Variant report

Variant	nsv527737
Chromosome Location	chr2:177538266-177692572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1148)
CpG islands
(count:247)
Chromatin interactive
region (count:74)
LncRNA
region (count:31)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1148 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:177679462-177679843	K562	blood:	n/a	n/a
2	ATF2	chr2:177628630-177629258	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr2:177628674-177629170	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:177610683-177610863	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:177611240-177611440	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:177628663-177629142	H1-hESC	embryonic stem cell:	n/a	chr2:177628973-177628987
7	BACH1	chr2:177681854-177681970	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr2:177628707-177629176	GM12878	blood:	n/a	chr2:177628977-177628987 chr2:177628972-177628983
9	BATF	chr2:177598223-177598512	GM12878	blood:	n/a	chr2:177598324-177598335
10	BATF	chr2:177598856-177599055	GM12878	blood:	n/a	n/a
11	BATF	chr2:177628764-177629146	GM12878	blood:	n/a	chr2:177628977-177628987 chr2:177628972-177628983
12	BATF	chr2:177598801-177599155	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:177628846-177629122	H1-hESC	embryonic stem cell:	n/a	chr2:177628975-177628984 chr2:177628976-177628985
14	BHLHE40	chr2:177692170-177692215	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:177599710-177599988	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:177679386-177679761	GM12878	blood:	n/a	n/a
17	BRCA1	chr2:177679550-177679788	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr2:177546956-177547468	K562	blood:	n/a	chr2:177547318-177547329 chr2:177547320-177547329 chr2:177547116-177547127
19	CEBPB	chr2:177656129-177656305	K562	blood:	n/a	chr2:177656171-177656182
20	CEBPB	chr2:177550611-177551052	MCF-7	breast:	n/a	n/a
21	CEBPB	chr2:177545610-177545998	HCT-116	colon:	n/a	chr2:177545729-177545740 chr2:177545818-177545831 chr2:177545729-177545742 chr2:177545818-177545829
22	CEBPB	chr2:177620498-177620709	HepG2	liver:	n/a	chr2:177620587-177620600 chr2:177620587-177620598 chr2:177620589-177620600 chr2:177620589-177620600 chr2:177620587-177620600 chr2:177620587-177620600
23	CEBPB	chr2:177682302-177682368	K562	blood:	n/a	chr2:177682340-177682349
24	CEBPB	chr2:177545660-177545994	HepG2	liver:	n/a	chr2:177545729-177545740 chr2:177545818-177545831 chr2:177545729-177545742 chr2:177545818-177545829
25	CEBPB	chr2:177545660-177545996	K562	blood:	n/a	chr2:177545729-177545740 chr2:177545818-177545831 chr2:177545729-177545742 chr2:177545818-177545829
26	CEBPB	chr2:177628809-177629112	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr2:177656017-177656273	HepG2	liver:	n/a	chr2:177656171-177656182
28	CEBPB	chr2:177546966-177547449	A549	lung:	n/a	chr2:177547318-177547329 chr2:177547320-177547329 chr2:177547116-177547127
29	CEBPB	chr2:177681868-177682396	H1-hESC	embryonic stem cell:	n/a	chr2:177682340-177682349
30	CEBPB	chr2:177660416-177660839	HepG2	liver:	n/a	chr2:177660587-177660598
31	CEBPB	chr2:177545544-177545997	HCT-116	colon:	n/a	chr2:177545729-177545740 chr2:177545818-177545831 chr2:177545729-177545742 chr2:177545818-177545829
32	CEBPB	chr2:177594151-177594335	HepG2	liver:	n/a	chr2:177594197-177594208 chr2:177594199-177594208 chr2:177594181-177594194 chr2:177594181-177594192 chr2:177594183-177594194
33	CEBPB	chr2:177545667-177545988	A549	lung:	n/a	chr2:177545729-177545740 chr2:177545818-177545831 chr2:177545729-177545742 chr2:177545818-177545829
34	CEBPB	chr2:177639533-177639824	A549	lung:	n/a	chr2:177639683-177639694
35	CEBPB	chr2:177546982-177547380	H1-hESC	embryonic stem cell:	n/a	chr2:177547318-177547329 chr2:177547320-177547329 chr2:177547116-177547127
36	CEBPB	chr2:177550685-177551013	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:177639574-177639748	H1-hESC	embryonic stem cell:	n/a	chr2:177639683-177639694
38	CEBPB	chr2:177639566-177639812	K562	blood:	n/a	chr2:177639683-177639694
39	CEBPB	chr2:177618674-177618896	HepG2	liver:	n/a	n/a
40	CEBPB	chr2:177575591-177575639	HepG2	liver:	n/a	chr2:177575619-177575630
41	CEBPB	chr2:177678946-177679400	MCF-7	breast:	n/a	chr2:177679097-177679108
42	CEBPB	chr2:177595926-177596122	K562	blood:	n/a	chr2:177596032-177596049
43	CEBPB	chr2:177594104-177594315	A549	lung:	n/a	chr2:177594197-177594208 chr2:177594199-177594208 chr2:177594181-177594194 chr2:177594181-177594192 chr2:177594183-177594194
44	CEBPB	chr2:177618631-177618870	A549	lung:	n/a	n/a
45	CEBPB	chr2:177639531-177639847	HepG2	liver:	n/a	chr2:177639683-177639694
46	CEBPB	chr2:177550586-177551096	MCF-7	breast:	n/a	n/a
47	CEBPB	chr2:177546983-177547416	Hela-S3	cervix:	n/a	chr2:177547318-177547329 chr2:177547320-177547329 chr2:177547116-177547127
48	CEBPB	chr2:177679007-177679349	MCF-7	breast:	n/a	chr2:177679097-177679108
49	CEBPB	chr2:177561849-177562096	A549	lung:	n/a	chr2:177561980-177561993 chr2:177561980-177561991 chr2:177561982-177561991 chr2:177561980-177561993 chr2:177561982-177561991 chr2:177561980-177561993 chr2:177561982-177561991 chr2:177561982-177561991 chr2:177561980-177561991
50	CEBPB	chr2:177639562-177639834	IMR90	lung:	n/a	chr2:177639683-177639694

(count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:177682959-177683009	HCT-116	colon:	n/a
2	chr2:177629247-177629297	MCF10A-Er-Src	breast:	n/a
3	chr2:177629247-177629297	ECC-1	luminal epithelium:	n/a
4	chr2:177682959-177683009	HCT-116	colon:	n/a
5	chr2:177629247-177629297	MCF10A-Er-Src	breast:	n/a
6	chr2:177629247-177629297	ECC-1	luminal epithelium:	n/a
7	chr2:177610783-177610833	U87	brain:	n/a
8	chr2:177610783-177610833	A549	lung:	n/a
9	chr2:177629247-177629297	HCT-116	colon:	n/a
10	chr2:177682959-177683009	MCF-7	breast:	n/a
11	chr2:177677715-177677765	Hepatocyte	liver:	n/a
12	chr2:177682959-177683009	HCPEpiC	choroid plexus:	n/a
13	chr2:177677715-177677765	HMEC	breast:	n/a
14	chr2:177610783-177610833	AG09319	gingival:	n/a
15	chr2:177610783-177610833	BE2_C	brain:	n/a
16	chr2:177682959-177683009	K562	blood:	n/a
17	chr2:177682959-177683009	PrEC	prostate:	n/a
18	chr2:177677715-177677765	HepG2	liver:	n/a
19	chr2:177610783-177610833	MCF-7	breast:	n/a
20	chr2:177677715-177677765	T-47D	breast:	n/a
21	chr2:177629247-177629297	CMK	blood:	n/a
22	chr2:177677715-177677765	MCF10A-Er-Src	breast:	n/a
23	chr2:177629247-177629297	GM12892	blood:	n/a
24	chr2:177610783-177610833	HUVEC	blood vessel:	n/a
25	chr2:177629247-177629297	SK-N-SH	brain:	n/a
26	chr2:177610783-177610833	HepG2	liver:	n/a
27	chr2:177629247-177629297	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:177682959-177683009	HMEC	breast:	n/a
29	chr2:177629247-177629297	H1-hESC	embryonic stem cell:	embryo
30	chr2:177610783-177610833	HEK293	kidney:	embryo
31	chr2:177610783-177610833	AG04449	skin:	fetal
32	chr2:177677715-177677765	NT2-D1	testis:	n/a
33	chr2:177629247-177629297	AG04450	lung:	fetal
34	chr2:177610783-177610833	AG09309	skin:	n/a
35	chr2:177629247-177629297	BJ	skin:	n/a
36	chr2:177677715-177677765	H1-hESC	embryonic stem cell:	embryo
37	chr2:177682959-177683009	NH-A	brain:	n/a
38	chr2:177677715-177677765	MCF-7	breast:	n/a
39	chr2:177677715-177677765	A549	lung:	n/a
40	chr2:177682959-177683009	SK-N-SH	brain:	n/a
41	chr2:177629247-177629297	AG10803	skin:	n/a
42	chr2:177677715-177677765	HRPEpiC	eye:	n/a
43	chr2:177682959-177683009	U87	brain:	n/a
44	chr2:177682959-177683009	HNPCEpiC	eye:	n/a
45	chr2:177610783-177610833	HEEpiC	esophagus:	n/a
46	chr2:177629247-177629297	Hepatocyte	liver:	n/a
47	chr2:177629247-177629297	AG09319	gingival:	n/a
48	chr2:177610783-177610833	SK-N-MC	brain:	n/a
49	chr2:177629247-177629297	HEK293	kidney:	embryo
50	chr2:177610783-177610833	ovcar-3	ovarian:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:177589365..177592103-chr2:177592770..177594911,2	K562	blood:
2	chr17:57920078..57923319-chr2:177608048..177611070,3	MCF-7	breast:
3	chr2:177571092..177572903-chr2:177576899..177578649,2	K562	blood:
4	chr2:177621854..177624044-chr2:177654203..177657140,2	K562	blood:
5	chr2:177581802..177583651-chr2:177676753..177679006,2	MCF-7	breast:
6	chr2:177681791..177682364-chr2:177920929..177921705,3	MCF-7	breast:
7	chr2:177622528..177624674-chr2:177643112..177645576,2	K562	blood:
8	chr2:177678711..177679684-chr2:177710502..177711032,2	MCF-7	breast:
9	chr2:177622528..177624674-chr2:177643112..177645576,2	K562	blood:
10	chr2:177545978..177548623-chr2:177551740..177554612,2	MCF-7	breast:
11	chr2:177621854..177624044-chr2:177654203..177657140,2	K562	blood:
12	chr2:177545219..177547793-chr2:177641996..177643563,2	MCF-7	breast:
13	chr2:177610086..177610770-chr2:177679196..177679715,2	MCF-7	breast:
14	chr2:177535397..177538319-chr2:177538873..177541835,3	K562	blood:
15	chr2:177548980..177550892-chr2:177552104..177553664,2	K562	blood:
16	chr2:177681891..177682631-chr2:177894091..177894839,2	MCF-7	breast:
17	chr2:177669684..177672238-chr2:177673303..177676064,2	MCF-7	breast:
18	chr2:177491780..177494605-chr2:177545275..177547970,2	K562	blood:
19	chr2:177576667..177578638-chr2:177579618..177582271,2	MCF-7	breast:
20	chr2:177640122..177642678-chr2:177644160..177645809,2	MCF-7	breast:
21	chr2:177516751..177517622-chr2:177679221..177680084,2	MCF-7	breast:
22	chr2:177603815..177606762-chr2:177609259..177611807,2	K562	blood:
23	chr2:177518336..177518879-chr2:177679032..177679756,2	MCF-7	breast:
24	chr2:177682249..177683863-chr2:177688403..177690457,2	K562	blood:
25	chr2:177517363..177518895-chr2:177675170..177677117,2	MCF-7	breast:
26	chr2:177647367..177649266-chr2:177651697..177653303,2	K562	blood:
27	chr2:177669684..177672238-chr2:177673303..177676064,2	MCF-7	breast:
28	chr2:177516771..177517762-chr2:177679104..177680158,5	MCF-7	breast:
29	chr2:177541126..177544092-chr2:177546017..177548912,2	MCF-7	breast:
30	chr2:177680489..177682595-chr2:178006256..178007804,2	K562	blood:
31	chr2:177681927..177682692-chr2:178011755..178012476,4	MCF-7	breast:
32	chr2:177543870..177544476-chr2:177679175..177679998,2	MCF-7	breast:
33	chr2:177682249..177683863-chr2:177688403..177690457,2	K562	blood:
34	chr2:177643780..177645789-chr2:177649282..177651743,2	MCF-7	breast:
35	chr2:177622617..177624792-chr2:177626830..177629711,2	K562	blood:
36	chr2:177571092..177572903-chr2:177576899..177578649,2	K562	blood:
37	chr2:177611802..177613808-chr2:177615390..177616937,2	K562	blood:
38	chr2:177681778..177682466-chr2:177694782..177695701,2	MCF-7	breast:
39	chr2:177691940..177694193-chr2:177709173..177710889,2	K562	blood:
40	chr2:177672353..177675128-chr2:177678147..177680944,2	K562	blood:
41	chr2:177535363..177538180-chr2:177540351..177541959,2	MCF-7	breast:
42	chr2:177564685..177566847-chr2:177568212..177570076,2	K562	blood:
43	chr2:177681169..177682003-chr2:178013015..178013846,2	MCF-7	breast:
44	chr2:177543870..177544476-chr2:177679175..177679998,2	MCF-7	breast:
45	chr2:177573905..177575538-chr2:177820254..177821842,2	K562	blood:
46	chr2:177632631..177635766-chr2:177643014..177646486,3	MCF-7	breast:
47	chr2:177581802..177583651-chr2:177676753..177679006,2	MCF-7	breast:
48	chr2:177627395..177629802-chr2:177630789..177633436,2	MCF-7	breast:
49	chr2:177643243..177644972-chr2:177646414..177648554,3	K562	blood:
50	chr2:177640122..177642678-chr2:177644160..177645809,2	MCF-7	breast:

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NFE2L2-5	chr2:177630795-177630839	ENSG00000230552.1
2	lnc-HNRNPA3-11	chr2:177681733-177681819	NONHSAT075679
3	lnc-NFE2L2-5	chr2:177657295-177657372	ENSG00000230552.1
4	lnc-NFE2L2-5	chr2:177622048-177626286	NONHSAT075673
5	lnc-NFE2L2-5	chr2:177676800-177676921	ENSG00000230552.1
6	lnc-NFE2L2-5	chr2:177683965-177684038	ENSG00000230552.1
7	lnc-NFE2L2-5	chr2:177622048-177622107	ENSG00000230552.1
8	lnc-NFE2L2-5	chr2:177626390-177626426	ENSG00000230552.1
9	lnc-NFE2L2-7	chr2:177674154-177674587	NONHSAT075678
10	lnc-NFE2L2-5	chr2:177588996-177589183	ENSG00000230552.1
11	lnc-NFE2L2-5	chr2:177626136-177626286	ENSG00000230552.1
12	lnc-NFE2L2-5	chr2:177657295-177657372	ENSG00000230552.1
13	lnc-MTX2-1	chr2:177537991-177539076	l_1997_chr2:177465228-177521692_thyroid
14	lnc-HNRNPA3-11	chr2:177683379-177684873	NONHSAT075679
15	lnc-NFE2L2-5	chr2:177626390-177626426	ENSG00000230552.1
16	lnc-NFE2L2-5	chr2:177657295-177657372	NONHSAT075673
17	lnc-NFE2L2-5	chr2:177647544-177647647	ENSG00000230552.1
18	lnc-NFE2L2-5	chr2:177618128-177618310	NONHSAT075673
19	lnc-HNRNPA3-12	chr2:177653947-177654092	NONHSAT075677
20	lnc-NFE2L2-5	chr2:177676800-177676925	NONHSAT075673
21	lnc-HNRNPA3-10	chr2:177686758-177688381	NONHSAT075680
22	lnc-HNRNPA3-11	chr2:177682052-177682380	NONHSAT075679
23	lnc-NFE2L2-5	chr2:177618128-177618310	ENSG00000230552.1
24	lnc-NFE2L2-5	chr2:177622048-177626286	ENSG00000230552.1
25	lnc-NFE2L2-5	chr2:177626188-177626426	ENSG00000230552.1
26	lnc-NFE2L2-5	chr2:177625965-177626426	ENSG00000230552.1
27	lnc-NFE2L2-5	chr2:177676800-177676921	ENSG00000230552.1
28	lnc-NFE2L2-5	chr2:177627228-177627344	ENSG00000230552.1
29	lnc-NFE2L2-5	chr2:177626390-177626426	NONHSAT075673
30	lnc-NFE2L2-5	chr2:177683965-177683978	ENSG00000230552.1
31	lnc-HNRNPA3-12	chr2:177651613-177651715	NONHSAT075677

No data

Variant related genes	Relation type
ENSG00000223777	TF binding region
ENSG00000230552	TF binding region
FUCA1P1	TF binding region
ENSG00000223777	CpG island
ENSG00000230552	CpG island
FUCA1P1	CpG island
ENSG00000223777	chromatin interactions
ENSG00000236501	chromatin interactions
ENSG00000230552	chromatin interactions
ENSG00000116044	chromatin interactions
ENSG00000237053	chromatin interactions
ENSG00000222043	chromatin interactions

Extended variants
information (count: 4821 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:4821 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2362866	chr2:177538266-177538267	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114053497	chr2:177538292-177538293	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs183286304	chr2:177538300-177538301	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs34859329	chr2:177538388-177538389	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs138077164	chr2:177538399-177538400	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs11682857	chr2:177538424-177538425	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
7	rs143545743	chr2:177538425-177538426	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
8	rs78136318	chr2:177538438-177538439	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
9	rs13403350	chr2:177538446-177538447	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559389042	chr2:177538462-177538463	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
11	rs532962084	chr2:177538532-177538533	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
12	rs115324800	chr2:177538533-177538534	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
13	rs564816631	chr2:177538561-177538562	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
14	rs187267990	chr2:177538597-177538598	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
15	rs371808135	chr2:177538599-177538600	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
16	rs550326950	chr2:177538614-177538615	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs12617412	chr2:177538620-177538621	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72930256	chr2:177538629-177538630	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372477697	chr2:177538642-177538643	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs547529511	chr2:177538643-177538644	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs11695305	chr2:177538647-177538648	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557742341	chr2:177538659-177538660	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs576267369	chr2:177538705-177538706	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs561734407	chr2:177538746-177538747	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs536981998	chr2:177538767-177538768	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs555530192	chr2:177538785-177538786	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs573801540	chr2:177538841-177538842	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs541081990	chr2:177538859-177538860	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs55963234	chr2:177538884-177538885	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147153794	chr2:177538890-177538891	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs545043940	chr2:177538902-177538903	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs367980552	chr2:177538916-177538917	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs34843349	chr2:177538917-177538918	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs200340810	chr2:177538918-177538919	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs563165656	chr2:177538930-177538931	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs34471476	chr2:177538935-177538936	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs397869292	chr2:177538956-177538957	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs201489358	chr2:177538957-177538958	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs9941602	chr2:177539003-177539004	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs55898660	chr2:177539024-177539025	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34725252	chr2:177539030-177539031	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs139467119	chr2:177539039-177539040	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs368933055	chr2:177539047-177539048	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs529446201	chr2:177539073-177539074	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs547442679	chr2:177539075-177539076	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs4893914	chr2:177539076-177539077	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs114744585	chr2:177539154-177539155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539575828	chr2:177539224-177539225	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs4387837	chr2:177539233-177539234	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs551739790	chr2:177539238-177539239	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177534600-177540400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:177534800-177540400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:177534800-177540400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:177534800-177540800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:177534800-177543600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:177534800-177545600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:177535000-177540400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:177536000-177540600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:177536600-177539400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:177537000-177545200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:177537600-177538400	Enhancers	Colon Smooth Muscle	Colon
12	chr2:177538200-177538400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:177538200-177538600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:177538200-177538800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:177538400-177540200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:177538800-177540400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:177539200-177539800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:177539400-177539600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:177539600-177540000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:177540000-177541600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:177540200-177541000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:177540400-177540600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:177540400-177540600	Enhancers	GM12878-XiMat	blood
24	chr2:177540400-177540800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:177540400-177541000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:177540400-177541000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:177540400-177541000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:177540400-177541000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:177540400-177541200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:177540400-177541200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:177540400-177541400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:177540400-177541400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:177540600-177541200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:177540600-177541200	Enhancers	Fetal Heart	heart
35	chr2:177540800-177543400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:177540800-177543600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:177541000-177543400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:177541000-177543400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:177541000-177543800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:177541000-177544600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:177541200-177543800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:177541200-177543800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:177541400-177542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:177541400-177543400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:177541600-177542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:177542000-177542200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:177542200-177547200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:177542600-177544000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:177543200-177544200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:177543400-177543800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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