Variant report

Variant	esv2757489
Chromosome Location	chr12:9583455-9810764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2692)
CpG islands
(count:2320)
Chromatin interactive
region (count:43)
LncRNA
region (count:70)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2692 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:9621679-9621874	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:9801119-9801566	K562	blood:	n/a	n/a
3	ARID3A	chr12:9741257-9741854	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:9800612-9800810	K562	blood:	n/a	n/a
5	ARID3A	chr12:9800723-9800744	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:9740655-9741170	K562	blood:	n/a	n/a
7	ARID3A	chr12:9786933-9787094	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:9804161-9804548	K562	blood:	n/a	n/a
9	ARID3A	chr12:9797900-9798348	K562	blood:	n/a	n/a
10	ARID3A	chr12:9743025-9743373	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:9799790-9799971	K562	blood:	n/a	n/a
12	ATF1	chr12:9797667-9798179	K562	blood:	n/a	n/a
13	ATF1	chr12:9786941-9787057	K562	blood:	n/a	n/a
14	ATF1	chr12:9799552-9800039	K562	blood:	n/a	n/a
15	ATF1	chr12:9740572-9740926	K562	blood:	n/a	n/a
16	ATF2	chr12:9802124-9802733	GM12878	blood:	n/a	n/a
17	ATF2	chr12:9803197-9803780	GM12878	blood:	n/a	n/a
18	ATF2	chr12:9800639-9801969	GM12878	blood:	n/a	n/a
19	ATF2	chr12:9800087-9804473	GM12878	blood:	n/a	n/a
20	ATF3	chr12:9608285-9608446	K562	blood:	n/a	n/a
21	BACH1	chr12:9600477-9600495	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr12:9740595-9741065	K562	blood:	n/a	n/a
23	BACH1	chr12:9600846-9601058	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr12:9740652-9740897	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr12:9800007-9801259	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr12:9601742-9601759	K562	blood:	n/a	n/a
27	BATF	chr12:9600026-9601051	GM12878	blood:	n/a	n/a
28	BATF	chr12:9599040-9599656	GM12878	blood:	n/a	chr12:9599254-9599262
29	BATF	chr12:9802100-9802449	GM12878	blood:	n/a	n/a
30	BATF	chr12:9801352-9801608	GM12878	blood:	n/a	n/a
31	BATF	chr12:9623145-9623344	GM12878	blood:	n/a	n/a
32	BATF	chr12:9800792-9801207	GM12878	blood:	n/a	n/a
33	BATF	chr12:9599060-9599517	GM12878	blood:	n/a	chr12:9599254-9599262
34	BATF	chr12:9627071-9627414	GM12878	blood:	n/a	chr12:9627229-9627240
35	BATF	chr12:9801387-9801683	GM12878	blood:	n/a	n/a
36	BATF	chr12:9803326-9803679	GM12878	blood:	n/a	n/a
37	BATF	chr12:9594018-9594252	GM12878	blood:	n/a	n/a
38	BATF	chr12:9627069-9627370	GM12878	blood:	n/a	chr12:9627229-9627240
39	BATF	chr12:9803330-9803684	GM12878	blood:	n/a	n/a
40	BATF	chr12:9593967-9594189	GM12878	blood:	n/a	n/a
41	BCL11A	chr12:9599028-9599550	GM12878	blood:	n/a	n/a
42	BCL11A	chr12:9802129-9802426	GM12878	blood:	n/a	n/a
43	BCL11A	chr12:9803230-9803715	GM12878	blood:	n/a	n/a
44	BCL11A	chr12:9800813-9801182	GM12878	blood:	n/a	n/a
45	BCL11A	chr12:9599928-9600111	GM12878	blood:	n/a	n/a
46	BCL11A	chr12:9600454-9600822	GM12878	blood:	n/a	chr12:9600809-9600818
47	BCL11A	chr12:9803328-9803628	GM12878	blood:	n/a	n/a
48	BCL11A	chr12:9600546-9600932	GM12878	blood:	n/a	chr12:9600809-9600818 chr12:9600810-9600823
49	BCL11A	chr12:9800407-9801232	GM12878	blood:	n/a	chr12:9800683-9800696 chr12:9800565-9800578
50	BCL11A	chr12:9598941-9599450	GM12878	blood:	n/a	chr12:9599009-9599018

(count:2320 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:9722091-9722141	AG09319	gingival:	n/a
2	chr12:9600756-9600806	GM19239	blood:	n/a
3	chr12:9722091-9722141	AG09319	gingival:	n/a
4	chr12:9600756-9600806	GM19239	blood:	n/a
5	chr12:9800467-9800517	RPTEC	kidney:	n/a
6	chr12:9600801-9600851	HAEpiC	amniotic membrane:	n/a
7	chr12:9800467-9800517	SAEC	small airway:	n/a
8	chr12:9720090-9720140	AG10803	skin:	n/a
9	chr12:9800544-9800594	ovcar-3	ovarian:	n/a
10	chr12:9759653-9759703	HUVEC	blood vessel:	n/a
11	chr12:9600453-9600503	AG10803	skin:	n/a
12	chr12:9600941-9600991	NH-A	brain:	n/a
13	chr12:9600888-9600938	H1-hESC	embryonic stem cell:	embryo
14	chr12:9597637-9597687	BE2_C	brain:	n/a
15	chr12:9601149-9601199	BE2_C	brain:	n/a
16	chr12:9600801-9600851	HRE	kidney:	n/a
17	chr12:9605181-9605231	PrEC	prostate:	n/a
18	chr12:9720090-9720140	T-47D	breast:	n/a
19	chr12:9760326-9760376	NHBE	bronchial:	n/a
20	chr12:9800259-9800309	AG10803	skin:	n/a
21	chr12:9602245-9602295	HUVEC	blood vessel:	n/a
22	chr12:9600756-9600806	AG09309	skin:	n/a
23	chr12:9720090-9720140	NHDF-neo	bronchial:	n/a
24	chr12:9618783-9618833	AG04449	skin:	fetal
25	chr12:9600801-9600851	BJ	skin:	n/a
26	chr12:9600884-9600934	Caco-2	colon:	n/a
27	chr12:9600884-9600934	U87	brain:	n/a
28	chr12:9600888-9600938	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:9618783-9618833	A549	lung:	n/a
30	chr12:9800438-9800488	BJ	skin:	n/a
31	chr12:9723402-9723452	HRE	kidney:	n/a
32	chr12:9800446-9800496	ECC-1	luminal epithelium:	n/a
33	chr12:9600801-9600851	Jurkat	blood:	n/a
34	chr12:9760326-9760376	RPTEC	kidney:	n/a
35	chr12:9720090-9720140	NT2-D1	testis:	n/a
36	chr12:9800438-9800488	NH-A	brain:	n/a
37	chr12:9600886-9600936	MCF-7	breast:	n/a
38	chr12:9600886-9600936	PANC-1	pancreas:	n/a
39	chr12:9618783-9618833	GM12878	blood:	n/a
40	chr12:9600875-9600925	AG09319	gingival:	n/a
41	chr12:9801058-9801108	HMEC	breast:	n/a
42	chr12:9601161-9601211	HRPEpiC	eye:	n/a
43	chr12:9720090-9720140	HUVEC	blood vessel:	n/a
44	chr12:9760326-9760376	HMEC	breast:	n/a
45	chr12:9800619-9800669	HUVEC	blood vessel:	n/a
46	chr12:9757161-9757211	PFSK-1	brain:	n/a
47	chr12:9800467-9800517	Jurkat	blood:	n/a
48	chr12:9601161-9601211	SK-N-SH	brain:	n/a
49	chr12:9600801-9600851	Hela-S3	cervix:	n/a
50	chr12:9800818-9800868	U87	brain:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9786143..9793024-chr12:9797652..9803573,13	MCF-7	breast:
2	chr12:9620489..9621323-chr12:31206721..31207493,2	MCF-7	breast:
3	chr12:9810242..9813132-chr12:9813704..9817912,3	MCF-7	breast:
4	chr12:9799323..9802837-chr12:9803671..9808302,9	K562	blood:
5	chr12:9785588..9787603-chr12:9798282..9800898,2	MCF-7	breast:
6	chr12:9786666..9787301-chr12:9847546..9848373,2	MCF-7	breast:
7	chr12:9799292..9802850-chr12:9823422..9827161,3	MCF-7	breast:
8	chr12:9739995..9741756-chr12:9800822..9803051,2	K562	blood:
9	chr12:9799537..9802341-chr12:9814175..9817797,3	K562	blood:
10	chr12:9802769..9803667-chr6:36363146..36364143,2	NB4	blood:
11	chr12:9794237..9796835-chr12:9798704..9800341,2	MCF-7	breast:
12	chr12:9807372..9810375-chr12:9810947..9813641,3	K562	blood:
13	chr12:9740551..9742492-chr12:9759137..9760711,2	K562	blood:
14	chr12:9807121..9809524-chr12:9821740..9823295,2	K562	blood:
15	chr12:9530894..9532008-chr12:9621312..9622244,4	MCF-7	breast:
16	chr12:9798786..9803516-chr12:9803864..9807970,10	MCF-7	breast:
17	chr12:9801303..9803979-chr12:9875830..9877610,2	K562	blood:
18	chr12:9798786..9803516-chr12:9803864..9807970,10	MCF-7	breast:
19	chr12:9799323..9802837-chr12:9803671..9808302,9	K562	blood:
20	chr12:9807812..9809356-chr12:9838906..9841822,2	K562	blood:
21	chr12:9801031..9803712-chr12:9946954..9949811,3	K562	blood:
22	chr12:9785588..9787603-chr12:9798282..9800898,2	MCF-7	breast:
23	chr12:9785407..9787007-chr12:9930347..9932112,2	K562	blood:
24	chr12:9530855..9531819-chr12:9772155..9773338,3	MCF-7	breast:
25	chr12:9800923..9803675-chr12:9838767..9841892,3	MCF-7	breast:
26	chr12:9787751..9790027-chr12:9840631..9842655,2	MCF-7	breast:
27	chr12:9786143..9793024-chr12:9797652..9803573,13	MCF-7	breast:
28	chr12:9800782..9802831-chr12:9859086..9861954,2	MCF-7	breast:
29	chr12:9807912..9810115-chr12:9811259..9815129,3	MCF-7	breast:
30	chr12:9522809..9525392-chr12:9798242..9800347,2	K562	blood:
31	chr12:9799281..9800002-chr14:56409811..56410509,2	MCF-7	breast:
32	chr12:9436150..9437103-chr12:9600374..9601086,2	Hela-S3	cervix:
33	chr12:9620209..9621328-chr12:31206996..31207808,4	MCF-7	breast:
34	chr12:9786328..9788433-chr12:9788788..9791540,2	K562	blood:
35	chr12:9801129..9802680-chr12:9843178..9846016,2	K562	blood:
36	chr12:9436185..9436710-chr12:9599925..9600582,2	MCF-7	breast:
37	chr12:9802928..9804462-chr12:9806298..9808980,2	K562	blood:
38	chr12:9800783..9805047-chr12:9809567..9813940,5	K562	blood:
39	chr12:9600285..9602561-chr12:9801026..9803503,2	K562	blood:
40	chr12:9739995..9741756-chr12:9800822..9803051,2	K562	blood:
41	chr12:9802928..9804462-chr12:9806298..9808980,2	K562	blood:
42	chr12:9807372..9809354-chr12:9811080..9813636,2	K562	blood:
43	chr12:9436030..9436711-chr12:9600583..9601103,2	HCT-116	colon:

(count:70 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC2D-2	chr12:9600944-9601474	FPKM1_group_5754_transcript_1
2	lnc-CLEC2D-8	chr12:9809517-9811010	NONHSAT026842
3	lnc-CLEC2D-8	chr12:9800698-9800972	NONHSAT026844
4	lnc-CLEC2D-8	chr12:9809164-9809293	NONHSAT026840
5	lnc-CLEC2D-8	chr12:9806279-9806404	NONHSAT026839
6	lnc-CLEC2D-8	chr12:9807817-9807899	NONHSAT026843
7	lnc-CLEC2D-8	chr12:9809517-9811010	NONHSAT026843
8	lnc-CLEC2D-8	chr12:9808469-9808575	NONHSAT026839
9	lnc-CLEC2D-9	chr12:9723357-9723488	NONHSAT026830
10	lnc-CLEC2D-2	chr12:9613920-9614245	XLOC_009653
11	lnc-CLEC2D-8	chr12:9806279-9806404	NONHSAT026843
12	lnc-KLRB1-1	chr12:9800437-9800605	ENSG00000256442.1
13	lnc-CLEC2D-8	chr12:9808469-9808575	NONHSAT026844
14	lnc-CLEC2D-8	chr12:9808469-9808575	NONHSAT026843
15	lnc-CLEC2D-8	chr12:9809517-9811010	NONHSAT026833
16	lnc-CLEC2D-8	chr12:9800643-9801529	NONHSAT026839
17	lnc-CLEC2D-9	chr12:9725984-9726130	NONHSAT026830
18	lnc-CLEC2D-8	chr12:9806279-9806404	NONHSAT026837
19	lnc-CLEC2D-8	chr12:9809517-9811010	NONHSAT026831
20	lnc-CLEC2D-8	chr12:9809517-9809639	NONHSAT140054
21	lnc-CLEC2D-8	chr12:9808469-9808575	NONHSAT026837
22	lnc-KLRB1-3	chr12:9596229-9596278	NONHSAT026827
23	lnc-CLEC2D-8	chr12:9806279-9806404	NONHSAT026833
24	lnc-CLEC2D-8	chr12:9807817-9807899	NONHSAT140054
25	lnc-CLEC2D-8	chr12:9809517-9811008	NONHSAT026844
26	lnc-CLEC2D-8	chr12:9809164-9809293	NONHSAT026844
27	lnc-CLEC2D-8	chr12:9806279-9806404	NONHSAT026844
28	lnc-CLEC2D-8	chr12:9806279-9806404	NONHSAT026842
29	lnc-CLEC2D-8	chr12:9806279-9806404	NONHSAT026831
30	lnc-CLEC2D-8	chr12:9808469-9808575	NONHSAT026842
31	lnc-CLEC2D-8	chr12:9809164-9809245	NONHSAT026831
32	lnc-KLRB1-3	chr12:9596676-9596721	NONHSAT026827
33	lnc-CLEC2D-9	chr12:9728239-9728313	NONHSAT026830
34	lnc-KLRB1-3	chr12:9596155-9596205	NONHSAT026827
35	lnc-CLEC2D-2	chr12:9600969-9601474	XLOC_009653
36	lnc-CLEC2D-8	chr12:9806279-9806404	NONHSAT140054
37	lnc-CLEC2D-8	chr12:9809517-9811010	NONHSAT026837
38	lnc-CLEC2D-8	chr12:9806279-9806404	NONHSAT026834
39	lnc-CLEC2D-8	chr12:9807721-9807899	NONHSAT026833
40	lnc-CLEC2D-8	chr12:9787188-9787292	NONHSAT026834
41	lnc-CLEC2D-8	chr12:9809517-9811010	NONHSAT026839
42	lnc-KLRB1-3	chr12:9600578-9600808	NONHSAT026827
43	lnc-CLEC2D-8	chr12:9800643-9800924	NONHSAT026842
44	lnc-CLEC2D-9	chr12:9728714-9728863	NONHSAT026830
45	lnc-CLEC2D-8	chr12:9786015-9786117	NONHSAT026833
46	lnc-CLEC2D-2	chr12:9613919-9614245	FPKM1_group_5754_transcript_1
47	lnc-CLEC2D-8	chr12:9800643-9800924	NONHSAT026841
48	lnc-KLRB1-1	chr12:9799610-9799972	ENSG00000256442.1
49	lnc-CLEC2D-8	chr12:9800643-9800924	NONHSAT026840
50	lnc-CLEC2D-9	chr12:9724057-9724169	NONHSAT026830

No data

Variant related genes	Relation type
ENSG00000212432	TF binding region
ENSG00000272917	TF binding region
ENSG00000266633	TF binding region
GOT2P3	TF binding region
ENSG00000256442	TF binding region
DDX12P	TF binding region
KLRB1	TF binding region
ENSG00000256975	TF binding region
RNU6-700P	TF binding region
ENSG00000257027	TF binding region
ENSG00000256594	TF binding region
ENSG00000214776	TF binding region
ENSG00000212432	CpG island
ENSG00000272917	CpG island
ENSG00000266633	CpG island
GOT2P3	CpG island
ENSG00000256442	CpG island
DDX12P	CpG island
KLRB1	CpG island
ENSG00000256975	CpG island
RNU6-700P	CpG island
ENSG00000257027	CpG island
ENSG00000256594	CpG island
ENSG00000214776	CpG island
ENSG00000256594	chromatin interactions
ENSG00000272917	chromatin interactions
ENSG00000256442	chromatin interactions
ENSG00000214826	chromatin interactions
ENSG00000069493	chromatin interactions
ENSG00000257027	chromatin interactions
ENSG00000111796	chromatin interactions
ENSG00000213443	chromatin interactions
ENSG00000111788	chromatin interactions
ENSG00000233719	chromatin interactions
CASP7	miRNA target sites
CALU	miRNA target sites

Extended variants
information (count: 5180 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:5180 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56003068	chr12:9583607-9583608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs68095135	chr12:9583619-9583620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4525325	chr12:9583651-9583652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs201968863	chr12:9583677-9583678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373500823	chr12:9583784-9583785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547390867	chr12:9583807-9583808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201107068	chr12:9583906-9583907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61914688	chr12:9584127-9584128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201509555	chr12:9584289-9584290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199697131	chr12:9584337-9584338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3882934	chr12:9584916-9584917	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs368965918	chr12:9584962-9584963	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2553132	chr12:9584991-9584992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376159526	chr12:9585009-9585010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369815872	chr12:9585079-9585080	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61914692	chr12:9585121-9585122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377341839	chr12:9585127-9585128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202030916	chr12:9585129-9585130	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3874117	chr12:9585178-9585179	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184769728	chr12:9585210-9585211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189545874	chr12:9585231-9585232	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397833671	chr12:9585266-9585267	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397833670	chr12:9585272-9585273	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1814282	chr12:9585328-9585329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181528336	chr12:9585393-9585394	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61914693	chr12:9585407-9585408	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71447581	chr12:9585443-9585444	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56309949	chr12:9585487-9585488	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144373183	chr12:9585566-9585567	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4012605	chr12:9585573-9585574	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs75926916	chr12:9585578-9585579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200479049	chr12:9585598-9585599	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3874116	chr12:9585631-9585632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200040906	chr12:9585658-9585659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540746409	chr12:9585732-9585733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57169643	chr12:9585893-9585894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201145593	chr12:9585908-9585909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201987563	chr12:9586005-9586006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375145475	chr12:9586067-9586068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71231389	chr12:9586137-9586138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370804561	chr12:9586139-9586140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375940863	chr12:9586146-9586147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373766854	chr12:9586150-9586151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146890725	chr12:9586232-9586233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12321145	chr12:9586249-9586250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10797236	chr12:9586267-9586268	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10771741	chr12:9586268-9586269	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10843774	chr12:9586329-9586330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs2908219	chr12:9586348-9586349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2908218	chr12:9586356-9586357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
small cell lung cancer	20016488	CNVD
Incontinentia Pigmenti	22033527	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Cancer	21272361	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20531469	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:2197 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9544800-9593200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:9559200-9599600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:9560000-9584000	Weak transcription	Right Ventricle	heart
4	chr12:9560000-9599800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:9560200-9599600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:9560400-9599600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:9560400-9599600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:9564200-9584600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:9564800-9586000	Weak transcription	Fetal Lung	lung
10	chr12:9565000-9599800	Weak transcription	Esophagus	oesophagus
11	chr12:9566800-9592600	Weak transcription	Pancreas	Pancrea
12	chr12:9567000-9587000	Weak transcription	Primary T cells from cord blood	blood
13	chr12:9567000-9599400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:9567000-9599400	Weak transcription	HepG2	liver
15	chr12:9567000-9599600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:9567000-9599800	Weak transcription	Spleen	Spleen
17	chr12:9567200-9599800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:9569200-9592200	Weak transcription	Adipose Nuclei	Adipose
19	chr12:9569400-9599800	Weak transcription	Gastric	stomach
20	chr12:9570400-9591600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:9570600-9590200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:9571000-9599800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:9572400-9600400	Weak transcription	Small Intestine	intestine
24	chr12:9572600-9599600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:9573200-9593400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:9573400-9599200	Weak transcription	Hela-S3	cervix
27	chr12:9573600-9588000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:9573600-9599600	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:9574200-9590600	Weak transcription	Thymus	Thymus
30	chr12:9575200-9587800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:9575400-9583600	Strong transcription	Dnd41	blood
32	chr12:9575400-9586000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:9575400-9587000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:9576400-9595200	Weak transcription	HMEC	breast
35	chr12:9576600-9583800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:9577000-9599600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:9577200-9586400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:9577200-9599600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:9577200-9599800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:9577200-9599800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:9577400-9599600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:9578200-9592800	Weak transcription	A549	lung
43	chr12:9578600-9586200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:9579200-9599400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:9579400-9599600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:9580400-9599400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:9581000-9585200	Weak transcription	Fetal Thymus	thymus
48	chr12:9581800-9599800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:9581800-9600400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:9583000-9583600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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