	chr10:46150277-46150522	HepG2	liver:	n/a	n/a
33	FOXA1	chr10:46150283-46150560	HepG2	liver:	n/a	n/a
34	FOXA2	chr10:46150264-46150536	HepG2	liver:	n/a	n/a
35	GATA3	chr10:46136547-46136764	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr10:46141979-46142484	T-47D	breast:	n/a	n/a
37	HNF4A	chr10:46150258-46150461	HepG2	liver:	n/a	n/a
38	IRF1	chr10:46152705-46153016	K562	blood:	n/a	n/a
39	IRF1	chr10:46152734-46152929	K562	blood:	n/a	n/a
40	MAFF	chr10:46139996-46140316	K562	blood:	n/a	n/a
41	MAFF	chr10:46139997-46140327	HepG2	liver:	n/a	n/a
42	MAFK	chr10:46139997-46140292	K562	blood:	n/a	n/a
43	MAFK	chr10:46140010-46140341	HepG2	liver:	n/a	n/a
44	MAFK	chr10:46140031-46140315	IMR90	lung:	n/a	n/a
45	MAFK	chr10:46140005-46140331	HepG2	liver:	n/a	n/a
46	MAFK	chr10:46140132-46140268	Hela-S3	cervix:	n/a	n/a
47	MEF2A	chr10:46148853-46149358	GM12878	blood:	n/a	n/a
48	MTA3	chr10:46148912-46149782	GM12878	blood:	n/a	n/a
49	MYC	chr10:46152660-46152699	H1-hESC	embryonic stem cell:	n/a	n/a
50	NFIC	chr10:46136378-46136791	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:46133340..46134958-chr10:46138632..46141400,2	K562	blood:
2	chr10:46135491..46137232-chr10:46139389..46142363,2	K562	blood:
3	chr10:46102379..46105047-chr10:46138813..46141083,2	K562	blood:
4	chr10:46135491..46137232-chr10:46139389..46142363,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCH8-3	chr10:46143742-46143982	NR_104256
2	lnc-MARCH8-3	chr10:46147414-46147481	NR_104256
3	lnc-MARCH8-3	chr10:46148432-46148507	NR_104256

No data

Variant related genes	Relation type
ZFAND4	TF binding region

Extended variants
information (count: 639 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181681895	chr10:46136366-46136367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151151437	chr10:46136394-46136395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78736574	chr10:46136400-46136401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140386274	chr10:46136401-46136402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572337767	chr10:46136403-46136404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187596498	chr10:46136404-46136405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557917417	chr10:46136416-46136417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576501368	chr10:46136433-46136434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386743358	chr10:46136472-46136473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78966992	chr10:46136473-46136474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190888987	chr10:46136541-46136542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556281853	chr10:46136586-46136587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541317035	chr10:46136587-46136588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377200996	chr10:46136623-46136624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559630051	chr10:46136670-46136671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532747434	chr10:46136710-46136711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369604680	chr10:46136738-46136739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183086585	chr10:46136780-46136781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185080112	chr10:46136805-46136806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534317195	chr10:46136813-46136814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145525503	chr10:46136815-46136816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189597718	chr10:46136902-46136903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138148347	chr10:46136962-46136963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2305299	chr10:46136993-46136994	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs546872790	chr10:46137011-46137012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571519263	chr10:46137023-46137024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140963728	chr10:46137055-46137056	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576019190	chr10:46137060-46137061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183318648	chr10:46137083-46137084	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187913239	chr10:46137159-46137160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555487555	chr10:46137197-46137198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573855195	chr10:46137222-46137223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144818583	chr10:46137240-46137241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559769575	chr10:46137243-46137244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578209102	chr10:46137266-46137267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545414129	chr10:46137281-46137282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563275136	chr10:46137329-46137330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12247223	chr10:46137337-46137338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112460076	chr10:46137385-46137386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369133922	chr10:46137415-46137416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80331425	chr10:46137440-46137441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560971277	chr10:46137551-46137552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528245352	chr10:46137560-46137561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193181245	chr10:46137595-46137596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149595910	chr10:46137618-46137619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532419107	chr10:46137628-46137629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372723715	chr10:46137644-46137645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570029608	chr10:46137720-46137721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537056976	chr10:46137747-46137748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72521462	chr10:46137748-46137749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21138945	CNVD
Autism	19287141	CNVD
Intellectual disability	21948486	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46090600-46167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:46096200-46142000	Weak transcription	Brain Anterior Caudate	brain
3	chr10:46098200-46153400	Weak transcription	HSMM	muscle
4	chr10:46100200-46142600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr10:46103400-46142200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr10:46104400-46151400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:46105600-46141600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:46106400-46137000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:46106400-46141400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr10:46106400-46142000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:46106800-46142000	Weak transcription	Fetal Kidney	kidney
12	chr10:46106800-46146400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:46107800-46141800	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:46107800-46142000	Weak transcription	Esophagus	oesophagus
15	chr10:46108000-46155800	Weak transcription	Brain Angular Gyrus	brain
16	chr10:46108200-46142000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:46108400-46142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:46108400-46149400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr10:46108400-46167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:46108600-46149200	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:46108600-46155400	Weak transcription	Fetal Intestine Small	intestine
22	chr10:46108800-46142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:46110200-46153800	Weak transcription	NH-A	brain
24	chr10:46110800-46156800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:46112200-46152400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:46118800-46142400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:46119800-46137000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr10:46119800-46148200	Weak transcription	Colonic Mucosa	Colon
29	chr10:46120000-46157800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr10:46120200-46148400	Weak transcription	Small Intestine	intestine
31	chr10:46122200-46142000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr10:46122200-46154600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:46122200-46157200	Weak transcription	Gastric	stomach
34	chr10:46122400-46137200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:46122400-46141800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr10:46122400-46142000	Weak transcription	Fetal Lung	lung
37	chr10:46122400-46142200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:46122400-46149000	Weak transcription	Brain Substantia Nigra	brain
39	chr10:46122400-46156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:46122600-46136400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:46122600-46139400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:46122600-46140600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr10:46122600-46141400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr10:46122600-46141800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:46122600-46142000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr10:46122600-46142000	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:46122600-46142000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr10:46122600-46142400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:46122600-46142400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr10:46122800-46137000	Weak transcription	Rectal Mucosa Donor 29	rectum

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