Variant report

Variant	nsv976736
Chromosome Location	chr12:9431362-9524845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1829)
CpG islands
(count:1771)
Chromatin interactive
region (count:52)
LncRNA
region (count:39)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1829 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:9435670-9436330	K562	blood:	n/a	n/a
2	ARID3A	chr12:9493327-9493396	K562	blood:	n/a	n/a
3	ARID3A	chr12:9495326-9496012	HepG2	liver:	n/a	n/a
4	ATF1	chr12:9519822-9520248	K562	blood:	n/a	n/a
5	ATF1	chr12:9515879-9516104	K562	blood:	n/a	n/a
6	ATF1	chr12:9492605-9492785	K562	blood:	n/a	n/a
7	ATF1	chr12:9500046-9500362	K562	blood:	n/a	n/a
8	ATF1	chr12:9436462-9436639	K562	blood:	n/a	n/a
9	ATF1	chr12:9493010-9493521	K562	blood:	n/a	n/a
10	ATF1	chr12:9520485-9520799	K562	blood:	n/a	n/a
11	ATF1	chr12:9499390-9499755	K562	blood:	n/a	n/a
12	ATF1	chr12:9517037-9517719	K562	blood:	n/a	n/a
13	ATF2	chr12:9514231-9515229	GM12878	blood:	n/a	n/a
14	ATF2	chr12:9514144-9518351	GM12878	blood:	n/a	n/a
15	ATF2	chr12:9515316-9516084	GM12878	blood:	n/a	n/a
16	ATF2	chr12:9483724-9484288	GM12878	blood:	n/a	n/a
17	ATF2	chr12:9516298-9518464	GM12878	blood:	n/a	n/a
18	ATF2	chr12:9483870-9484266	GM12878	blood:	n/a	n/a
19	BACH1	chr12:9490118-9490128	K562	blood:	n/a	n/a
20	BACH1	chr12:9496419-9496420	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr12:9507019-9507395	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr12:9516711-9516911	K562	blood:	n/a	n/a
23	BACH1	chr12:9486740-9486998	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr12:9516818-9517792	GM12878	blood:	n/a	n/a
25	BATF	chr12:9516696-9517884	GM12878	blood:	n/a	n/a
26	BATF	chr12:9437518-9437975	GM12878	blood:	n/a	n/a
27	BATF	chr12:9507017-9507310	GM12878	blood:	n/a	n/a
28	BATF	chr12:9442887-9443109	GM12878	blood:	n/a	n/a
29	BATF	chr12:9436520-9437233	GM12878	blood:	n/a	n/a
30	BATF	chr12:9506976-9507254	GM12878	blood:	n/a	n/a
31	BATF	chr12:9436195-9436514	GM12878	blood:	n/a	n/a
32	BATF	chr12:9514492-9515074	GM12878	blood:	n/a	n/a
33	BATF	chr12:9515676-9516129	GM12878	blood:	n/a	chr12:9515939-9515950
34	BATF	chr12:9442824-9443058	GM12878	blood:	n/a	n/a
35	BATF	chr12:9437291-9437995	GM12878	blood:	n/a	n/a
36	BCL11A	chr12:9514587-9514903	GM12878	blood:	n/a	n/a
37	BCL11A	chr12:9437489-9438007	GM12878	blood:	n/a	n/a
38	BCL11A	chr12:9507015-9507175	GM12878	blood:	n/a	n/a
39	BCL11A	chr12:9506964-9507320	GM12878	blood:	n/a	n/a
40	BCL11A	chr12:9436213-9436749	GM12878	blood:	n/a	chr12:9436247-9436260 chr12:9436252-9436261 chr12:9436523-9436532
41	BCL11A	chr12:9436867-9437442	GM12878	blood:	n/a	chr12:9436944-9436953
42	BCL11A	chr12:9436547-9436721	GM12878	blood:	n/a	n/a
43	BCL11A	chr12:9436252-9436488	GM12878	blood:	n/a	chr12:9436252-9436261
44	BCL11A	chr12:9514518-9515013	GM12878	blood:	n/a	chr12:9514548-9514557
45	BCL11A	chr12:9436944-9437125	GM12878	blood:	n/a	chr12:9436944-9436953
46	BCL11A	chr12:9516896-9517726	GM12878	blood:	n/a	n/a
47	BCL11A	chr12:9516825-9517859	GM12878	blood:	n/a	n/a
48	BCL11A	chr12:9437585-9438094	GM12878	blood:	n/a	chr12:9438052-9438061
49	BCL3	chr12:9514536-9515106	GM12878	blood:	n/a	chr12:9514548-9514557
50	BCL3	chr12:9516906-9517768	GM12878	blood:	n/a	n/a

(count:1771 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:9452226-9452276	HAEpiC	amniotic membrane:	n/a
2	chr12:9478906-9478956	NHDF-neo	bronchial:	n/a
3	chr12:9452226-9452276	HAEpiC	amniotic membrane:	n/a
4	chr12:9478906-9478956	NHDF-neo	bronchial:	n/a
5	chr12:9436242-9436292	K562	blood:	n/a
6	chr12:9436329-9436379	HCT-116	colon:	n/a
7	chr12:9478906-9478956	H1-hESC	embryonic stem cell:	embryo
8	chr12:9436329-9436379	A549	lung:	n/a
9	chr12:9444815-9444865	AoSMC	blood vessel:	n/a
10	chr12:9436329-9436379	PFSK-1	brain:	n/a
11	chr12:9467392-9467442	Hela-S3	cervix:	n/a
12	chr12:9446851-9446901	ovcar-3	ovarian:	n/a
13	chr12:9436616-9436666	HL-60	blood:	n/a
14	chr12:9486542-9486592	HCF	heart:	n/a
15	chr12:9517562-9517612	NT2-D1	testis:	n/a
16	chr12:9439804-9439854	HUVEC	blood vessel:	n/a
17	chr12:9444815-9444865	HIPEpiC	eye:	n/a
18	chr12:9501783-9501833	PANC-1	pancreas:	n/a
19	chr12:9436248-9436298	SK-N-MC	brain:	n/a
20	chr12:9452224-9452274	NB4	blood:	n/a
21	chr12:9437009-9437059	HAEpiC	amniotic membrane:	n/a
22	chr12:9478612-9478662	HCT-116	colon:	n/a
23	chr12:9436242-9436292	BJ	skin:	n/a
24	chr12:9478906-9478956	AoSMC	blood vessel:	n/a
25	chr12:9444815-9444865	HRCEpiC	kidney:	n/a
26	chr12:9436248-9436298	GM19239	blood:	n/a
27	chr12:9493259-9493309	GM12891	blood:	n/a
28	chr12:9489057-9489107	AG10803	skin:	n/a
29	chr12:9436329-9436379	ovcar-3	ovarian:	n/a
30	chr12:9501783-9501833	HNPCEpiC	eye:	n/a
31	chr12:9517562-9517612	NHDF-neo	bronchial:	n/a
32	chr12:9501845-9501895	U87	brain:	n/a
33	chr12:9439804-9439854	BE2_C	brain:	n/a
34	chr12:9501845-9501895	HNPCEpiC	eye:	n/a
35	chr12:9478627-9478677	SK-N-SH_RA	brain:	n/a
36	chr12:9453547-9453597	SK-N-MC	brain:	n/a
37	chr12:9436621-9436671	AG04449	skin:	fetal
38	chr12:9501915-9501965	HepG2	liver:	n/a
39	chr12:9444815-9444865	NT2-D1	testis:	n/a
40	chr12:9436248-9436298	Jurkat	blood:	n/a
41	chr12:9479566-9479616	GM19239	blood:	n/a
42	chr12:9446832-9446882	A549	lung:	n/a
43	chr12:9478627-9478677	Hela-S3	cervix:	n/a
44	chr12:9444815-9444865	AG09319	gingival:	n/a
45	chr12:9436616-9436666	NH-A	brain:	n/a
46	chr12:9436329-9436379	PrEC	prostate:	n/a
47	chr12:9434399-9434449	NHBE	bronchial:	n/a
48	chr12:9489057-9489107	HNPCEpiC	eye:	n/a
49	chr12:9501845-9501895	HEK293	kidney:	embryo
50	chr12:9452226-9452276	SK-N-SH_RA	brain:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:9436030..9436711-chr12:9600583..9601103,2	HCT-116	colon:
2	chr12:9431995..9434015-chr12:9800546..9802203,2	MCF-7	breast:
3	chr12:9225166..9226787-chr12:9475945..9478723,2	MCF-7	breast:
4	chr12:9483413..9484009-chr12:9524583..9525215,2	MCF-7	breast:
5	chr12:9483454..9485642-chr12:9487208..9489749,3	K562	blood:
6	chr12:9471764..9473665-chr12:9564371..9566160,2	MCF-7	breast:
7	chr12:9492332..9494947-chr12:9501072..9502931,2	MCF-7	breast:
8	chr12:9483454..9485642-chr12:9487208..9489749,3	K562	blood:
9	chr12:9216104..9218306-chr12:9470179..9473467,3	MCF-7	breast:
10	chr12:9512017..9514493-chr12:9517939..9520276,2	MCF-7	breast:
11	chr12:9471846..9472542-chr12:9564639..9565202,2	MCF-7	breast:
12	chr12:9483967..9484695-chr12:9530892..9531873,3	MCF-7	breast:
13	chr12:9215856..9217597-chr12:9482273..9484056,2	MCF-7	breast:
14	chr12:9284631..9285460-chr12:9432685..9433670,3	MCF-7	breast:
15	chr11:62379397..62380044-chr12:9496046..9496903,2	HCT-116	colon:
16	chr12:9426747..9429597-chr12:9429959..9432578,2	K562	blood:
17	chr12:9522809..9525392-chr12:9798242..9800347,2	K562	blood:
18	chr12:9475880..9477662-chr12:9479960..9482900,2	K562	blood:
19	chr12:9514676..9517481-chr12:9908794..9910668,2	K562	blood:
20	chr12:9216794..9217363-chr12:9524530..9525508,3	MCF-7	breast:
21	chr12:9516871..9518767-chr12:9528942..9530878,2	MCF-7	breast:
22	chr12:9431917..9434887-chr12:9485752..9487325,2	MCF-7	breast:
23	chr12:9284806..9285460-chr12:9433144..9433670,2	MCF-7	breast:
24	chr12:9483413..9484009-chr12:9524583..9525215,2	MCF-7	breast:
25	chr12:9216318..9217819-chr12:9520696..9522982,2	MCF-7	breast:
26	chr12:9436173..9436735-chr12:31226434..31227168,3	Hela-S3	cervix:
27	chr12:9216487..9217272-chr12:9471486..9472478,2	MCF-7	breast:
28	chr12:9499156..9500827-chr12:9501599..9503470,2	MCF-7	breast:
29	chr12:9216106..9218386-chr12:9489612..9493915,4	MCF-7	breast:
30	chr12:9215714..9219195-chr12:9470456..9473261,3	MCF-7	breast:
31	chr12:9435913..9436700-chr12:31226425..31227148,3	HCT-116	colon:
32	chr12:9494429..9497191-chr12:9497385..9498990,2	MCF-7	breast:
33	chr12:9431917..9434887-chr12:9485752..9487325,2	MCF-7	breast:
34	chr12:9514472..9517285-chr12:9517571..9520331,3	K562	blood:
35	chr12:9423398..9426359-chr12:9434637..9436174,2	K562	blood:
36	chr12:9485621..9488613-chr17:57864279..57867030,2	MCF-7	breast:
37	chr12:9475880..9477662-chr12:9479960..9482900,2	K562	blood:
38	chr12:9492767..9495377-chr12:9497278..9499065,2	K562	blood:
39	chr12:9493453..9495524-chr12:9502233..9505001,2	K562	blood:
40	chr12:9426602..9429608-chr12:9430197..9433298,3	MCF-7	breast:
41	chr12:9423490..9426134-chr12:9432405..9434234,2	MCF-7	breast:
42	chr12:9428390..9430208-chr12:9433960..9436399,2	K562	blood:
43	chr12:9492767..9495377-chr12:9497278..9499065,2	K562	blood:
44	chr12:9483381..9483965-chr12:9531043..9531743,2	MCF-7	breast:
45	chr12:9494429..9497191-chr12:9497385..9498990,2	MCF-7	breast:
46	chr12:9493453..9495524-chr12:9502233..9505001,2	K562	blood:
47	chr12:9423398..9429968-chr12:9431078..9436174,6	K562	blood:
48	chr12:9436150..9437103-chr12:9600374..9601086,2	Hela-S3	cervix:
49	chr12:9499156..9500827-chr12:9501599..9503470,2	MCF-7	breast:
50	chr12:9492332..9494947-chr12:9501072..9502931,2	MCF-7	breast:

(count:39 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC2D-5	chr12:9504271-9504480	XLOC_009651
2	lnc-PZP-10	chr12:9486480-9486891	NONHSAT026583
3	lnc-CLEC2D-7	chr12:9493053-9493304	XLOC_009649
4	lnc-KLRG1-3	chr12:9438394-9438514	l_599_chr12:9406531-9439851_testes
5	lnc-PZP-10	chr12:9500060-9500507	NONHSAT026583
6	lnc-KLRG1-7	chr12:9469938-9470103	NONHSAT026402
7	lnc-CLEC2D-6	chr12:9499309-9499722	XLOC_009650
8	lnc-KLRG1-3	chr12:9439608-9439851	l_599_chr12:9406531-9439851_testes
9	lnc-PZP-4	chr12:9519832-9519991	XLOC_010009
10	lnc-PZP-10	chr12:9494143-9494640	NONHSAT026583
11	lnc-KLRG1-7	chr12:9470564-9470619	NONHSAT026402
12	lnc-CLEC2D-5	chr12:9502564-9502713	NONHSAT026731
13	lnc-PZP-10	chr12:9502714-9503413	NONHSAT026583
14	lnc-CLEC2D-6	chr12:9500555-9500599	XLOC_009650
15	lnc-CLEC2D-3	chr12:9520060-9522192	ENSG00000260423.1
16	lnc-PZP-11	chr12:9524266-9524628	NONHSAT026813
17	lnc-KLRG1-3	chr12:9435526-9435579	l_599_chr12:9406531-9439851_testes
18	lnc-CLEC2D-5	chr12:9504271-9504944	NONHSAT026731
19	lnc-CLEC2D-4	chr12:9519787-9520002	XLOC_009652
20	lnc-PZP-10	chr12:9489902-9490170	NONHSAT026583
21	lnc-KLRG1-6	chr12:9436616-9436729	NONHSAT026397
22	lnc-CLEC2D-3	chr12:9520084-9522661	NONHSAT026811
23	lnc-PZP-9	chr12:9459569-9459783	expReg_chr12_975_-
24	lnc-PZP-10	chr12:9495983-9496596	NONHSAT026583
25	lnc-PZP-10	chr12:9489581-9489812	NONHSAT026583
26	lnc-CLEC2D-6	chr12:9498751-9498941	NONHSAT026706
27	lnc-CLEC2D-4	chr12:9518908-9519370	XLOC_009652
28	lnc-KLRG1-6	chr12:9436255-9436377	NONHSAT026396
29	lnc-KLRG1-6	chr12:9465608-9465837	NONHSAT026396
30	lnc-KLRG1-6	chr12:9440798-9440849	NONHSAT026397
31	lnc-CLEC2D-6	chr12:9500409-9501023	NONHSAT026706
32	lnc-CLEC2D-6	chr12:9499308-9499722	NONHSAT026706
33	lnc-PZP-4	chr12:9516719-9517139	XLOC_010009
34	lnc-PZP-10	chr12:9499320-9499524	NONHSAT026583
35	lnc-KLRG1-6	chr12:9436268-9436492	NONHSAT026397
36	lnc-CLEC2D-5	chr12:9502422-9502713	XLOC_009651
37	lnc-CLEC2D-7	chr12:9492506-9492537	XLOC_009649
38	lnc-PZP-10	chr12:9495275-9495398	NONHSAT026583
39	lnc-KLRG1-7	chr12:9469448-9469503	NONHSAT026402

No data

Variant related genes	Relation type
ENSG00000255753	TF binding region
ENSG00000111788	TF binding region
ENSG00000212440	TF binding region
A2MP1	TF binding region
ENSG00000260423	TF binding region
ENSG00000255753	CpG island
ENSG00000111788	CpG island
ENSG00000212440	CpG island
A2MP1	CpG island
ENSG00000260423	CpG island
ENSG00000214826	chromatin interactions
ENSG00000256442	chromatin interactions
ENSG00000149499	chromatin interactions
ENSG00000245105	chromatin interactions
ENSG00000260423	chromatin interactions
ENSG00000149489	chromatin interactions
ENSG00000111788	chromatin interactions
ENSG00000013573	chromatin interactions
ENSG00000245614	chromatin interactions
ENSG00000256069	chromatin interactions
ENSG00000256594	chromatin interactions
ENSG00000108813	chromatin interactions
ENSG00000214851	chromatin interactions
CNN3	miRNA target sites
ANXA8L1	miRNA target sites

Extended variants
information (count: 2447 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2447 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377431879	chr12:9431369-9431370	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181495102	chr12:9431378-9431379	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs185921461	chr12:9431380-9431381	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs6487735	chr12:9431402-9431403	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs199967362	chr12:9431501-9431502	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs75514849	chr12:9431515-9431516	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111800811	chr12:9431533-9431534	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149232786	chr12:9431580-9431581	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189993310	chr12:9431582-9431583	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545667897	chr12:9431642-9431643	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs79059515	chr12:9431655-9431656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs139733919	chr12:9431756-9431757	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs5796344	chr12:9431771-9431772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs397850695	chr12:9431778-9431779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs79590337	chr12:9431789-9431790	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74468853	chr12:9431862-9431863	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs181281613	chr12:9431916-9431917	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs185016597	chr12:9431931-9431932	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs566237874	chr12:9431993-9431994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534712742	chr12:9432054-9432055	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs147200508	chr12:9432077-9432078	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs74061039	chr12:9432195-9432196	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542317737	chr12:9432230-9432231	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs12423201	chr12:9432280-9432281	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs189874062	chr12:9432307-9432308	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs115927851	chr12:9432314-9432315	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs201737282	chr12:9432389-9432390	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs148660914	chr12:9432529-9432530	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs182864397	chr12:9432578-9432579	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs374395761	chr12:9432580-9432581	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs142371047	chr12:9432596-9432597	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs79578060	chr12:9432598-9432599	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs188618235	chr12:9432652-9432653	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs564623051	chr12:9432709-9432710	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs570524651	chr12:9432718-9432719	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs374756623	chr12:9432736-9432737	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs192361677	chr12:9432741-9432742	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs183322493	chr12:9432769-9432770	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs546042727	chr12:9432784-9432785	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs10771463	chr12:9432789-9432790	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs550091957	chr12:9432823-9432824	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs10771464	chr12:9432850-9432851	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs187615334	chr12:9432895-9432896	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs10743632	chr12:9432903-9432904	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs553366089	chr12:9432928-9432929	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs10743633	chr12:9432952-9432953	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs10743634	chr12:9432988-9432989	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs11049986	chr12:9433057-9433058	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs150849936	chr12:9433091-9433092	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs139254212	chr12:9433160-9433161	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1213 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9429200-9435200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:9429800-9435400	Weak transcription	NHEK	skin
3	chr12:9432200-9432400	Enhancers	Liver	Liver
4	chr12:9432400-9432800	Flanking Active TSS	Liver	Liver
5	chr12:9432800-9434200	Enhancers	Liver	Liver
6	chr12:9433800-9434000	Bivalent Enhancer	A549	lung
7	chr12:9433800-9434200	Enhancers	HepG2	liver
8	chr12:9434200-9435400	Weak transcription	HepG2	liver
9	chr12:9434200-9435800	Weak transcription	Liver	Liver
10	chr12:9435000-9435600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:9435200-9435400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:9435200-9435600	Enhancers	Primary T cells from cord blood	blood
13	chr12:9435200-9435600	Enhancers	GM12878-XiMat	blood
14	chr12:9435200-9435800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:9435200-9435800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:9435200-9435800	Enhancers	Fetal Lung	lung
17	chr12:9435200-9435800	Enhancers	NHDF-Ad	bronchial
18	chr12:9435200-9436000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:9435200-9436400	Active TSS	Fetal Brain Male	brain
20	chr12:9435400-9435600	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr12:9435400-9435600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:9435400-9435600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:9435400-9435600	Enhancers	NHEK	skin
24	chr12:9435400-9435800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:9435400-9435800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:9435400-9435800	Enhancers	Brain Substantia Nigra	brain
27	chr12:9435400-9435800	Enhancers	Dnd41	blood
28	chr12:9435400-9435800	Enhancers	HepG2	liver
29	chr12:9435400-9436000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:9435400-9436200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:9435400-9436200	Enhancers	Fetal Heart	heart
32	chr12:9435400-9436400	Enhancers	Hela-S3	cervix
33	chr12:9435400-9437800	Active TSS	A549	lung
34	chr12:9435400-9464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:9435600-9435800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:9435600-9435800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:9435600-9435800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr12:9435600-9436000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:9435600-9436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:9435600-9436000	Enhancers	Colon Smooth Muscle	Colon
41	chr12:9435600-9436000	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:9435600-9436000	Weak transcription	NHEK	skin
43	chr12:9435600-9436200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr12:9435600-9436400	Active TSS	Primary T cells from cord blood	blood
45	chr12:9435600-9437800	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr12:9435600-9437800	Active TSS	GM12878-XiMat	blood
47	chr12:9435800-9436000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:9435800-9436000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:9435800-9436000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr12:9435800-9436000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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