Variant report

Variant	nsv527988
Chromosome Location	chr12:122114593-122116794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:122114586-122114654	K562	blood:	n/a	chr12:122114595-122114604 chr12:122114593-122114606 chr12:122114594-122114603 chr12:122114595-122114604 chr12:122114589-122114610
2	CEBPB	chr12:122116228-122116576	HepG2	liver:	n/a	chr12:122116402-122116413
3	CEBPB	chr12:122116249-122116584	K562	blood:	n/a	chr12:122116402-122116413
4	CEBPB	chr12:122116327-122116548	Hela-S3	cervix:	n/a	chr12:122116402-122116413
5	CEBPB	chr12:122116307-122116503	K562	blood:	n/a	chr12:122116402-122116413
6	CEBPB	chr12:122116256-122116551	A549	lung:	n/a	chr12:122116402-122116413
7	CEBPB	chr12:122116281-122116535	H1-hESC	embryonic stem cell:	n/a	chr12:122116402-122116413
8	CEBPB	chr12:122116241-122116536	IMR90	lung:	n/a	chr12:122116402-122116413
9	ELK1	chr12:122116633-122116827	Hela-S3	cervix:	n/a	n/a
10	HCFC1	chr12:122116425-122117173	Hela-S3	cervix:	n/a	n/a
11	JUN	chr12:122116375-122116481	HepG2	liver:	n/a	chr12:122116403-122116416
12	JUND	chr12:122116314-122116496	HepG2	liver:	n/a	n/a
13	MAFK	chr12:122116591-122116851	Hela-S3	cervix:	n/a	n/a
14	NFYB	chr12:122116705-122116913	K562	blood:	n/a	chr12:122116833-122116847 chr12:122116832-122116847 chr12:122116836-122116848 chr12:122116832-122116847
15	RCOR1	chr12:122116654-122116841	Hela-S3	cervix:	n/a	n/a
16	ZKSCAN1	chr12:122116706-122116841	Hela-S3	cervix:	n/a	n/a
17	ZZZ3	chr12:122116404-122116929	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122116709-122116759	ECC-1	luminal epithelium:	n/a
2	chr12:122116709-122116759	MCF-7	breast:	n/a
3	chr12:122116709-122116759	GM12878	blood:	n/a
4	chr12:122116709-122116759	GM06990	blood:	n/a
5	chr12:122116709-122116759	NHDF-neo	bronchial:	n/a
6	chr12:122116709-122116759	Hela-S3	cervix:	n/a
7	chr12:122116709-122116759	Jurkat	blood:	n/a
8	chr12:122116709-122116759	PFSK-1	brain:	n/a
9	chr12:122116709-122116759	HIPEpiC	eye:	n/a
10	chr12:122116709-122116759	IMR90	lung:	fetal
11	chr12:122116709-122116759	T-47D	breast:	n/a
12	chr12:122116709-122116759	HL-60	blood:	n/a
13	chr12:122116709-122116759	Caco-2	colon:	n/a
14	chr12:122116709-122116759	SAEC	small airway:	n/a
15	chr12:122116709-122116759	PANC-1	pancreas:	n/a
16	chr12:122116709-122116759	GM12892	blood:	n/a
17	chr12:122116709-122116759	NB4	blood:	n/a
18	chr12:122116709-122116759	SK-N-SH_RA	brain:	n/a
19	chr12:122116709-122116759	H1-hESC	embryonic stem cell:	embryo
20	chr12:122116709-122116759	LNCaP	prostate:	n/a
21	chr12:122116709-122116759	NT2-D1	testis:	n/a
22	chr12:122116709-122116759	U87	brain:	n/a
23	chr12:122116709-122116759	BE2_C	brain:	n/a
24	chr12:122116709-122116759	HRPEpiC	eye:	n/a
25	chr12:122116709-122116759	PrEC	prostate:	n/a
26	chr12:122116709-122116759	SK-N-MC	brain:	n/a
27	chr12:122116709-122116759	AG04450	lung:	fetal
28	chr12:122116709-122116759	HCT-116	colon:	n/a
29	chr12:122116709-122116759	ProgFib	skin:	n/a
30	chr12:122116709-122116759	HMEC	breast:	n/a
31	chr12:122116709-122116759	A549	lung:	n/a
32	chr12:122116709-122116759	MCF10A-Er-Src	breast:	n/a
33	chr12:122116709-122116759	HRE	kidney:	n/a
34	chr12:122116709-122116759	NH-A	brain:	n/a
35	chr12:122116709-122116759	NHBE	bronchial:	n/a
36	chr12:122116709-122116759	SKMC	muscle:	n/a
37	chr12:122116709-122116759	AG09309	skin:	n/a
38	chr12:122116709-122116759	AG10803	skin:	n/a
39	chr12:122116709-122116759	HUVEC	blood vessel:	n/a
40	chr12:122116709-122116759	HNPCEpiC	eye:	n/a
41	chr12:122116709-122116759	HAEpiC	amniotic membrane:	n/a
42	chr12:122116709-122116759	AG04449	skin:	fetal
43	chr12:122116709-122116759	AoSMC	blood vessel:	n/a
44	chr12:122116709-122116759	SK-N-SH	brain:	n/a
45	chr12:122116709-122116759	GM19239	blood:	n/a
46	chr12:122116709-122116759	HRCEpiC	kidney:	n/a
47	chr12:122116709-122116759	AG09319	gingival:	n/a
48	chr12:122116709-122116759	HEEpiC	esophagus:	n/a
49	chr12:122116709-122116759	RPTEC	kidney:	n/a
50	chr12:122116709-122116759	Hepatocyte	liver:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122064532..122066691-chr12:122114264..122115778,2	MCF-7	breast:
2	chr12:122110522..122113228-chr12:122115462..122118527,3	MCF-7	breast:
3	chr12:122115091..122119007-chr12:122123231..122126528,5	K562	blood:
4	chr12:122114958..122116591-chr12:122123026..122125296,2	K562	blood:
5	chr12:122111338..122114231-chr12:122116440..122119005,2	K562	blood:

No data

Variant related genes	Relation type
MORN3	TF binding region
MORN3	CpG island
ENSG00000139714	chromatin interactions
ENSG00000182500	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs11833075	chr12:122114593-122114594	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117063635	chr12:122114599-122114600	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539355398	chr12:122114650-122114651	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563658887	chr12:122114668-122114669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372595845	chr12:122114669-122114670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557350399	chr12:122114681-122114682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11835830	chr12:122114715-122114716	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543032128	chr12:122114742-122114743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561307112	chr12:122114769-122114770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577375643	chr12:122114775-122114776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140445648	chr12:122114799-122114800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375677262	chr12:122114813-122114814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201053256	chr12:122114814-122114815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369480731	chr12:122114824-122114825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370101176	chr12:122114827-122114828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs61438304	chr12:122114828-122114829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs62850660	chr12:122114829-122114830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79239536	chr12:122114842-122114843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2720042	chr12:122114849-122114850	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs151072533	chr12:122114865-122114866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142409282	chr12:122114901-122114902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374467628	chr12:122114902-122114903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144668996	chr12:122114907-122114908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548109024	chr12:122114922-122114923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563456273	chr12:122114930-122114931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11834237	chr12:122114943-122114944	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369414861	chr12:122114958-122114959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374537853	chr12:122114970-122114971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549404404	chr12:122114971-122114972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141504288	chr12:122114986-122114987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs4760122	chr12:122115016-122115017	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547103794	chr12:122115081-122115082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12579497	chr12:122115101-122115102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538885123	chr12:122115103-122115104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555919075	chr12:122115133-122115134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557499252	chr12:122115141-122115142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569610571	chr12:122115150-122115151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536502351	chr12:122115177-122115178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554990629	chr12:122115178-122115179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573294748	chr12:122115180-122115181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540762579	chr12:122115198-122115199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374103238	chr12:122115222-122115223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577637570	chr12:122115235-122115236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs117929361	chr12:122115259-122115260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73227944	chr12:122115297-122115298	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149089288	chr12:122115346-122115347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181694791	chr12:122115361-122115362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530739606	chr12:122115410-122115411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555401678	chr12:122115439-122115440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561305287	chr12:122115478-122115479	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122103200-122116000	Weak transcription	K562	blood
2	chr12:122111200-122116200	Weak transcription	Brain Germinal Matrix	brain
3	chr12:122111400-122116000	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:122111400-122116200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:122111400-122116400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:122111400-122116800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:122111400-122116800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:122111400-122116800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:122111400-122116800	Weak transcription	Fetal Thymus	thymus
10	chr12:122111400-122117000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:122111400-122117000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:122111400-122117000	Weak transcription	Thymus	Thymus
13	chr12:122111400-122124200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:122111400-122124400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:122111400-122124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:122111600-122116600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:122111600-122116600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:122111600-122116800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:122111600-122116800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:122111600-122116800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:122111600-122117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:122111600-122117000	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:122111600-122119800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:122111600-122124600	Weak transcription	Fetal Kidney	kidney
25	chr12:122111800-122117200	Weak transcription	Brain Substantia Nigra	brain
26	chr12:122112800-122116600	Weak transcription	Placenta	Placenta
27	chr12:122113000-122117000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:122114200-122114600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:122114200-122114600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:122114400-122114600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:122114600-122116400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:122114600-122117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:122116000-122116800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:122116000-122117000	Enhancers	K562	blood
35	chr12:122116000-122117600	Enhancers	Fetal Muscle Leg	muscle
36	chr12:122116200-122117000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:122116200-122117200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:122116200-122117400	Enhancers	Fetal Muscle Trunk	muscle
39	chr12:122116200-122118000	Enhancers	Brain Germinal Matrix	brain
40	chr12:122116400-122117200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:122116400-122117200	Enhancers	HSMM	muscle
42	chr12:122116400-122117400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:122116400-122117400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:122116600-122117000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:122116600-122117400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:122116600-122117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:122116600-122118600	Enhancers	Placenta	Placenta

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