Variant report

Variant	nsv930978
Chromosome Location	chr12:118866332-119450600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3169)
CpG islands
(count:2381)
Chromatin interactive
region (count:63)
LncRNA
region (count:65)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3169 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:119118260-119118469	K562	blood:	n/a	n/a
2	ARID3A	chr12:119151817-119153000	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:119218845-119219045	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:119041419-119041867	HepG2	liver:	n/a	n/a
5	ATF1	chr12:118866965-118867088	K562	blood:	n/a	n/a
6	ATF1	chr12:119044103-119044108	K562	blood:	n/a	n/a
7	ATF2	chr12:119127458-119127977	GM12878	blood:	n/a	n/a
8	ATF3	chr12:119056584-119056782	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr12:118979830-118980049	K562	blood:	n/a	n/a
10	ATF3	chr12:119056547-119056838	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr12:119056617-119056750	K562	blood:	n/a	n/a
12	BACH1	chr12:119418338-119418558	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr12:119449965-119450392	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr12:119071146-119071219	K562	blood:	n/a	n/a
15	BACH1	chr12:119041920-119042070	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr12:118905720-118905723	K562	blood:	n/a	n/a
17	BACH1	chr12:119423914-119424114	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr12:119419234-119419779	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr12:119188512-119188757	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr12:119127656-119127969	GM12878	blood:	n/a	n/a
21	BATF	chr12:119119048-119119439	GM12878	blood:	n/a	n/a
22	BATF	chr12:119127653-119127993	GM12878	blood:	n/a	n/a
23	BATF	chr12:119180926-119181178	GM12878	blood:	n/a	n/a
24	BATF	chr12:119221610-119221826	GM12878	blood:	n/a	n/a
25	BCL11A	chr12:119120439-119120774	GM12878	blood:	n/a	n/a
26	BCL11A	chr12:119127579-119127974	GM12878	blood:	n/a	chr12:119127860-119127869
27	BCL3	chr12:119378130-119378354	GM12878	blood:	n/a	n/a
28	BCL3	chr12:118910108-118910332	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:119127654-119128060	GM12878	blood:	n/a	chr12:119127860-119127869
30	BHLHE40	chr12:118977314-118977316	K562	blood:	n/a	n/a
31	BHLHE40	chr12:119152330-119152673	HepG2	liver:	n/a	n/a
32	BHLHE40	chr12:119151813-119152777	HepG2	liver:	n/a	n/a
33	BHLHE40	chr12:119417687-119417852	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:119041434-119041936	HepG2	liver:	n/a	n/a
35	BHLHE40	chr12:119049600-119049910	K562	blood:	n/a	n/a
36	BHLHE40	chr12:119118288-119118471	K562	blood:	n/a	n/a
37	BHLHE40	chr12:118979885-118980016	K562	blood:	n/a	n/a
38	BHLHE40	chr12:119063152-119063382	K562	blood:	n/a	n/a
39	BRCA1	chr12:118879833-118879865	GM12878	blood:	n/a	n/a
40	BRCA1	chr12:119228482-119228508	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr12:119418635-119418640	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr12:118966368-118966812	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr12:119288183-119288243	GM12878	blood:	n/a	n/a
44	CBX3	chr12:119151712-119152327	HCT-116	colon:	n/a	n/a
45	CBX3	chr12:119145668-119146026	K562	blood:	n/a	n/a
46	CBX3	chr12:119063053-119063415	K562	blood:	n/a	n/a
47	CBX3	chr12:119145694-119146135	K562	blood:	n/a	n/a
48	CCNT2	chr12:119063165-119063384	K562	blood:	n/a	n/a
49	CEBPB	chr12:118979723-118980052	K562	blood:	n/a	n/a
50	CEBPB	chr12:119400799-119401160	IMR90	lung:	n/a	chr12:119400972-119400983

(count:2381 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:119216236-119216286	AG04449	skin:	fetal
2	chr12:119212319-119212369	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:119216236-119216286	AG04449	skin:	fetal
4	chr12:119212319-119212369	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:119416585-119416635	Hepatocyte	liver:	n/a
6	chr12:119214021-119214071	LNCaP	prostate:	n/a
7	chr12:119212319-119212369	IMR90	lung:	fetal
8	chr12:118931894-118931944	HRE	kidney:	n/a
9	chr12:119418367-119418417	HIPEpiC	eye:	n/a
10	chr12:119446891-119446941	HEEpiC	esophagus:	n/a
11	chr12:119423402-119423452	SK-N-SH_RA	brain:	n/a
12	chr12:119418004-119418054	Hepatocyte	liver:	n/a
13	chr12:119187794-119187844	AG09309	skin:	n/a
14	chr12:119048988-119049038	SK-N-SH_RA	brain:	n/a
15	chr12:119027591-119027641	AG09309	skin:	n/a
16	chr12:119419106-119419156	SKMC	muscle:	n/a
17	chr12:119419635-119419685	GM06990	blood:	n/a
18	chr12:119418804-119418854	PrEC	prostate:	n/a
19	chr12:119420927-119420977	HRPEpiC	eye:	n/a
20	chr12:119419143-119419193	HUVEC	blood vessel:	n/a
21	chr12:119446891-119446941	AG04450	lung:	fetal
22	chr12:119216236-119216286	HAEpiC	amniotic membrane:	n/a
23	chr12:119313382-119313432	HAEpiC	amniotic membrane:	n/a
24	chr12:119417743-119417793	RPTEC	kidney:	n/a
25	chr12:119212319-119212369	GM12891	blood:	n/a
26	chr12:119418622-119418672	Caco-2	colon:	n/a
27	chr12:119418676-119418726	HRE	kidney:	n/a
28	chr12:119417806-119417856	SK-N-SH	brain:	n/a
29	chr12:119419635-119419685	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:118931894-118931944	PFSK-1	brain:	n/a
31	chr12:119027591-119027641	HCT-116	colon:	n/a
32	chr12:119212313-119212363	BJ	skin:	n/a
33	chr12:119418676-119418726	PFSK-1	brain:	n/a
34	chr12:119048988-119049038	AG09319	gingival:	n/a
35	chr12:119418804-119418854	BJ	skin:	n/a
36	chr12:119027591-119027641	IMR90	lung:	fetal
37	chr12:119211794-119211844	ovcar-3	ovarian:	n/a
38	chr12:119416585-119416635	HCM	heart:	n/a
39	chr12:119419143-119419193	SK-N-SH_RA	brain:	n/a
40	chr12:119419106-119419156	SK-N-SH	brain:	n/a
41	chr12:119446891-119446941	A549	lung:	n/a
42	chr12:119208234-119208284	NB4	blood:	n/a
43	chr12:119216236-119216286	HCM	heart:	n/a
44	chr12:119420927-119420977	BJ	skin:	n/a
45	chr12:119447476-119447526	HNPCEpiC	eye:	n/a
46	chr12:119027591-119027641	BE2_C	brain:	n/a
47	chr12:119119725-119119775	HNPCEpiC	eye:	n/a
48	chr12:119419696-119419746	NHBE	bronchial:	n/a
49	chr12:119034267-119034317	HNPCEpiC	eye:	n/a
50	chr12:119419106-119419156	HPAEpiC	pulmonary alveolar:	n/a

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:119277859..119279542-chr12:119284779..119287652,2	K562	blood:
2	chr12:119117331..119119543-chr12:119272928..119275663,2	K562	blood:
3	chr12:119417707..119418245-chr12:119474754..119475351,2	MCF-7	breast:
4	chr12:119160414..119163209-chr12:119163501..119166217,2	MCF-7	breast:
5	chr12:119137290..119138837-chr12:119141047..119142658,2	MCF-7	breast:
6	chr12:119117331..119119543-chr12:119272928..119275663,2	K562	blood:
7	chr12:119417235..119417851-chr12:119850790..119851632,2	K562	blood:
8	chr12:118883772..118884730-chr12:119060191..119061108,3	MCF-7	breast:
9	chr12:119411792..119414282-chr12:119618328..119620117,2	MCF-7	breast:
10	chr12:118965385..118968060-chr12:118969035..118971481,2	K562	blood:
11	chr12:119375176..119376854-chr12:119378459..119381025,3	K562	blood:
12	chr12:118883772..118884730-chr12:119060191..119061108,3	MCF-7	breast:
13	chr12:118965385..118968060-chr12:118969035..118971481,2	K562	blood:
14	chr12:119303254..119305242-chr12:119306087..119307779,2	K562	blood:
15	chr12:119391322..119393259-chr12:119419157..119421683,2	MCF-7	breast:
16	chr12:119035847..119037394-chr12:119041054..119043149,2	K562	blood:
17	chr12:119150767..119153153-chr12:119153929..119156219,2	K562	blood:
18	chr12:119025023..119026651-chr9:86161675..86163192,2	MCF-7	breast:
19	chr12:119282491..119284447-chr12:119286794..119288862,2	K562	blood:
20	chr12:119115880..119117499-chr12:119118007..119120826,2	MCF-7	breast:
21	chr12:119375176..119376854-chr12:119378459..119381025,3	K562	blood:
22	chr12:118976885..118978430-chr12:118978563..118980191,2	K562	blood:
23	chr12:119160414..119163209-chr12:119163501..119166217,2	MCF-7	breast:
24	chr12:119035847..119037394-chr12:119041054..119043149,2	K562	blood:
25	chr12:118873972..118874726-chr12:119474831..119475363,2	MCF-7	breast:
26	chr12:118842493..118843365-chr12:119060157..119061106,4	MCF-7	breast:
27	chr12:119297871..119299397-chr12:119301773..119304503,2	K562	blood:
28	chr12:119150767..119153153-chr12:119153929..119156219,2	K562	blood:
29	chr12:119219498..119221914-chr12:119224943..119228336,3	K562	blood:
30	chr12:118999474..119001339-chr12:119002292..119005098,2	K562	blood:
31	chr12:119212868..119215248-chr12:119216097..119217975,2	K562	blood:
32	chr12:119449958..119452455-chr12:119456708..119459020,2	K562	blood:
33	chr12:119019620..119021400-chr12:119023440..119025159,2	K562	blood:
34	chr12:118903371..118904028-chr12:119060619..119061618,2	MCF-7	breast:
35	chr12:119151580..119152192-chr12:119474698..119475328,2	MCF-7	breast:
36	chr12:118976885..118978430-chr12:118978563..118980191,2	K562	blood:
37	chr12:118999474..119001339-chr12:119002292..119005098,2	K562	blood:
38	chr12:119391457..119393836-chr12:119397133..119400298,3	K562	blood:
39	chr12:119026589..119028624-chr17:57915360..57917197,2	MCF-7	breast:
40	chr12:119300227..119302716-chr12:119306043..119308146,2	K562	blood:
41	chr12:118964692..118966723-chr5:177630816..177632690,2	MCF-7	breast:
42	chr12:119391457..119393836-chr12:119397133..119400298,3	K562	blood:
43	chr12:118842861..118843440-chr12:119151910..119152659,2	MCF-7	breast:
44	chr12:119019620..119021400-chr12:119023440..119025159,2	K562	blood:
45	chr12:119115880..119117499-chr12:119118007..119120826,2	MCF-7	breast:
46	chr12:118862531..118864605-chr12:118873789..118875606,2	MCF-7	breast:
47	chr12:118866706..118867455-chr12:118883728..118884409,2	MCF-7	breast:
48	chr12:119391457..119394278-chr12:119398798..119400575,2	K562	blood:
49	chr12:119417365..119417869-chr12:120086788..120087682,2	MCF-7	breast:
50	chr12:119300227..119302716-chr12:119306043..119308146,2	K562	blood:

(count:65 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRRM4-4	chr12:119337925-119337994	NONHSAT031056
2	lnc-TAOK3-2	chr12:119083120-119083334	ENSG00000255714
3	lnc-TAOK3-4	chr12:119212732-119212942	ENSG00000255618
4	lnc-TAOK3-4	chr12:119212291-119212397	XLOC_010215
5	lnc-TAOK3-3	chr12:119199397-119199469	XLOC_010214
6	lnc-TAOK3-4	chr12:119210855-119211107	XLOC_010215
7	lnc-TAOK3-6	chr12:119346641-119346735	ENSG00000256149
8	lnc-TAOK3-3	chr12:119196610-119196836	ENSG00000256750
9	lnc-TAOK3-3	chr12:119196218-119196836	NONHSAT031046
10	lnc-TAOK3-6	chr12:119329194-119329286	ENSG00000256149
11	lnc-SRRM4-4	chr12:119337131-119337276	NONHSAT031056
12	lnc-TAOK3-3	chr12:119196362-119196836	XLOC_010214
13	lnc-TAOK3-2	chr12:119085680-119085759	ENSG00000255714
14	lnc-TAOK3-6	chr12:119301929-119302119	ENSG00000256149
15	lnc-TAOK3-2	chr12:119086289-119086529	ENSG00000255714
16	lnc-TAOK3-4	chr12:119210845-119211107	XLOC_010215
17	lnc-TAOK3-3	chr12:119197779-119197872	XLOC_010214
18	lnc-TAOK3-4	chr12:119211416-119211580	NONHSAT031051
19	lnc-TAOK3-7	chr12:119393794-119394018	NONHSAT031059
20	lnc-TAOK3-7	chr12:119393611-119393699	NONHSAT031059
21	lnc-TAOK3-4	chr12:119211416-119211580	XLOC_010215
22	lnc-TAOK3-4	chr12:119210837-119211107	ENSG00000255618
23	lnc-HSPB8-2	chr12:119439456-119439647	ENSG00000256031.1
24	lnc-TAOK3-3	chr12:119196559-119196836	ENSG00000256750
25	lnc-HSPB8-6	chr12:119431662-119431956	NONHSAT031062
26	lnc-TAOK3-4	chr12:119212061-119212087	NONHSAT031051
27	lnc-TAOK3-4	chr12:119211416-119211580	ENSG00000255618
28	lnc-SRRM4-5	chr12:119213844-119214031	l_739_chr12:119213843-119215417_liver
29	lnc-HSPB8-2	chr12:119438932-119439126	ENSG00000256031.1
30	lnc-TAOK3-7	chr12:119392577-119392919	XLOC_010216
31	lnc-TAOK3-3	chr12:119199397-119199458	NONHSAT031046
32	lnc-TAOK3-3	chr12:119199397-119199469	XLOC_010214
33	lnc-TAOK3-11	chr12:119175769-119176316	NONHSAT031045
34	lnc-TAOK3-7	chr12:119393388-119393419	XLOC_010216
35	lnc-TAOK3-7	chr12:119393388-119393428	NONHSAT031060
36	lnc-TAOK3-3	chr12:119199397-119199462	ENSG00000256750
37	lnc-TAOK3-13	chr12:119418009-119418111	ucscGeneNc_uc001tyk_1
38	lnc-SRRM4-4	chr12:119313256-119313389	NONHSAT031056
39	lnc-TAOK3-2	chr12:119082654-119083334	XLOC_010213
40	lnc-TAOK3-3	chr12:119199397-119199484	ENSG00000256750
41	lnc-SUDS3-2	chr12:119133324-119134955	ncRnaDb_ncrna_FR048197_1
42	lnc-TAOK3-5	chr12:119256609-119256826	ENSG00000255814
43	lnc-SUDS3-1	chr12:118867635-118867734	l_738_chr12:118861629-118875945_testes
44	lnc-TAOK3-3	chr12:119197779-119197872	ENSG00000256750
45	lnc-TAOK3-7	chr12:119392576-119392919	NONHSAT031059
46	lnc-TAOK3-10	chr12:119143047-119143452	expReg_chr12_10611_-
47	lnc-TAOK3-6	chr12:119305401-119305468	ENSG00000256149
48	lnc-TAOK3-3	chr12:119197779-119197872	NONHSAT031046
49	lnc-SRRM4-5	chr12:119215330-119215417	l_739_chr12:119213843-119215417_liver
50	lnc-SRRM4-2	chr12:119305042-119305178	XLOC_009907

No data

Variant related genes	Relation type
ENSG00000256750	TF binding region
ENSG00000256149	TF binding region
RNA5SP374	TF binding region
ENSG00000255714	TF binding region
RPL17P37	TF binding region
ENSG00000201042	TF binding region
ENSG00000255618	TF binding region
ENSG00000256031	TF binding region
ENSG00000255814	TF binding region
RN7SL508P	TF binding region
SRRM4	TF binding region
ENSG00000256750	CpG island
ENSG00000256149	CpG island
RNA5SP374	CpG island
ENSG00000255714	CpG island
RPL17P37	CpG island
ENSG00000201042	CpG island
ENSG00000255618	CpG island
ENSG00000256031	CpG island
ENSG00000255814	CpG island
RN7SL508P	CpG island
SRRM4	CpG island
ENSG00000139767	chromatin interactions
ENSG00000255618	chromatin interactions
ENSG00000197451	chromatin interactions
MCL1	miRNA target sites
CSNK1G1	miRNA target sites
FSCN1	miRNA target sites

Extended variants
information (count: 12344 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:12344 , 50 per page) page: 1 2 3 4 5 6 7 ... 247

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542642026	chr12:118866344-118866345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7965661	chr12:118866370-118866371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575963134	chr12:118866371-118866372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138577095	chr12:118866388-118866389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113104302	chr12:118866405-118866406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374813064	chr12:118866406-118866407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527521231	chr12:118866407-118866408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547188083	chr12:118866413-118866414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375836580	chr12:118866414-118866415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186273067	chr12:118866446-118866447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377064879	chr12:118866526-118866527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547267018	chr12:118866553-118866554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552348347	chr12:118866571-118866572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10850969	chr12:118866601-118866602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs190204897	chr12:118866617-118866618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182801452	chr12:118866634-118866635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551915321	chr12:118866668-118866669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571761355	chr12:118866669-118866670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531417595	chr12:118866680-118866681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186655758	chr12:118866767-118866768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190649509	chr12:118866789-118866790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141370242	chr12:118866812-118866813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536566064	chr12:118866826-118866827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182990828	chr12:118866831-118866832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568059043	chr12:118866834-118866835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544593997	chr12:118866888-118866889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564682746	chr12:118866921-118866922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571788518	chr12:118866988-118866989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17625679	chr12:118867024-118867025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs560944199	chr12:118867036-118867037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529873233	chr12:118867049-118867050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549811380	chr12:118867134-118867135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377610502	chr12:118867219-118867220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563559136	chr12:118867273-118867274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538619461	chr12:118867278-118867279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368267719	chr12:118867279-118867280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs60840022	chr12:118867316-118867317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73207564	chr12:118867371-118867372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188689326	chr12:118867470-118867471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192701567	chr12:118867478-118867479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377014846	chr12:118867500-118867501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547841454	chr12:118867527-118867528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182864928	chr12:118867579-118867580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527273461	chr12:118867611-118867612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146956344	chr12:118867655-118867656	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs11068945	chr12:118867664-118867665	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs556622649	chr12:118867681-118867682	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs79468706	chr12:118867701-118867702	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs116661250	chr12:118867705-118867706	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs114064218	chr12:118867706-118867707	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Lung cancer	18172305	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1491 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118853400-118867600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:118854000-118870800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:118854400-118867600	Weak transcription	Gastric	stomach
4	chr12:118854600-118866800	Weak transcription	Aorta	Aorta
5	chr12:118854600-118867600	Weak transcription	Ovary	ovary
6	chr12:118854600-118870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:118854600-118874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:118854800-118867600	Weak transcription	Psoas Muscle	Psoas
9	chr12:118854800-118870600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:118854800-118874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:118855000-118867000	Weak transcription	Liver	Liver
12	chr12:118855000-118867600	Weak transcription	Lung	lung
13	chr12:118855000-118867600	Weak transcription	Small Intestine	intestine
14	chr12:118855200-118866600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:118855200-118868200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:118855200-118870000	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:118855200-118874200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:118856600-118867600	Weak transcription	Pancreas	Pancrea
19	chr12:118856600-118868200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:118856800-118866600	Weak transcription	Adipose Nuclei	Adipose
21	chr12:118856800-118868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:118857000-118874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:118857400-118869000	Weak transcription	Primary T cells from cord blood	blood
24	chr12:118857400-118870600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:118864400-118867400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:118866000-118866400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:118866600-118867800	Enhancers	Adipose Nuclei	Adipose
28	chr12:118867600-118867800	Enhancers	Ovary	ovary
29	chr12:118867600-118867800	Enhancers	Pancreas	Pancrea
30	chr12:118867600-118867800	Enhancers	Psoas Muscle	Psoas
31	chr12:118867600-118867800	Enhancers	Small Intestine	intestine
32	chr12:118867600-118868000	Enhancers	Gastric	stomach
33	chr12:118867600-118868000	Enhancers	Lung	lung
34	chr12:118867600-118868000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr12:118867600-118868600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:118867800-118869000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:118868000-118870600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:118868000-118871000	Weak transcription	Gastric	stomach
39	chr12:118868000-118871000	Weak transcription	Lung	lung
40	chr12:118868200-118868800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:118868400-118869400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:118868400-118869400	Enhancers	NHDF-Ad	bronchial
43	chr12:118868800-118870600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:118869400-118870000	Weak transcription	NHDF-Ad	bronchial
45	chr12:118870000-118871400	Enhancers	NHDF-Ad	bronchial
46	chr12:118870600-118870800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:118870600-118871200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:118870600-118871600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr12:118870600-118871800	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:118870800-118871000	Enhancers	Sigmoid Colon	Sigmoid Colon

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