Variant report

Variant	nsv832609
Chromosome Location	chr13:50946577-51065968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1055)
CpG islands
(count:735)
Chromatin interactive
region (count:73)
LncRNA
region (count:111)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1055 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:50961229-50961419	K562	blood:	n/a	n/a
2	ARID3A	chr13:50951829-50952147	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:50995980-50996480	K562	blood:	n/a	n/a
4	ARID3A	chr13:50996990-50997430	K562	blood:	n/a	n/a
5	ARID3A	chr13:51024567-51024825	HepG2	liver:	n/a	n/a
6	ARID3A	chr13:50996052-50996230	HepG2	liver:	n/a	n/a
7	ARID3A	chr13:51034462-51034817	K562	blood:	n/a	n/a
8	ARID3A	chr13:50967944-50967946	K562	blood:	n/a	n/a
9	ARID3A	chr13:50985464-50985796	K562	blood:	n/a	n/a
10	ATF1	chr13:51034542-51034803	K562	blood:	n/a	n/a
11	ATF3	chr13:50985604-50985839	K562	blood:	n/a	n/a
12	ATF3	chr13:50985444-50985841	K562	blood:	n/a	n/a
13	BHLHE40	chr13:50985393-50985869	K562	blood:	n/a	n/a
14	BHLHE40	chr13:51026991-51026998	K562	blood:	n/a	n/a
15	BHLHE40	chr13:50961376-50961565	K562	blood:	n/a	n/a
16	BHLHE40	chr13:51058929-51058939	K562	blood:	n/a	n/a
17	BHLHE40	chr13:50977546-50977645	HepG2	liver:	n/a	n/a
18	BHLHE40	chr13:51024574-51024768	HepG2	liver:	n/a	n/a
19	BHLHE40	chr13:50996693-50997429	K562	blood:	n/a	n/a
20	BRCA1	chr13:50977582-50977647	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr13:50985446-50985875	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr13:50985406-50985899	K562	blood:	n/a	n/a
23	CBX3	chr13:50955092-50955429	K562	blood:	n/a	n/a
24	CBX3	chr13:50955140-50955389	K562	blood:	n/a	n/a
25	CCNT2	chr13:50985587-50985840	K562	blood:	n/a	n/a
26	CCNT2	chr13:51034560-51034823	K562	blood:	n/a	n/a
27	CEBPB	chr13:51007646-51007847	HepG2	liver:	n/a	n/a
28	CEBPB	chr13:51059624-51060125	A549	lung:	n/a	chr13:51060048-51060061 chr13:51060048-51060059 chr13:51060048-51060061 chr13:51060048-51060061
29	CEBPB	chr13:50991835-50992105	IMR90	lung:	n/a	chr13:50991993-50992004 chr13:50991995-50992004 chr13:50991993-50992006
30	CEBPB	chr13:51002966-51003154	K562	blood:	n/a	chr13:51003143-51003154
31	CEBPB	chr13:50963847-50963963	K562	blood:	n/a	n/a
32	CEBPB	chr13:50991830-50992124	K562	blood:	n/a	chr13:50991993-50992004 chr13:50991995-50992004 chr13:50991993-50992006
33	CEBPB	chr13:50960543-50961061	IMR90	lung:	n/a	chr13:50960914-50960925
34	CEBPB	chr13:50960819-50961016	HepG2	liver:	n/a	chr13:50960914-50960925
35	CEBPB	chr13:50967157-50967471	A549	lung:	n/a	chr13:50967323-50967334
36	CEBPB	chr13:51024626-51024724	H1-hESC	embryonic stem cell:	n/a	chr13:51024668-51024685 chr13:51024669-51024682 chr13:51024670-51024681
37	CEBPB	chr13:50967147-50967505	HepG2	liver:	n/a	chr13:50967323-50967334
38	CEBPB	chr13:51020730-51020876	HepG2	liver:	n/a	chr13:51020849-51020860
39	CEBPB	chr13:50977561-50977803	HepG2	liver:	n/a	n/a
40	CEBPB	chr13:50967154-50967502	K562	blood:	n/a	chr13:50967323-50967334
41	CEBPB	chr13:50967206-50967516	MCF-7	breast:	n/a	chr13:50967323-50967334
42	CEBPB	chr13:51059623-51060088	HepG2	liver:	n/a	chr13:51060048-51060061 chr13:51060048-51060059 chr13:51060048-51060061 chr13:51060048-51060061
43	CEBPB	chr13:50967158-50967432	H1-hESC	embryonic stem cell:	n/a	chr13:50967323-50967334
44	CEBPB	chr13:50985385-50985932	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr13:51033387-51033574	K562	blood:	n/a	n/a
46	CEBPB	chr13:50976370-50976601	A549	lung:	n/a	n/a
47	CEBPB	chr13:51024517-51024851	HepG2	liver:	n/a	chr13:51024668-51024685 chr13:51024669-51024682 chr13:51024670-51024681
48	CEBPB	chr13:51032269-51032322	A549	lung:	n/a	n/a
49	CEBPB	chr13:50991838-50992147	A549	lung:	n/a	chr13:50991993-50992004 chr13:50991995-50992004 chr13:50991993-50992006
50	CEBPB	chr13:50991860-50992114	Hela-S3	cervix:	n/a	chr13:50991993-50992004 chr13:50991995-50992004 chr13:50991993-50992006

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50995080-50995130	NT2-D1	testis:	n/a
2	chr13:51033148-51033198	CMK	blood:	n/a
3	chr13:51027597-51027647	NHBE	bronchial:	n/a
4	chr13:50995080-50995130	NT2-D1	testis:	n/a
5	chr13:51033148-51033198	CMK	blood:	n/a
6	chr13:51027597-51027647	NHBE	bronchial:	n/a
7	chr13:51033148-51033198	A549	lung:	n/a
8	chr13:50985639-50985689	NB4	blood:	n/a
9	chr13:50995080-50995130	Caco-2	colon:	n/a
10	chr13:51011701-51011751	PANC-1	pancreas:	n/a
11	chr13:51060599-51060649	NB4	blood:	n/a
12	chr13:51020511-51020561	BE2_C	brain:	n/a
13	chr13:51060599-51060649	HEEpiC	esophagus:	n/a
14	chr13:50997684-50997734	MCF-7	breast:	n/a
15	chr13:50997684-50997734	HCM	heart:	n/a
16	chr13:50985639-50985689	SK-N-SH	brain:	n/a
17	chr13:51020511-51020561	Hela-S3	cervix:	n/a
18	chr13:51033148-51033198	MCF-7	breast:	n/a
19	chr13:51020511-51020561	PANC-1	pancreas:	n/a
20	chr13:51020511-51020561	Hepatocyte	liver:	n/a
21	chr13:51060599-51060649	CMK	blood:	n/a
22	chr13:51020511-51020561	GM12892	blood:	n/a
23	chr13:51011701-51011751	Hepatocyte	liver:	n/a
24	chr13:51011701-51011751	HCPEpiC	choroid plexus:	n/a
25	chr13:50962761-50962811	AG09309	skin:	n/a
26	chr13:50995080-50995130	Hepatocyte	liver:	n/a
27	chr13:51011701-51011751	IMR90	lung:	fetal
28	chr13:50997684-50997734	GM19239	blood:	n/a
29	chr13:50962761-50962811	HNPCEpiC	eye:	n/a
30	chr13:50950265-50950315	HMEC	breast:	n/a
31	chr13:51027597-51027647	AoSMC	blood vessel:	n/a
32	chr13:51027597-51027647	HCT-116	colon:	n/a
33	chr13:51027597-51027647	PFSK-1	brain:	n/a
34	chr13:50961428-50961478	PrEC	prostate:	n/a
35	chr13:50962761-50962811	AG04449	skin:	fetal
36	chr13:50997684-50997734	AG09319	gingival:	n/a
37	chr13:50962761-50962811	SKMC	muscle:	n/a
38	chr13:50997684-50997734	PANC-1	pancreas:	n/a
39	chr13:50997684-50997734	Hepatocyte	liver:	n/a
40	chr13:50961428-50961478	NB4	blood:	n/a
41	chr13:51027597-51027647	GM12891	blood:	n/a
42	chr13:51033148-51033198	NHBE	bronchial:	n/a
43	chr13:50985639-50985689	ProgFib	skin:	n/a
44	chr13:51011701-51011751	SK-N-SH_RA	brain:	n/a
45	chr13:51011701-51011751	MCF10A-Er-Src	breast:	n/a
46	chr13:50962761-50962811	U87	brain:	n/a
47	chr13:50961428-50961478	AG04449	skin:	fetal
48	chr13:50962761-50962811	HCF	heart:	n/a
49	chr13:50975679-50975729	HepG2	liver:	n/a
50	chr13:50961428-50961478	T-47D	breast:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:50987523..50990101-chr13:50994967..50998319,3	K562	blood:
2	chr13:50664616..50667057-chr13:51038021..51040614,2	K562	blood:
3	chr13:50946211..50948229-chr13:50950966..50953692,2	K562	blood:
4	chr13:50973047..50975458-chr13:50984345..50987088,2	K562	blood:
5	chr13:50943769..50946768-chr13:50949049..50951856,2	MCF-7	breast:
6	chr13:50965877..50968068-chr13:50974962..50976646,2	MCF-7	breast:
7	chr13:50699120..50701231-chr13:50977977..50979669,2	K562	blood:
8	chr13:50698296..50700620-chr13:50977977..50980927,2	K562	blood:
9	chr13:51028188..51030046-chr13:51031680..51034469,2	K562	blood:
10	chr13:51014688..51017387-chr13:51026016..51029006,2	MCF-7	breast:
11	chr13:50994481..50996784-chr13:51024058..51026768,2	MCF-7	breast:
12	chr13:51021960..51023934-chr13:51029269..51032075,2	MCF-7	breast:
13	chr13:51035921..51038839-chr13:51039096..51041176,3	K562	blood:
14	chr13:51055961..51057791-chr13:51066613..51068471,2	MCF-7	breast:
15	chr13:50987349..50990834-chr13:50994333..50998319,5	K562	blood:
16	chr13:50965461..50967034-chr13:50967672..50970449,2	MCF-7	breast:
17	chr13:50965613..50967584-chr13:50985177..50987137,2	K562	blood:
18	chr13:51059299..51061286-chr13:51063138..51065247,2	MCF-7	breast:
19	chr12:132987438..132988105-chr13:51062911..51063480,2	MCF-7	breast:
20	chr13:50984955..50986600-chr13:50990801..50992508,2	K562	blood:
21	chr13:50994481..50996784-chr13:51024058..51026768,2	MCF-7	breast:
22	chr13:50939370..50941845-chr13:50950043..50952232,3	MCF-7	breast:
23	chr13:50976218..50978000-chr13:50981678..50984130,2	MCF-7	breast:
24	chr13:50568781..50571479-chr13:50962860..50965023,2	K562	blood:
25	chr13:51040236..51041817-chr13:51041887..51044596,2	MCF-7	breast:
26	chr13:50698404..50700652-chr13:51032560..51035012,2	MCF-7	breast:
27	chr13:51012510..51015441-chr13:51017155..51018787,2	MCF-7	breast:
28	chr13:51021960..51023934-chr13:51029269..51032075,2	MCF-7	breast:
29	chr13:50873919..50876478-chr13:51000494..51003075,2	K562	blood:
30	chr13:51032344..51035128-chr13:51035167..51037188,2	K562	blood:
31	chr13:50965613..50967584-chr13:50985177..50987137,2	K562	blood:
32	chr13:50697681..50699849-chr13:50994691..50997532,2	K562	blood:
33	chr13:50696699..50698604-chr13:50990333..50993085,2	MCF-7	breast:
34	chr13:50986197..50988129-chr13:50991660..50994011,2	K562	blood:
35	chr13:51012510..51015441-chr13:51017155..51018787,2	MCF-7	breast:
36	chr13:50984955..50986600-chr13:50990801..50992508,2	K562	blood:
37	chr13:50999195..51000016-chr6:117926177..117926868,2	MCF-7	breast:
38	chr11:77240122..77240720-chr13:51006078..51007038,2	MCF-7	breast:
39	chr13:51059299..51061286-chr13:51063138..51065247,2	MCF-7	breast:
40	chr13:51042795..51044976-chr13:51046435..51049054,2	K562	blood:
41	chr13:50995789..50999098-chr13:50999435..51002324,3	K562	blood:
42	chr13:50995789..50999098-chr13:50999435..51002324,3	K562	blood:
43	chr13:50984531..50986156-chr13:50996985..50999573,2	K562	blood:
44	chr13:50984531..50986156-chr13:50996985..50999573,2	K562	blood:
45	chr13:50965461..50967034-chr13:50967672..50970449,2	MCF-7	breast:
46	chr13:50946211..50948229-chr13:50950966..50953692,2	K562	blood:
47	chr13:51028188..51030046-chr13:51031680..51034469,2	K562	blood:
48	chr13:50947157..50949330-chr13:50957372..50959831,2	MCF-7	breast:
49	chr13:50992353..50994644-chr13:50995445..50997351,2	K562	blood:
50	chr13:50991815..50995325-chr13:50995340..50998331,4	K562	blood:

(count:111 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASEH2B-3	chr13:50989225-50989338	NONHSAT033817
2	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033842
3	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033819
4	lnc-RNASEH2B-3	chr13:50982797-50983011	NONHSAT033854
5	lnc-RNASEH2B-3	chr13:50989225-50989338	NONHSAT033846
6	lnc-RNASEH2B-3	chr13:50964334-50964427	NONHSAT033835
7	lnc-RNASEH2B-3	chr13:50989225-50989338	XLOC_010390
8	lnc-RNASEH2B-3	chr13:51007549-51007686	XLOC_010390
9	lnc-RNASEH2B-3	chr13:50975362-50975502	XLOC_010390
10	lnc-RNASEH2B-3	chr13:50989225-50989338	NONHSAT033813
11	lnc-RNASEH2B-3	chr13:50964334-50964427	NONHSAT033815
12	lnc-RNASEH2B-3	chr13:50989225-50989338	NONHSAT033843
13	lnc-RNASEH2B-3	chr13:50989225-50989338	NONHSAT033859
14	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033857
15	lnc-RNASEH2B-3	chr13:50989226-50989338	NONHSAT033812
16	lnc-RNASEH2B-3	chr13:50964334-50964427	NONHSAT033813
17	lnc-RNASEH2B-3	chr13:50975601-50975775	NONHSAT033850
18	lnc-RNASEH2B-3	chr13:50964334-50964427	NONHSAT033834
19	lnc-RNASEH2B-3	chr13:50989225-50989338	NONHSAT140131
20	lnc-RNASEH2B-3	chr13:50989225-50989338	NONHSAT033819
21	lnc-RNASEH2B-3	chr13:50987114-50987265	NONHSAT033854
22	lnc-RNASEH2B-3	chr13:51007550-51007686	NONHSAT033847
23	lnc-RNASEH2B-3	chr13:50963223-50963688	NONHSAT033836
24	lnc-RNASEH2B-3	chr13:50982190-50982598	XLOC_010390
25	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033825
26	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033824
27	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033856
28	lnc-RNASEH2B-3	chr13:51007549-51007686	XLOC_010390
29	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033818
30	lnc-RNASEH2B-3	chr13:50964383-50964427	XLOC_010390
31	lnc-RNASEH2B-3	chr13:50975362-50975502	NONHSAT033833
32	lnc-RNASEH2B-3	chr13:50964334-50964427	NONHSAT033836
33	lnc-RNASEH2B-3	chr13:50978567-50978660	XLOC_010390
34	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033813
35	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033846
36	lnc-RNASEH2B-3	chr13:50989225-50989338	XLOC_010390
37	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033823
38	lnc-RNASEH2B-3	chr13:51007549-51007686	XLOC_010390
39	lnc-RNASEH2B-3	chr13:50978567-50978660	XLOC_010390
40	lnc-RNASEH2B-3	chr13:51007549-51007686	NONHSAT033811
41	lnc-RNASEH2B-3	chr13:50989226-50989338	NONHSAT033854
42	lnc-RNASEH2B-3	chr13:50964334-50964427	NONHSAT033829
43	lnc-RNASEH2B-3	chr13:50989225-50989338	NONHSAT033855
44	lnc-RNASEH2B-3	chr13:50975363-50975502	NONHSAT033832
45	lnc-RNASEH2B-3	chr13:50989225-50989338	NONHSAT033842
46	lnc-RNASEH2B-3	chr13:50964334-50964427	NONHSAT033843
47	lnc-RNASEH2B-3	chr13:51032139-51032249	NONHSAT033823
48	lnc-DLEU7-8	chr13:50952495-50953503	NONHSAT033841
49	lnc-RNASEH2B-3	chr13:50964334-50964427	NR_109974
50	lnc-RNASEH2B-3	chr13:50982190-50983258	XLOC_010390

No data

Variant related genes	Relation type
DLEU1	TF binding region
DLEU1	CpG island
ENSG00000264864	chromatin interactions
ENSG00000231607	chromatin interactions
ENSG00000176124	chromatin interactions
ENSG00000204977	chromatin interactions
AFF4	miRNA target sites
DCX	miRNA target sites
FAIM	miRNA target sites
POU2F2	miRNA target sites
NACC2	miRNA target sites
SIRT1	miRNA target sites

Extended variants
information (count: 3857 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:3857 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538367495	chr13:50946579-50946580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190074371	chr13:50946589-50946590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182083354	chr13:50946609-50946610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543364453	chr13:50946611-50946612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564944572	chr13:50946694-50946695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532249154	chr13:50946695-50946696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547405120	chr13:50946717-50946718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187128325	chr13:50946721-50946722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529890707	chr13:50946751-50946752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548264969	chr13:50946752-50946753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146668494	chr13:50946757-50946758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367825251	chr13:50946793-50946794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140369237	chr13:50946847-50946848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577122470	chr13:50946861-50946862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189512965	chr13:50946894-50946895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1262872	chr13:50946941-50946942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554201947	chr13:50946974-50946975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572587748	chr13:50946991-50946992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573138948	chr13:50947056-50947057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557524383	chr13:50947118-50947119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554744114	chr13:50947151-50947152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1262871	chr13:50947166-50947167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575041219	chr13:50947253-50947254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543533798	chr13:50947284-50947285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564917967	chr13:50947287-50947288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577204327	chr13:50947306-50947307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180686169	chr13:50947332-50947333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537704635	chr13:50947405-50947406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530767260	chr13:50947426-50947427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559435545	chr13:50947462-50947463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530005194	chr13:50947593-50947594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143613665	chr13:50947632-50947633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372534169	chr13:50947640-50947641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530591354	chr13:50947687-50947688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376882780	chr13:50947824-50947825	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs60182478	chr13:50947852-50947853	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs185115090	chr13:50947856-50947857	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs534361353	chr13:50947880-50947881	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs548063304	chr13:50947895-50947896	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs566192661	chr13:50947940-50947941	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs537258878	chr13:50947943-50947944	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs17461503	chr13:50947983-50947984	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs183104664	chr13:50948008-50948009	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs61962086	chr13:50948032-50948033	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs546405356	chr13:50948137-50948138	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs537134919	chr13:50948167-50948168	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs559917798	chr13:50948177-50948178	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs2812218	chr13:50948178-50948179	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs17461592	chr13:50948260-50948261	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191523170	chr13:50948298-50948299	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1683 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50939800-50953400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50940200-50952600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:50941000-50951200	Weak transcription	HepG2	liver
4	chr13:50941600-50952400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr13:50941800-50950200	Weak transcription	Gastric	stomach
6	chr13:50943000-50953600	Weak transcription	Psoas Muscle	Psoas
7	chr13:50944600-50952600	Weak transcription	Fetal Heart	heart
8	chr13:50946200-50949800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:50946400-50949800	Weak transcription	Fetal Lung	lung
10	chr13:50946600-50948200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:50948200-50948400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:50948400-50952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:50948600-50948800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:50948800-50949600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:50949200-50949800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:50949200-50950200	Enhancers	HSMM	muscle
17	chr13:50949400-50950400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:50949400-50950600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:50949600-50950000	Enhancers	Osteobl	bone
20	chr13:50949600-50950400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:50949800-50950000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr13:50949800-50950200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:50949800-50950200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:50949800-50950200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:50949800-50950200	Active TSS	HSMMtube	muscle
26	chr13:50949800-50950200	Enhancers	NH-A	brain
27	chr13:50949800-50950400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr13:50949800-50950400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:50949800-50950400	Enhancers	NHDF-Ad	bronchial
30	chr13:50950000-50950200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:50950000-50950200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr13:50950000-50950200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr13:50950000-50950200	Enhancers	Fetal Lung	lung
34	chr13:50950000-50950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:50950000-50950400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr13:50950000-50950400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:50950000-50950400	Enhancers	Brain Anterior Caudate	brain
38	chr13:50950000-50950400	Enhancers	NHLF	lung
39	chr13:50950000-50950400	Flanking Active TSS	Osteobl	bone
40	chr13:50950000-50950600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr13:50950000-50951000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr13:50950000-50954000	Enhancers	Fetal Thymus	thymus
43	chr13:50950200-50950400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:50950200-50950400	Enhancers	Gastric	stomach
45	chr13:50950200-50950400	Flanking Active TSS	HSMM	muscle
46	chr13:50950200-50950400	Flanking Active TSS	HSMMtube	muscle
47	chr13:50950200-50950400	Flanking Active TSS	NH-A	brain
48	chr13:50950200-50950800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr13:50950200-50951400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr13:50950200-50953000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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