Variant report

Variant	nsv898740
Chromosome Location	chr12:9436446-9546962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2240)
CpG islands
(count:1588)
Chromatin interactive
region (count:57)
LncRNA
region (count:42)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2240 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:9495326-9496012	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:9531284-9531477	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:9493327-9493396	K562	blood:	n/a	n/a
4	ATF1	chr12:9517037-9517719	K562	blood:	n/a	n/a
5	ATF1	chr12:9515879-9516104	K562	blood:	n/a	n/a
6	ATF1	chr12:9499390-9499755	K562	blood:	n/a	n/a
7	ATF1	chr12:9493010-9493521	K562	blood:	n/a	n/a
8	ATF1	chr12:9492605-9492785	K562	blood:	n/a	n/a
9	ATF1	chr12:9436462-9436639	K562	blood:	n/a	n/a
10	ATF1	chr12:9520485-9520799	K562	blood:	n/a	n/a
11	ATF1	chr12:9519822-9520248	K562	blood:	n/a	n/a
12	ATF1	chr12:9500046-9500362	K562	blood:	n/a	n/a
13	ATF2	chr12:9515316-9516084	GM12878	blood:	n/a	n/a
14	ATF2	chr12:9483724-9484288	GM12878	blood:	n/a	n/a
15	ATF2	chr12:9514231-9515229	GM12878	blood:	n/a	n/a
16	ATF2	chr12:9514144-9518351	GM12878	blood:	n/a	n/a
17	ATF2	chr12:9483870-9484266	GM12878	blood:	n/a	n/a
18	ATF2	chr12:9516298-9518464	GM12878	blood:	n/a	n/a
19	BACH1	chr12:9507019-9507395	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr12:9545558-9545792	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr12:9496419-9496420	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr12:9490118-9490128	K562	blood:	n/a	n/a
23	BACH1	chr12:9516711-9516911	K562	blood:	n/a	n/a
24	BACH1	chr12:9486740-9486998	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr12:9436195-9436514	GM12878	blood:	n/a	n/a
26	BATF	chr12:9516696-9517884	GM12878	blood:	n/a	n/a
27	BATF	chr12:9514492-9515074	GM12878	blood:	n/a	n/a
28	BATF	chr12:9442824-9443058	GM12878	blood:	n/a	n/a
29	BATF	chr12:9515676-9516129	GM12878	blood:	n/a	chr12:9515939-9515950
30	BATF	chr12:9507017-9507310	GM12878	blood:	n/a	n/a
31	BATF	chr12:9436520-9437233	GM12878	blood:	n/a	n/a
32	BATF	chr12:9506976-9507254	GM12878	blood:	n/a	n/a
33	BATF	chr12:9437291-9437995	GM12878	blood:	n/a	n/a
34	BATF	chr12:9516818-9517792	GM12878	blood:	n/a	n/a
35	BATF	chr12:9437518-9437975	GM12878	blood:	n/a	n/a
36	BATF	chr12:9442887-9443109	GM12878	blood:	n/a	n/a
37	BCL11A	chr12:9514518-9515013	GM12878	blood:	n/a	chr12:9514548-9514557
38	BCL11A	chr12:9436867-9437442	GM12878	blood:	n/a	chr12:9436944-9436953
39	BCL11A	chr12:9437585-9438094	GM12878	blood:	n/a	chr12:9438052-9438061
40	BCL11A	chr12:9516896-9517726	GM12878	blood:	n/a	n/a
41	BCL11A	chr12:9506964-9507320	GM12878	blood:	n/a	n/a
42	BCL11A	chr12:9436252-9436488	GM12878	blood:	n/a	chr12:9436252-9436261
43	BCL11A	chr12:9436944-9437125	GM12878	blood:	n/a	chr12:9436944-9436953
44	BCL11A	chr12:9507015-9507175	GM12878	blood:	n/a	n/a
45	BCL11A	chr12:9436547-9436721	GM12878	blood:	n/a	n/a
46	BCL11A	chr12:9437489-9438007	GM12878	blood:	n/a	n/a
47	BCL11A	chr12:9514587-9514903	GM12878	blood:	n/a	n/a
48	BCL11A	chr12:9436213-9436749	GM12878	blood:	n/a	chr12:9436247-9436260 chr12:9436252-9436261 chr12:9436523-9436532
49	BCL11A	chr12:9516825-9517859	GM12878	blood:	n/a	n/a
50	BCL3	chr12:9514179-9515157	GM12878	blood:	n/a	chr12:9514548-9514557

(count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:9493259-9493309	ProgFib	skin:	n/a
2	chr12:9501915-9501965	PFSK-1	brain:	n/a
3	chr12:9493259-9493309	ProgFib	skin:	n/a
4	chr12:9501915-9501965	PFSK-1	brain:	n/a
5	chr12:9501915-9501965	A549	lung:	n/a
6	chr12:9489057-9489107	HUVEC	blood vessel:	n/a
7	chr12:9478627-9478677	PFSK-1	brain:	n/a
8	chr12:9489057-9489107	K562	blood:	n/a
9	chr12:9486542-9486592	HepG2	liver:	n/a
10	chr12:9467392-9467442	NH-A	brain:	n/a
11	chr12:9446832-9446882	PFSK-1	brain:	n/a
12	chr12:9478906-9478956	NHBE	bronchial:	n/a
13	chr12:9478906-9478956	AG04449	skin:	fetal
14	chr12:9437009-9437059	NH-A	brain:	n/a
15	chr12:9478627-9478677	HNPCEpiC	eye:	n/a
16	chr12:9544329-9544379	HCPEpiC	choroid plexus:	n/a
17	chr12:9453547-9453597	PrEC	prostate:	n/a
18	chr12:9501845-9501895	HRCEpiC	kidney:	n/a
19	chr12:9501915-9501965	SK-N-SH_RA	brain:	n/a
20	chr12:9444815-9444865	HCM	heart:	n/a
21	chr12:9467764-9467814	HepG2	liver:	n/a
22	chr12:9436616-9436666	SKMC	muscle:	n/a
23	chr12:9452224-9452274	PrEC	prostate:	n/a
24	chr12:9501845-9501895	IMR90	lung:	fetal
25	chr12:9446913-9446963	GM12878	blood:	n/a
26	chr12:9479566-9479616	GM06990	blood:	n/a
27	chr12:9478627-9478677	AG04450	lung:	fetal
28	chr12:9486542-9486592	HNPCEpiC	eye:	n/a
29	chr12:9439804-9439854	HMEC	breast:	n/a
30	chr12:9436616-9436666	H1-hESC	embryonic stem cell:	embryo
31	chr12:9478612-9478662	HCF	heart:	n/a
32	chr12:9446913-9446963	HCF	heart:	n/a
33	chr12:9486542-9486592	Jurkat	blood:	n/a
34	chr12:9501783-9501833	HepG2	liver:	n/a
35	chr12:9446913-9446963	SAEC	small airway:	n/a
36	chr12:9453547-9453597	U87	brain:	n/a
37	chr12:9467764-9467814	T-47D	breast:	n/a
38	chr12:9479566-9479616	AG09309	skin:	n/a
39	chr12:9501845-9501895	HRE	kidney:	n/a
40	chr12:9452224-9452274	Jurkat	blood:	n/a
41	chr12:9452224-9452274	BE2_C	brain:	n/a
42	chr12:9439804-9439854	Jurkat	blood:	n/a
43	chr12:9467392-9467442	HMEC	breast:	n/a
44	chr12:9446832-9446882	HRE	kidney:	n/a
45	chr12:9444815-9444865	NHDF-neo	bronchial:	n/a
46	chr12:9489057-9489107	PFSK-1	brain:	n/a
47	chr12:9544329-9544379	HNPCEpiC	eye:	n/a
48	chr12:9544329-9544379	GM06990	blood:	n/a
49	chr12:9501783-9501833	HEK293	kidney:	embryo
50	chr12:9452226-9452276	SK-N-MC	brain:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:9499156..9500827-chr12:9501599..9503470,2	MCF-7	breast:
2	chr12:9492767..9495377-chr12:9497278..9499065,2	K562	blood:
3	chr12:9215277..9217705-chr12:9463276..9464811,2	MCF-7	breast:
4	chr12:9483967..9484695-chr12:9530892..9531873,3	MCF-7	breast:
5	chr12:9483454..9485642-chr12:9487208..9489749,3	K562	blood:
6	chr12:9436173..9436735-chr12:31226434..31227168,3	Hela-S3	cervix:
7	chr12:9431917..9434887-chr12:9485752..9487325,2	MCF-7	breast:
8	chr12:9436030..9436711-chr12:9600583..9601103,2	HCT-116	colon:
9	chr12:9436150..9437103-chr12:9600374..9601086,2	Hela-S3	cervix:
10	chr12:9483381..9483965-chr12:9531043..9531743,2	MCF-7	breast:
11	chr12:9483413..9484009-chr12:9524583..9525215,2	MCF-7	breast:
12	chr12:9483381..9483965-chr12:9531043..9531743,2	MCF-7	breast:
13	chr12:9536132..9537679-chr12:9542165..9544182,2	MCF-7	breast:
14	chr12:9215714..9219195-chr12:9470456..9473261,3	MCF-7	breast:
15	chr12:9216318..9217819-chr12:9520696..9522982,2	MCF-7	breast:
16	chr12:9536927..9538446-chr12:9539967..9542011,2	K562	blood:
17	chr12:9492767..9495377-chr12:9497278..9499065,2	K562	blood:
18	chr12:9216104..9218306-chr12:9470179..9473467,3	MCF-7	breast:
19	chr12:9516871..9518767-chr12:9528942..9530878,2	MCF-7	breast:
20	chr12:9531253..9531816-chr12:9860516..9861214,2	MCF-7	breast:
21	chr12:9216106..9218386-chr12:9489612..9493915,4	MCF-7	breast:
22	chr12:9526563..9529363-chr12:9530052..9533405,3	MCF-7	breast:
23	chr12:9225166..9226787-chr12:9475945..9478723,2	MCF-7	breast:
24	chr12:9485621..9488613-chr17:57864279..57867030,2	MCF-7	breast:
25	chr12:9435913..9436700-chr12:31226425..31227148,3	HCT-116	colon:
26	chr12:9499156..9500827-chr12:9501599..9503470,2	MCF-7	breast:
27	chr12:9471846..9472542-chr12:9564639..9565202,2	MCF-7	breast:
28	chr12:9536132..9537679-chr12:9542165..9544182,2	MCF-7	breast:
29	chr12:9483454..9485642-chr12:9487208..9489749,3	K562	blood:
30	chr12:9514472..9517285-chr12:9517571..9520331,3	K562	blood:
31	chr12:9492332..9494947-chr12:9501072..9502931,2	MCF-7	breast:
32	chr12:9532106..9535030-chr12:9800116..9802366,2	MCF-7	breast:
33	chr12:9494429..9497191-chr12:9497385..9498990,2	MCF-7	breast:
34	chr11:62379397..62380044-chr12:9496046..9496903,2	HCT-116	colon:
35	chr12:9483967..9484695-chr12:9530892..9531873,3	MCF-7	breast:
36	chr12:9526563..9529363-chr12:9530052..9533405,3	MCF-7	breast:
37	chr12:9216794..9217363-chr12:9524530..9525508,3	MCF-7	breast:
38	chr12:9536927..9538446-chr12:9539967..9542011,2	K562	blood:
39	chr12:9436222..9437012-chr17:48045663..48046428,2	NB4	blood:
40	chr12:9492332..9494947-chr12:9501072..9502931,2	MCF-7	breast:
41	chr12:9471764..9473665-chr12:9564371..9566160,2	MCF-7	breast:
42	chr12:9539959..9542936-chr12:9543055..9546745,3	K562	blood:
43	chr12:9493453..9495524-chr12:9502233..9505001,2	K562	blood:
44	chr12:9493453..9495524-chr12:9502233..9505001,2	K562	blood:
45	chr12:9530894..9532008-chr12:9621312..9622244,4	MCF-7	breast:
46	chr12:9483413..9484009-chr12:9524583..9525215,2	MCF-7	breast:
47	chr12:9475880..9477662-chr12:9479960..9482900,2	K562	blood:
48	chr12:9216487..9217272-chr12:9471486..9472478,2	MCF-7	breast:
49	chr12:9530855..9531819-chr12:9772155..9773338,3	MCF-7	breast:
50	chr12:9516871..9518767-chr12:9528942..9530878,2	MCF-7	breast:

(count:42 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC2D-7	chr12:9492506-9492537	XLOC_009649
2	lnc-CLEC2D-5	chr12:9502564-9502713	NONHSAT026731
3	lnc-PZP-10	chr12:9489902-9490170	NONHSAT026583
4	lnc-CLEC2D-6	chr12:9499309-9499722	XLOC_009650
5	lnc-PZP-10	chr12:9494143-9494640	NONHSAT026583
6	lnc-PZP-10	chr12:9486480-9486891	NONHSAT026583
7	lnc-KLRG1-6	chr12:9465608-9465837	NONHSAT026396
8	lnc-CLEC2D-6	chr12:9500555-9500599	XLOC_009650
9	lnc-PZP-10	chr12:9489581-9489812	NONHSAT026583
10	lnc-KLRG1-3	chr12:9438394-9438514	l_599_chr12:9406531-9439851_testes
11	lnc-KLRG1-6	chr12:9436268-9436492	NONHSAT026397
12	lnc-KLRG1-7	chr12:9469448-9469503	NONHSAT026402
13	lnc-PZP-10	chr12:9495983-9496596	NONHSAT026583
14	lnc-KLRG1-6	chr12:9436616-9436729	NONHSAT026397
15	lnc-CLEC2D-6	chr12:9499308-9499722	NONHSAT026706
16	lnc-KLRG1-7	chr12:9470564-9470619	NONHSAT026402
17	lnc-CLEC2D-3	chr12:9520060-9522192	ENSG00000260423.1
18	lnc-CLEC2D-3	chr12:9528409-9528682	NONHSAT026815
19	lnc-PZP-10	chr12:9495275-9495398	NONHSAT026583
20	lnc-KLRG1-6	chr12:9440798-9440849	NONHSAT026397
21	lnc-PZP-4	chr12:9516719-9517139	XLOC_010009
22	lnc-CLEC2D-6	chr12:9498751-9498941	NONHSAT026706
23	lnc-CLEC2D-4	chr12:9519787-9520002	XLOC_009652
24	lnc-PZP-11	chr12:9524266-9524628	NONHSAT026813
25	lnc-KLRG1-7	chr12:9469938-9470103	NONHSAT026402
26	lnc-PZP-9	chr12:9459569-9459783	expReg_chr12_975_-
27	lnc-CLEC2D-7	chr12:9493053-9493304	XLOC_009649
28	lnc-CLEC2D-5	chr12:9502422-9502713	XLOC_009651
29	lnc-KLRG1-3	chr12:9439608-9439851	l_599_chr12:9406531-9439851_testes
30	lnc-PZP-11	chr12:9533948-9534263	NONHSAT026813
31	lnc-CLEC2D-3	chr12:9520084-9522661	NONHSAT026811
32	lnc-CLEC2D-3	chr12:9528454-9528682	ENSG00000260423.1
33	lnc-CLEC2D-6	chr12:9500409-9501023	NONHSAT026706
34	lnc-CLEC2D-3	chr12:9528409-9528682	NONHSAT026814
35	lnc-CLEC2D-5	chr12:9504271-9504944	NONHSAT026731
36	lnc-CLEC2D-4	chr12:9518908-9519370	XLOC_009652
37	lnc-PZP-4	chr12:9519832-9519991	XLOC_010009
38	lnc-PZP-10	chr12:9500060-9500507	NONHSAT026583
39	lnc-CLEC2D-3	chr12:9529770-9529807	NONHSAT026815
40	lnc-PZP-10	chr12:9502714-9503413	NONHSAT026583
41	lnc-PZP-10	chr12:9499320-9499524	NONHSAT026583
42	lnc-CLEC2D-5	chr12:9504271-9504480	XLOC_009651

No data

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

Extended variants
information (count: 3000 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3000 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28653187	chr12:9436446-9436447	Active TSS Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs549856416	chr12:9436460-9436461	Active TSS Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs12825074	chr12:9436472-9436473	Active TSS Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs12825099	chr12:9436515-9436516	Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs146323988	chr12:9436529-9436530	Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs3864912	chr12:9436586-9436587	Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs78176743	chr12:9436617-9436618	Active TSS Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs3864913	chr12:9436619-9436620	Active TSS Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs2433011	chr12:9436635-9436636	Active TSS Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs141108594	chr12:9436705-9436706	Active TSS Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs202099377	chr12:9436760-9436761	Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374500669	chr12:9436866-9436867	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2429869	chr12:9436875-9436876	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535131507	chr12:9436991-9436992	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2433010	chr12:9437006-9437007	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181161050	chr12:9437042-9437043	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs3882943	chr12:9437043-9437044	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs397833764	chr12:9437155-9437156	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61916195	chr12:9437216-9437217	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs397833763	chr12:9437217-9437218	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs28712430	chr12:9437221-9437222	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs2553176	chr12:9437259-9437260	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs61916197	chr12:9437336-9437337	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374627795	chr12:9437386-9437387	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs3874120	chr12:9437428-9437429	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs113334835	chr12:9437482-9437483	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2553174	chr12:9437570-9437571	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12425975	chr12:9437614-9437615	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs2536741	chr12:9437694-9437695	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201548374	chr12:9437707-9437708	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs199994668	chr12:9437749-9437750	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs200853700	chr12:9437755-9437756	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs370643083	chr12:9437778-9437779	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs201658681	chr12:9437826-9437827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374308131	chr12:9437946-9437947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368663004	chr12:9438014-9438015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370798814	chr12:9438066-9438067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2553170	chr12:9438094-9438095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2553166	chr12:9438490-9438491	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs200119573	chr12:9438565-9438566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201220005	chr12:9438658-9438659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61916199	chr12:9438722-9438723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2433009	chr12:9438929-9438930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113787381	chr12:9438953-9438954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201703850	chr12:9439222-9439223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61916200	chr12:9439257-9439258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200340789	chr12:9439294-9439295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542882702	chr12:9439351-9439352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553164058	chr12:9439395-9439396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573062621	chr12:9439399-9439400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	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
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
Incontinentia Pigmenti	22033527	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Cancer	21272361	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:1287 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9435400-9437800	Active TSS	A549	lung
2	chr12:9435400-9464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:9435600-9437800	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr12:9435600-9437800	Active TSS	GM12878-XiMat	blood
5	chr12:9435800-9436600	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr12:9435800-9437000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:9435800-9437000	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr12:9435800-9437000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:9435800-9437000	Active TSS	Brain Anterior Caudate	brain
10	chr12:9435800-9437000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:9435800-9437000	Active TSS	Stomach Smooth Muscle	stomach
12	chr12:9435800-9437200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:9435800-9437200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:9435800-9437200	Active TSS	Brain Substantia Nigra	brain
15	chr12:9435800-9437200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:9435800-9437200	Active TSS	NHDF-Ad	bronchial
17	chr12:9435800-9437400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:9435800-9437400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:9435800-9437400	Active TSS	Fetal Brain Female	brain
20	chr12:9435800-9437600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:9435800-9437600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr12:9435800-9437800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:9435800-9437800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:9435800-9437800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:9435800-9437800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:9435800-9437800	Active TSS	K562	blood
27	chr12:9436000-9436600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:9436000-9436800	Active TSS	Placenta	Placenta
29	chr12:9436000-9437000	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr12:9436000-9437000	Active TSS	Primary B cells from cord blood	blood
31	chr12:9436000-9437000	Active TSS	Primary B cells from peripheral blood	blood
32	chr12:9436000-9437000	Active TSS	Primary T cells fromperipheralblood	blood
33	chr12:9436000-9437000	Active TSS	Primary hematopoietic stem cells	blood
34	chr12:9436000-9437000	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr12:9436000-9437000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr12:9436000-9437000	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr12:9436000-9437000	Active TSS	Adipose Nuclei	Adipose
38	chr12:9436000-9437000	Active TSS	Brain Angular Gyrus	brain
39	chr12:9436000-9437000	Active TSS	Brain Cingulate Gyrus	brain
40	chr12:9436000-9437000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr12:9436000-9437000	Active TSS	Fetal Intestine Small	intestine
42	chr12:9436000-9437000	Active TSS	Fetal Stomach	stomach
43	chr12:9436000-9437000	Active TSS	Ovary	ovary
44	chr12:9436000-9437000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr12:9436000-9437000	Active TSS	Right Atrium	heart
46	chr12:9436000-9437000	Active TSS	HUVEC	blood vessel
47	chr12:9436000-9437000	Active TSS	NHEK	skin
48	chr12:9436000-9437200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:9436000-9437200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:9436000-9437200	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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