Variant report

Variant	nsv899573
Chromosome Location	chr12:123312051-123528405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8271)
CpG islands
(count:10626)
Chromatin interactive
region (count:413)
LncRNA
region (count:23)
Mature miRNA
region (count: 1)
miRNA target
sites (count:3)

(count:8271 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123503552-123503904	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123320826-123321038	K562	blood:	n/a	n/a
3	ARID3A	chr12:123378545-123378724	K562	blood:	n/a	n/a
4	ARID3A	chr12:123350353-123350550	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:123320755-123321036	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:123458964-123459842	K562	blood:	n/a	n/a
7	ARID3A	chr12:123465167-123465328	K562	blood:	n/a	n/a
8	ARID3A	chr12:123484544-123484545	K562	blood:	n/a	n/a
9	ARID3A	chr12:123380717-123380889	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:123427273-123427515	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:123458804-123459447	HepG2	liver:	n/a	n/a
12	ARID3A	chr12:123402104-123402498	HepG2	liver:	n/a	n/a
13	ARID3A	chr12:123386156-123386505	K562	blood:	n/a	n/a
14	ARID3A	chr12:123371270-123373172	K562	blood:	n/a	n/a
15	ARID3A	chr12:123446328-123446528	K562	blood:	n/a	n/a
16	ARID3A	chr12:123384574-123384779	HepG2	liver:	n/a	n/a
17	ARID3A	chr12:123460562-123460690	K562	blood:	n/a	n/a
18	ARID3A	chr12:123347476-123347522	HepG2	liver:	n/a	n/a
19	ARID3A	chr12:123315476-123315703	HepG2	liver:	n/a	n/a
20	ARID3A	chr12:123367167-123367290	K562	blood:	n/a	n/a
21	ARID3A	chr12:123383219-123383864	HepG2	liver:	n/a	n/a
22	ARID3A	chr12:123351032-123351227	HepG2	liver:	n/a	n/a
23	ATF1	chr12:123458850-123459920	K562	blood:	n/a	n/a
24	ATF1	chr12:123315410-123315718	K562	blood:	n/a	n/a
25	ATF1	chr12:123379249-123379825	K562	blood:	n/a	n/a
26	ATF1	chr12:123371472-123372266	K562	blood:	n/a	n/a
27	ATF1	chr12:123386074-123386472	K562	blood:	n/a	n/a
28	ATF1	chr12:123316788-123316803	K562	blood:	n/a	n/a
29	ATF1	chr12:123341887-123342008	K562	blood:	n/a	n/a
30	ATF1	chr12:123518089-123518884	K562	blood:	n/a	n/a
31	ATF1	chr12:123446314-123446559	K562	blood:	n/a	n/a
32	ATF1	chr12:123384738-123384741	K562	blood:	n/a	n/a
33	ATF1	chr12:123321174-123321429	K562	blood:	n/a	n/a
34	ATF1	chr12:123380474-123381637	K562	blood:	n/a	n/a
35	ATF2	chr12:123380361-123381160	H1-hESC	embryonic stem cell:	n/a	chr12:123380756-123380767
36	ATF2	chr12:123458989-123459827	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr12:123411320-123411805	GM12878	blood:	n/a	n/a
38	ATF2	chr12:123371920-123372567	GM12878	blood:	n/a	n/a
39	ATF2	chr12:123419107-123419558	GM12878	blood:	n/a	n/a
40	ATF2	chr12:123356194-123356888	GM12878	blood:	n/a	n/a
41	ATF2	chr12:123320995-123321471	GM12878	blood:	n/a	n/a
42	ATF2	chr12:123477871-123478411	GM12878	blood:	n/a	n/a
43	ATF2	chr12:123371844-123373411	GM12878	blood:	n/a	n/a
44	ATF2	chr12:123356505-123357148	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF2	chr12:123458989-123459914	GM12878	blood:	n/a	n/a
46	ATF2	chr12:123380442-123381191	GM12878	blood:	n/a	chr12:123380756-123380767
47	ATF2	chr12:123411436-123411785	GM12878	blood:	n/a	n/a
48	ATF2	chr12:123360019-123360861	GM12878	blood:	n/a	n/a
49	ATF2	chr12:123465071-123465478	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr12:123431351-123431654	GM12878	blood:	n/a	n/a

(count:10626 , 50 per page) page: 1 2 3 4 5 6 7 ... 213

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123352600-123352650	NB4	blood:	n/a
2	chr12:123333205-123333255	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:123473974-123474024	IMR90	lung:	fetal
4	chr12:123349952-123350002	ovcar-3	ovarian:	n/a
5	chr12:123347684-123347734	NB4	blood:	n/a
6	chr12:123469507-123469557	SK-N-SH_RA	brain:	n/a
7	chr12:123444414-123444464	HCT-116	colon:	n/a
8	chr12:123477123-123477173	AoSMC	blood vessel:	n/a
9	chr12:123503709-123503759	HMEC	breast:	n/a
10	chr12:123471014-123471064	SK-N-SH_RA	brain:	n/a
11	chr12:123357128-123357178	A549	lung:	n/a
12	chr12:123347897-123347947	GM12878	blood:	n/a
13	chr12:123352600-123352650	NB4	blood:	n/a
14	chr12:123333205-123333255	HPAEpiC	pulmonary alveolar:	n/a
15	chr12:123473974-123474024	IMR90	lung:	fetal
16	chr12:123349952-123350002	ovcar-3	ovarian:	n/a
17	chr12:123347684-123347734	NB4	blood:	n/a
18	chr12:123469507-123469557	SK-N-SH_RA	brain:	n/a
19	chr12:123444414-123444464	HCT-116	colon:	n/a
20	chr12:123477123-123477173	AoSMC	blood vessel:	n/a
21	chr12:123503709-123503759	HMEC	breast:	n/a
22	chr12:123471014-123471064	SK-N-SH_RA	brain:	n/a
23	chr12:123357128-123357178	A549	lung:	n/a
24	chr12:123347897-123347947	GM12878	blood:	n/a
25	chr12:123351868-123351918	BE2_C	brain:	n/a
26	chr12:123340936-123340986	HAEpiC	amniotic membrane:	n/a
27	chr12:123339246-123339296	HRE	kidney:	n/a
28	chr12:123333379-123333429	MCF-7	breast:	n/a
29	chr12:123350361-123350411	PrEC	prostate:	n/a
30	chr12:123347897-123347947	HAEpiC	amniotic membrane:	n/a
31	chr12:123470623-123470673	PFSK-1	brain:	n/a
32	chr12:123527156-123527206	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:123471521-123471571	SK-N-SH_RA	brain:	n/a
34	chr12:123451323-123451373	NB4	blood:	n/a
35	chr12:123446272-123446322	AG09319	gingival:	n/a
36	chr12:123460159-123460209	H1-hESC	embryonic stem cell:	embryo
37	chr12:123482053-123482103	K562	blood:	n/a
38	chr12:123518888-123518938	GM12891	blood:	n/a
39	chr12:123453858-123453908	HEEpiC	esophagus:	n/a
40	chr12:123459832-123459882	MCF10A-Er-Src	breast:	n/a
41	chr12:123459295-123459345	SKMC	muscle:	n/a
42	chr12:123464932-123464982	PrEC	prostate:	n/a
43	chr12:123350969-123351019	NHBE	bronchial:	n/a
44	chr12:123451056-123451106	BE2_C	brain:	n/a
45	chr12:123333205-123333255	HepG2	liver:	n/a
46	chr12:123465968-123466018	HUVEC	blood vessel:	n/a
47	chr12:123340818-123340868	U87	brain:	n/a
48	chr12:123351798-123351848	HepG2	liver:	n/a
49	chr12:123464511-123464561	PANC-1	pancreas:	n/a
50	chr12:123465968-123466018	SK-N-SH_RA	brain:	n/a

(count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr12:123467419..123469042-chr12:123713866..123715628,2	K562	blood:
2	chr12:123329996..123331775-chr12:123464843..123467149,2	K562	blood:
3	chr12:123469171..123471248-chr12:123684974..123686845,2	K562	blood:
4	chr12:123319497..123321053-chr12:123333768..123335476,2	K562	blood:
5	chr12:123365783..123368770-chr12:123465841..123468621,2	K562	blood:
6	chr12:123364125..123366940-chr12:123368799..123371711,4	K562	blood:
7	chr12:123462407..123464564-chr12:123506369..123507907,2	MCF-7	breast:
8	chr12:123277865..123278865-chr12:123436617..123437472,2	MCF-7	breast:
9	chr12:123428831..123432471-chr12:123448558..123452277,3	K562	blood:
10	chr12:123509265..123512010-chr12:123514339..123516873,4	MCF-7	breast:
11	chr12:123467368..123470978-chr12:123525099..123527744,3	K562	blood:
12	chr12:123319192..123322007-chr12:123336993..123339222,2	MCF-7	breast:
13	chr12:123353433..123355596-chr12:123434511..123436337,2	MCF-7	breast:
14	chr12:123347975..123349618-chr12:123459301..123462302,3	K562	blood:
15	chr12:123428831..123432471-chr12:123448558..123452277,3	K562	blood:
16	chr12:123344910..123345440-chr12:123436821..123437509,2	HCT-116	colon:
17	chr12:123356529..123360323-chr12:123367921..123371522,3	K562	blood:
18	chr12:123318837..123320791-chr12:123463752..123466824,3	MCF-7	breast:
19	chr12:123312382..123316622-chr12:123318766..123321741,4	MCF-7	breast:
20	chr12:123433587..123436454-chr12:123458977..123461529,2	K562	blood:
21	chr12:123371782..123374478-chr12:123385509..123387711,2	K562	blood:
22	chr12:123314439..123317163-chr12:123634963..123637139,2	K562	blood:
23	chr12:123357674..123359965-chr12:123366472..123369443,2	MCF-7	breast:
24	chr12:123371833..123374158-chr12:123459518..123462902,4	K562	blood:
25	chr12:123376693..123378580-chr12:123401920..123404894,2	MCF-7	breast:
26	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
27	chr12:123379576..123381304-chr12:123456345..123457944,2	K562	blood:
28	chr12:123344900..123345435-chr12:123431652..123432233,2	K562	blood:
29	chr12:123464088..123467689-chr12:123493302..123498202,6	MCF-7	breast:
30	chr12:123490178..123492960-chr12:123494344..123496225,2	K562	blood:
31	chr12:123318760..123321217-chr12:123449684..123452450,2	K562	blood:
32	chr12:123436728..123438817-chr12:123451024..123452828,2	MCF-7	breast:
33	chr12:123321243..123322853-chr12:123379142..123381791,2	MCF-7	breast:
34	chr12:123449477..123453379-chr12:123715163..123718004,4	MCF-7	breast:
35	chr12:123463020..123465729-chr8:144897399..144899453,2	MCF-7	breast:
36	chr12:123333121..123335890-chr12:123448700..123450563,2	K562	blood:
37	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
38	chr12:123371574..123375041-chr12:123400711..123402843,3	MCF-7	breast:
39	chr12:123516372..123518949-chr12:123560194..123562309,2	MCF-7	breast:
40	chr12:123474530..123476275-chr12:123483617..123485746,2	K562	blood:
41	chr12:123450564..123451345-chr15:90727982..90728518,2	Hela-S3	cervix:
42	chr12:123436582..123437364-chr12:123722407..123722993,2	MCF-7	breast:
43	chr12:123378710..123380818-chr12:123397888..123402469,4	K562	blood:
44	chr12:123492899..123494796-chr12:123502898..123505077,2	MCF-7	breast:
45	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
46	chr12:123324556..123326269-chr12:123405620..123407753,2	MCF-7	breast:
47	chr12:123428831..123431560-chr12:123448558..123451555,2	K562	blood:
48	chr12:123354937..123357622-chr12:123439392..123442120,2	MCF-7	breast:
49	chr12:123494754..123497414-chr12:123717630..123719730,2	K562	blood:
50	chr12:123442313..123444976-chr12:123717456..123719233,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC62-2	chr12:123346263-123346544	NONHSAT031538
2	lnc-VPS37B-1	chr12:123348100-123348489	NONHSAT031539
3	lnc-ARL6IP4-2	chr12:123500727-123500976	NONHSAT031559
4	lnc-OGFOD2-1	chr12:123467167-123467453	NONHSAT031551
5	lnc-OGFOD2-1	chr12:123467016-123467085	NR_103512
6	lnc-OGFOD2-1	chr12:123465676-123466426	NONHSAT031551
7	lnc-HIP1R-2	chr12:123391825-123392189	NONHSAT031546
8	lnc-HIP1R-1	chr12:123349882-123350044	ENSG00000256152.2
9	lnc-HIP1R-1	chr12:123351248-123351568	ENSG00000256152.2
10	lnc-OGFOD2-1	chr12:123465263-123465359	NONHSAT031554
11	lnc-OGFOD2-1	chr12:123466143-123466268	NONHSAT031556
12	lnc-OGFOD2-1	chr12:123466578-123466621	NR_103512
13	lnc-OGFOD2-1	chr12:123467167-123467460	NR_103512
14	lnc-OGFOD2-1	chr12:123465703-123465846	NONHSAT031556
15	lnc-OGFOD2-1	chr12:123467167-123467461	NONHSAT031554
16	lnc-OGFOD2-1	chr12:123465229-123465292	NONHSAT031551
17	lnc-HIP1R-2	chr12:123391586-123391801	NONHSAT031546
18	lnc-OGFOD2-1	chr12:123465676-123465846	NR_103512
19	lnc-OGFOD2-1	chr12:123466504-123467085	NONHSAT031551
20	lnc-CCDC62-2	chr12:123346651-123347033	NONHSAT031538
21	lnc-OGFOD2-1	chr12:123464607-123465292	NR_103512
22	lnc-OGFOD2-1	chr12:123465676-123465813	NONHSAT031554
23	lnc-OGFOD2-1	chr12:123466203-123466356	NR_103512

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4304	chr12:123495249-123495265	MIMAT0016854

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	VPS37B	hsa-miR-34a-5p	chr12:123350123-123350144
2	OGFOD2	hsa-miR-124-3p	chr12:123464489-123464511
3	VPS37B	hsa-miR-34a-5p	chr12:123350129-123350122

Variant related genes	Relation type
OGFOD2	TF binding region
PITPNM2	TF binding region
RN7SL133P	TF binding region
HIP1R	TF binding region
ARL6IP4	TF binding region
VPS37B	TF binding region
MIR4304	TF binding region
ENSG00000256028	TF binding region
ABCB9	TF binding region
ENSG00000256152	TF binding region
OGFOD2	CpG island
PITPNM2	CpG island
RN7SL133P	CpG island
HIP1R	CpG island
ARL6IP4	CpG island
VPS37B	CpG island
MIR4304	CpG island
ENSG00000256028	CpG island
ABCB9	CpG island
ENSG00000256152	CpG island
ENSG00000270117	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000011007	chromatin interactions
ENSG00000241553	chromatin interactions
ENSG00000138757	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000271784	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000198231	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000250151	chromatin interactions
ENSG00000091527	chromatin interactions
ENSG00000139726	chromatin interactions
ENSG00000265603	chromatin interactions
ENSG00000265526	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000138768	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000171421	chromatin interactions
ENSG00000265345	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000172315	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000171148	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000180900	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000136048	chromatin interactions
ENSG00000169251	chromatin interactions
ENSG00000130783	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000111011	chromatin interactions

Extended variants
information (count: 8322 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:8322 , 50 per page) page: 1 2 3 4 5 6 7 ... 167

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs897393	chr12:123312051-123312052	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570365096	chr12:123312057-123312058	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186013659	chr12:123312062-123312063	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138822217	chr12:123312090-123312091	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573769037	chr12:123312100-123312101	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200043420	chr12:123312151-123312152	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140547189	chr12:123312337-123312338	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553460197	chr12:123312376-123312377	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572144228	chr12:123312377-123312378	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546020477	chr12:123312378-123312379	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145680034	chr12:123312397-123312398	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138243434	chr12:123312403-123312404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543416257	chr12:123312429-123312430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561685156	chr12:123312436-123312437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370550685	chr12:123312449-123312450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547490192	chr12:123312475-123312476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189162300	chr12:123312531-123312532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147919616	chr12:123312539-123312540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533352437	chr12:123312567-123312568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs149612142	chr12:123312578-123312579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570206058	chr12:123312601-123312602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71450646	chr12:123312660-123312661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs199529307	chr12:123312707-123312708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61428946	chr12:123312730-123312731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115009054	chr12:123312745-123312746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115915394	chr12:123312752-123312753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142203370	chr12:123312776-123312777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570950727	chr12:123312806-123312807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567306010	chr12:123312834-123312835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187518337	chr12:123312835-123312836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71433325	chr12:123312858-123312859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs71433326	chr12:123312864-123312865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71444564	chr12:123312871-123312872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs60308342	chr12:123312881-123312882	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs71444565	chr12:123312882-123312883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs71433327	chr12:123312898-123312899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185839396	chr12:123312920-123312921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557956739	chr12:123312941-123312942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143336111	chr12:123312944-123312945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113858827	chr12:123312958-123312959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536128464	chr12:123312984-123312985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572888837	chr12:123312985-123312986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528889794	chr12:123313015-123313016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182708260	chr12:123313056-123313057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559141982	chr12:123313084-123313085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533049472	chr12:123313087-123313088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551653934	chr12:123313119-123313120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2649904	chr12:123313154-123313155	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs59769449	chr12:123313165-123313166	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549263163	chr12:123313188-123313189	Weak transcription	Chromatin interactive region	1 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
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
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
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
head and neck squamous cell carcinoma	24351288	CNVD

Chromatin state (count:10362 , 50 per page) page: 1 2 3 4 5 6 7 ... 208

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123305800-123318800	Weak transcription	Pancreas	Pancrea
2	chr12:123310400-123312200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:123310400-123319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:123310600-123312200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:123310600-123312200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:123311000-123315200	Weak transcription	K562	blood
7	chr12:123311000-123318800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:123311200-123312200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:123311200-123312200	Enhancers	Liver	Liver
10	chr12:123311200-123312200	Enhancers	Fetal Intestine Large	intestine
11	chr12:123311200-123312200	Enhancers	Fetal Kidney	kidney
12	chr12:123311200-123312200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:123311200-123312600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:123311200-123312600	Enhancers	Stomach Mucosa	stomach
15	chr12:123311200-123313400	Weak transcription	Fetal Heart	heart
16	chr12:123311200-123315200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:123311200-123318200	Weak transcription	Fetal Brain Female	brain
18	chr12:123311200-123319000	Weak transcription	Aorta	Aorta
19	chr12:123311400-123312200	Bivalent Enhancer	HUVEC	blood vessel
20	chr12:123311400-123313600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:123311400-123315400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:123311400-123315600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:123311400-123318800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:123311600-123312200	Enhancers	NHEK	skin
25	chr12:123311600-123312400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:123311600-123312400	Enhancers	Brain Anterior Caudate	brain
27	chr12:123311600-123312400	Enhancers	Fetal Intestine Small	intestine
28	chr12:123311600-123312400	Enhancers	A549	lung
29	chr12:123311600-123315200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:123311600-123315600	Weak transcription	NHLF	lung
31	chr12:123311600-123318800	Weak transcription	NHDF-Ad	bronchial
32	chr12:123312000-123312200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:123312000-123312200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:123312000-123312200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr12:123312000-123312200	Bivalent/Poised TSS	Fetal Brain Male	brain
36	chr12:123312000-123312200	Flanking Active TSS	HepG2	liver
37	chr12:123312000-123312200	Flanking Active TSS	HMEC	breast
38	chr12:123312000-123312400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr12:123312000-123312400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:123312000-123312400	Enhancers	Primary B cells from peripheral blood	blood
41	chr12:123312000-123312400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:123312000-123312400	Enhancers	Brain Cingulate Gyrus	brain
43	chr12:123312000-123312400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr12:123312000-123312400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:123312000-123312400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:123312000-123312400	Enhancers	Brain Substantia Nigra	brain
47	chr12:123312200-123312400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:123312200-123312400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:123312200-123312400	Enhancers	HepG2	liver
50	chr12:123312200-123315200	Weak transcription	NHEK	skin

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