Variant report

Variant	esv2757832
Chromosome Location	chr2:127830943-128006514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3314)
CpG islands
(count:3547)
Chromatin interactive
region (count:128)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3314 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:127955353-127955758	HepG2	liver:	n/a	n/a
2	ATF1	chr2:127955399-127955802	K562	blood:	n/a	n/a
3	ATF2	chr2:127978469-127978928	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:127984223-127984756	GM12878	blood:	n/a	n/a
5	ATF2	chr2:127839350-127839700	GM12878	blood:	n/a	n/a
6	ATF2	chr2:127844429-127844950	GM12878	blood:	n/a	n/a
7	ATF2	chr2:127844404-127844947	GM12878	blood:	n/a	n/a
8	ATF2	chr2:127984363-127984716	GM12878	blood:	n/a	n/a
9	ATF3	chr2:127954584-127954780	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr2:127984083-127984777	A549	lung:	n/a	n/a
11	ATF3	chr2:127984186-127984708	A549	lung:	n/a	n/a
12	BACH1	chr2:127846567-127846639	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr2:127976536-127976757	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr2:127864449-127864641	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:127863286-127863726	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr2:127897626-127897655	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr2:127955490-127955500	K562	blood:	n/a	n/a
18	BACH1	chr2:127977021-127977221	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr2:127865004-127865041	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr2:127978610-127978921	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr2:127984256-127984769	GM12878	blood:	n/a	n/a
22	BATF	chr2:127984343-127984709	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:127844549-127844858	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:127984370-127984646	GM12878	blood:	n/a	n/a
25	BCL3	chr2:127955212-127955727	A549	lung:	n/a	n/a
26	BCL3	chr2:127984076-127984728	A549	lung:	n/a	n/a
27	BCL3	chr2:127983900-127984744	A549	lung:	n/a	n/a
28	BCLAF1	chr2:127844359-127844791	GM12878	blood:	n/a	n/a
29	BCLAF1	chr2:127839268-127839716	GM12878	blood:	n/a	n/a
30	BHLHE40	chr2:127886097-127886412	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:127842880-127843222	GM12878	blood:	n/a	n/a
32	BHLHE40	chr2:127932544-127932879	K562	blood:	n/a	n/a
33	BHLHE40	chr2:127844445-127844936	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:127844529-127844581	K562	blood:	n/a	n/a
35	BHLHE40	chr2:127954687-127954847	K562	blood:	n/a	n/a
36	BHLHE40	chr2:127838526-127839961	GM12878	blood:	n/a	n/a
37	BHLHE40	chr2:127841796-127841981	K562	blood:	n/a	n/a
38	BHLHE40	chr2:127915438-127915589	K562	blood:	n/a	chr2:127915532-127915541 chr2:127915533-127915542 chr2:127915526-127915547 chr2:127915532-127915541 chr2:127915531-127915540
39	BHLHE40	chr2:127954508-127954833	A549	lung:	n/a	n/a
40	BHLHE40	chr2:127864479-127864849	GM12878	blood:	n/a	n/a
41	BHLHE40	chr2:127955400-127955732	HepG2	liver:	n/a	n/a
42	BHLHE40	chr2:127984191-127984545	A549	lung:	n/a	n/a
43	BHLHE40	chr2:127984338-127984674	GM12878	blood:	n/a	n/a
44	BHLHE40	chr2:127955387-127955727	K562	blood:	n/a	n/a
45	BHLHE40	chr2:127914927-127914972	K562	blood:	n/a	n/a
46	BHLHE40	chr2:127932569-127932880	HepG2	liver:	n/a	n/a
47	BHLHE40	chr2:127838100-127838398	K562	blood:	n/a	n/a
48	BHLHE40	chr2:127914887-127915011	GM12878	blood:	n/a	n/a
49	BRCA1	chr2:127982380-127982574	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr2:127863282-127863907	Hela-S3	cervix:	n/a	n/a

(count:3547 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:127955156-127955206	HCT-116	colon:	n/a
2	chr2:127963590-127963640	ovcar-3	ovarian:	n/a
3	chr2:127914388-127914438	NHBE	bronchial:	n/a
4	chr2:127841945-127841995	AG04449	skin:	fetal
5	chr2:127865245-127865295	AG04449	skin:	fetal
6	chr2:127864941-127864991	ECC-1	luminal epithelium:	n/a
7	chr2:127976613-127976663	SAEC	small airway:	n/a
8	chr2:127864964-127865014	HRCEpiC	kidney:	n/a
9	chr2:127839539-127839589	H1-hESC	embryonic stem cell:	embryo
10	chr2:127955156-127955206	HCT-116	colon:	n/a
11	chr2:127963590-127963640	ovcar-3	ovarian:	n/a
12	chr2:127914388-127914438	NHBE	bronchial:	n/a
13	chr2:127841945-127841995	AG04449	skin:	fetal
14	chr2:127865245-127865295	AG04449	skin:	fetal
15	chr2:127864941-127864991	ECC-1	luminal epithelium:	n/a
16	chr2:127976613-127976663	SAEC	small airway:	n/a
17	chr2:127864964-127865014	HRCEpiC	kidney:	n/a
18	chr2:127839539-127839589	H1-hESC	embryonic stem cell:	embryo
19	chr2:127977559-127977609	CMK	blood:	n/a
20	chr2:127963489-127963539	AG04450	lung:	fetal
21	chr2:127977559-127977609	H1-hESC	embryonic stem cell:	embryo
22	chr2:127865248-127865298	GM12891	blood:	n/a
23	chr2:127963503-127963553	SAEC	small airway:	n/a
24	chr2:127864964-127865014	PANC-1	pancreas:	n/a
25	chr2:127839539-127839589	NT2-D1	testis:	n/a
26	chr2:127852450-127852500	MCF-7	breast:	n/a
27	chr2:127933555-127933605	AG04450	lung:	fetal
28	chr2:127868745-127868795	Jurkat	blood:	n/a
29	chr2:127951414-127951464	H1-hESC	embryonic stem cell:	embryo
30	chr2:127963489-127963539	HCF	heart:	n/a
31	chr2:127964374-127964424	SK-N-SH_RA	brain:	n/a
32	chr2:127964374-127964424	LNCaP	prostate:	n/a
33	chr2:127951414-127951464	SKMC	muscle:	n/a
34	chr2:127864926-127864976	NHBE	bronchial:	n/a
35	chr2:127963590-127963640	GM12891	blood:	n/a
36	chr2:127864359-127864409	HAEpiC	amniotic membrane:	n/a
37	chr2:127978490-127978540	AG09309	skin:	n/a
38	chr2:127942965-127943015	SKMC	muscle:	n/a
39	chr2:127914388-127914438	PFSK-1	brain:	n/a
40	chr2:127933992-127934042	Hela-S3	cervix:	n/a
41	chr2:127862614-127862664	PrEC	prostate:	n/a
42	chr2:127933617-127933667	Caco-2	colon:	n/a
43	chr2:127933617-127933667	HCPEpiC	choroid plexus:	n/a
44	chr2:127865197-127865247	AG04450	lung:	fetal
45	chr2:127963590-127963640	HAEpiC	amniotic membrane:	n/a
46	chr2:127865197-127865247	HIPEpiC	eye:	n/a
47	chr2:127973314-127973364	Hepatocyte	liver:	n/a
48	chr2:127865245-127865295	ProgFib	skin:	n/a
49	chr2:127950803-127950853	PrEC	prostate:	n/a
50	chr2:127975738-127975788	SK-N-SH_RA	brain:	n/a

(count:128 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:127955337..127956037-chr2:128237940..128238875,2	K562	blood:
2	chr2:127957491..127959213-chr2:128050119..128052916,2	MCF-7	breast:
3	chr2:127973375..127977110-chr2:128049967..128052200,3	MCF-7	breast:
4	chr2:127834701..127837421-chr2:127840734..127842424,2	MCF-7	breast:
5	chr2:127931709..127933400-chr2:127933825..127936589,2	K562	blood:
6	chr2:127885022..127887018-chr2:127889379..127891322,2	MCF-7	breast:
7	chr2:127865657..127869658-chr2:127871080..127873352,3	K562	blood:
8	chr2:127887864..127891673-chr2:127893871..127897975,4	K562	blood:
9	chr2:127897498..127899441-chr2:127923498..127925266,2	MCF-7	breast:
10	chr2:127954574..127955249-chr2:128236342..128237229,4	MCF-7	breast:
11	chr2:127841990..127844933-chr2:127856467..127858298,2	K562	blood:
12	chr2:127825324..127826896-chr2:127856890..127859750,2	MCF-7	breast:
13	chr2:127842780..127845072-chr2:127863578..127865079,2	K562	blood:
14	chr2:127822672..127825565-chr2:127830790..127832845,2	K562	blood:
15	chr12:14955965..14957111-chr2:128004216..128005217,4	Hela-S3	cervix:
16	chr2:127825650..127826234-chr2:127897075..127897865,2	MCF-7	breast:
17	chr2:127853337..127855770-chr2:127871735..127873345,2	K562	blood:
18	chr2:127840959..127842662-chr2:127845324..127846999,2	K562	blood:
19	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
20	chr2:127898549..127900988-chr2:127902748..127904778,2	K562	blood:
21	chr2:127954460..127955590-chr2:128210604..128211170,3	K562	blood:
22	chr2:127909667..127911574-chr2:127917303..127919893,2	K562	blood:
23	chr2:127837291..127839948-chr2:127841422..127844629,3	K562	blood:
24	chr2:127840959..127842662-chr2:127845324..127846999,2	K562	blood:
25	chr2:127955164..127955723-chr2:128051531..128052122,2	MCF-7	breast:
26	chr2:127846603..127849237-chr2:127850068..127853450,3	K562	blood:
27	chr2:127846603..127849237-chr2:127850068..127853450,3	K562	blood:
28	chr2:127947734..127951220-chr2:127951984..127955891,4	MCF-7	breast:
29	chr2:127965809..127968370-chr2:127982231..127984174,2	K562	blood:
30	chr2:127953428..127957461-chr2:128050157..128053368,5	MCF-7	breast:
31	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
32	chr2:127961531..127964078-chr2:127974115..127976124,2	MCF-7	breast:
33	chr2:127825223..127826267-chr2:127857805..127858865,3	MCF-7	breast:
34	chr2:127983824..127986072-chr2:128049490..128052043,3	MCF-7	breast:
35	chr2:127941736..127944495-chr2:127944989..127948181,3	K562	blood:
36	chr2:127978350..127980779-chr2:127984214..127985920,2	MCF-7	breast:
37	chr2:127983318..127986030-chr2:128006327..128008431,2	MCF-7	breast:
38	chr2:127823166..127825424-chr2:127856557..127859034,2	MCF-7	breast:
39	chr2:127852372..127854342-chr2:127858358..127859956,2	MCF-7	breast:
40	chr2:127853140..127855394-chr2:127860485..127862176,2	MCF-7	breast:
41	chr2:127853337..127855770-chr2:127871735..127873345,2	K562	blood:
42	chr2:127972542..127975941-chr2:127982453..127985678,4	MCF-7	breast:
43	chr2:127842254..127844330-chr2:127859021..127861716,3	MCF-7	breast:
44	chr2:127941795..127944495-chr2:127946348..127948181,2	K562	blood:
45	chr2:127941795..127944495-chr2:127946348..127948181,2	K562	blood:
46	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
47	chr2:127975205..127977314-chr2:127992465..127995136,2	K562	blood:
48	chr2:127843180..127845570-chr2:127848864..127852714,3	MCF-7	breast:
49	chr2:127868348..127869960-chr2:127871605..127873219,2	MCF-7	breast:
50	chr2:127999130..128000995-chr2:128003196..128005474,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114783.1.1-4	chr2:127862718-127863044	l_1944_chr2:127862717-127879890_lung
2	lnc-AC114783.1.1-4	chr2:127863176-127863231	NONHSAT074143
3	lnc-AC114783.1.1-4	chr2:127871993-127874626	NONHSAT074143
4	lnc-AC114783.1.1-4	chr2:127879861-127879890	l_1944_chr2:127862717-127879890_lung
5	lnc-CYP27C1-1	chr2:127861773-127862104	expReg_chr2_9105_-
6	lnc-ERCC3-1	chr2:127975143-127976209	ucscGeneNc_uc002too_1
7	lnc-PROC-6	chr2:127927587-127927807	NONHSAT074144
8	lnc-AC114783.1.1-4	chr2:127863157-127863231	l_1944_chr2:127862717-127879890_lung

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CYP27C1	hsa-miR-335-5p	chr2:127941618-127941641

Variant related genes	Relation type
NIFKP9	TF binding region
ENSG00000226789	TF binding region
BIN1	TF binding region
CYP27C1	TF binding region
NIFKP9	CpG island
ENSG00000226789	CpG island
BIN1	CpG island
CYP27C1	CpG island
ENSG00000226789	chromatin interactions
ENSG00000186684	chromatin interactions
ENSG00000136717	chromatin interactions
ENSG00000084463	chromatin interactions
ENSG00000182993	chromatin interactions
ENSG00000175634	chromatin interactions
ENSG00000163161	chromatin interactions

Extended variants
information (count: 7052 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:7052 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531262787	chr2:127830986-127830987	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs550442258	chr2:127830987-127830988	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs114844018	chr2:127831029-127831030	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs377547140	chr2:127831042-127831043	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs535576533	chr2:127831064-127831065	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs555514785	chr2:127831065-127831066	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs148912957	chr2:127831066-127831067	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs545828700	chr2:127831067-127831068	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs552273615	chr2:127831136-127831137	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs557760730	chr2:127831144-127831145	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs577918095	chr2:127831165-127831166	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs151202481	chr2:127831170-127831171	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs543191518	chr2:127831192-127831193	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs563178427	chr2:127831193-127831194	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs190063471	chr2:127831276-127831277	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs541893954	chr2:127831292-127831293	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs562213136	chr2:127831319-127831320	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs376599135	chr2:127831397-127831398	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs192927728	chr2:127831399-127831400	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs554112813	chr2:127831475-127831476	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533693442	chr2:127831476-127831477	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550379120	chr2:127831509-127831510	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs112785730	chr2:127831527-127831528	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577200599	chr2:127831559-127831560	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529531454	chr2:127831594-127831595	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34227836	chr2:127831634-127831635	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73955803	chr2:127831641-127831642	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565810731	chr2:127831664-127831665	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184040747	chr2:127831733-127831734	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530267242	chr2:127831749-127831750	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369973554	chr2:127831795-127831796	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs72846688	chr2:127831811-127831812	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571435891	chr2:127831847-127831848	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147989535	chr2:127831872-127831873	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556860107	chr2:127831971-127831972	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573455976	chr2:127831999-127832000	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs140678134	chr2:127832063-127832064	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs144692681	chr2:127832077-127832078	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs572547914	chr2:127832165-127832166	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138530867	chr2:127832275-127832276	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs72377789	chr2:127832276-127832277	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs80130474	chr2:127832277-127832278	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541042189	chr2:127832278-127832279	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs60320134	chr2:127832294-127832295	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs138561672	chr2:127832301-127832302	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs188753663	chr2:127832302-127832303	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs375700495	chr2:127832320-127832321	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544099052	chr2:127832338-127832339	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs10202325	chr2:127832345-127832346	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs55889591	chr2:127832348-127832349	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4819 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127808600-127834200	Strong transcription	Primary T cells from cord blood	blood
2	chr2:127815200-127850800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:127816800-127831200	Weak transcription	Fetal Brain Female	brain
4	chr2:127817200-127833800	Genic enhancers	Spleen	Spleen
5	chr2:127818400-127844400	Genic enhancers	Fetal Muscle Leg	muscle
6	chr2:127821200-127838600	Genic enhancers	Fetal Muscle Trunk	muscle
7	chr2:127822800-127836600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:127822800-127836800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:127823000-127832800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:127823200-127831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:127823200-127832600	Weak transcription	GM12878-XiMat	blood
12	chr2:127823200-127838200	Weak transcription	Left Ventricle	heart
13	chr2:127823400-127839200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:127823600-127838800	Weak transcription	Fetal Kidney	kidney
15	chr2:127824000-127838400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:127825000-127831000	Strong transcription	Thymus	Thymus
17	chr2:127825400-127832400	Weak transcription	Right Atrium	heart
18	chr2:127825600-127836600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:127825600-127840000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:127825800-127831000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:127825800-127832000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:127825800-127834600	Weak transcription	NHEK	skin
23	chr2:127825800-127835600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:127825800-127836600	Weak transcription	Pancreas	Pancrea
25	chr2:127825800-127836600	Weak transcription	Osteobl	bone
26	chr2:127825800-127838400	Weak transcription	HUVEC	blood vessel
27	chr2:127826000-127831400	Strong transcription	Fetal Thymus	thymus
28	chr2:127826000-127831800	Weak transcription	Stomach Mucosa	stomach
29	chr2:127826000-127832000	Weak transcription	A549	lung
30	chr2:127826000-127832800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:127826000-127833200	Genic enhancers	Brain Hippocampus Middle	brain
32	chr2:127826000-127833600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:127826000-127834200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:127826000-127834800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:127826000-127836000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:127826200-127832200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:127826200-127835200	Weak transcription	Esophagus	oesophagus
38	chr2:127826600-127831200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:127826800-127832600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:127827000-127831000	Strong transcription	Gastric	stomach
41	chr2:127827200-127834200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:127827400-127836800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:127828000-127834800	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:127828000-127840200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:127828000-127840200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:127828200-127833400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:127828200-127836800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:127828200-127838200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:127828200-127838200	Weak transcription	NHLF	lung
50	chr2:127828400-127831600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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