Variant report

Variant	nsv1000177
Chromosome Location	chr4:10212245-10557776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2740)
CpG islands
(count:2320)
Chromatin interactive
region (count:332)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2740 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:10241023-10241142	K562	blood:	n/a	n/a
2	ARID3A	chr4:10459741-10459919	K562	blood:	n/a	n/a
3	ARID3A	chr4:10460913-10461399	K562	blood:	n/a	n/a
4	ARID3A	chr4:10416844-10416961	K562	blood:	n/a	n/a
5	ARID3A	chr4:10373102-10373103	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:10258670-10258802	K562	blood:	n/a	n/a
7	ARID3A	chr4:10556264-10556699	K562	blood:	n/a	n/a
8	ARID3A	chr4:10286746-10287065	K562	blood:	n/a	n/a
9	ARID3A	chr4:10242016-10242400	K562	blood:	n/a	n/a
10	ARID3A	chr4:10539570-10539891	K562	blood:	n/a	n/a
11	ARID3A	chr4:10405152-10405708	K562	blood:	n/a	n/a
12	ARID3A	chr4:10539745-10539913	HepG2	liver:	n/a	n/a
13	ARID3A	chr4:10327415-10328296	K562	blood:	n/a	n/a
14	ATF1	chr4:10241521-10242349	K562	blood:	n/a	n/a
15	ATF1	chr4:10327430-10328176	K562	blood:	n/a	n/a
16	ATF3	chr4:10286691-10286995	K562	blood:	n/a	n/a
17	ATF3	chr4:10497303-10497547	K562	blood:	n/a	n/a
18	ATF3	chr4:10241484-10241931	K562	blood:	n/a	chr4:10241683-10241696
19	ATF3	chr4:10551304-10551560	GM12878	blood:	n/a	n/a
20	ATF3	chr4:10462880-10463147	K562	blood:	n/a	n/a
21	BACH1	chr4:10458630-10459108	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr4:10277398-10277423	K562	blood:	n/a	n/a
23	BACH1	chr4:10296613-10296622	K562	blood:	n/a	n/a
24	BACH1	chr4:10446374-10446389	K562	blood:	n/a	n/a
25	BACH1	chr4:10258150-10258286	K562	blood:	n/a	n/a
26	BACH1	chr4:10461300-10461416	K562	blood:	n/a	n/a
27	BACH1	chr4:10236419-10236458	K562	blood:	n/a	n/a
28	BACH1	chr4:10306752-10306755	K562	blood:	n/a	n/a
29	BACH1	chr4:10291449-10291596	K562	blood:	n/a	n/a
30	BACH1	chr4:10444197-10445521	K562	blood:	n/a	n/a
31	BACH1	chr4:10462826-10463788	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr4:10462736-10463370	K562	blood:	n/a	n/a
33	BATF	chr4:10537483-10537720	GM12878	blood:	n/a	n/a
34	BATF	chr4:10440575-10440842	GM12878	blood:	n/a	chr4:10440756-10440766
35	BATF	chr4:10461948-10462177	GM12878	blood:	n/a	n/a
36	BATF	chr4:10537480-10537757	GM12878	blood:	n/a	n/a
37	BHLHE40	chr4:10215328-10215399	K562	blood:	n/a	n/a
38	BHLHE40	chr4:10551433-10551593	K562	blood:	n/a	n/a
39	BHLHE40	chr4:10511488-10511709	K562	blood:	n/a	n/a
40	BHLHE40	chr4:10241629-10242291	K562	blood:	n/a	n/a
41	BHLHE40	chr4:10353695-10353726	K562	blood:	n/a	n/a
42	BHLHE40	chr4:10239996-10240058	K562	blood:	n/a	n/a
43	BHLHE40	chr4:10405415-10405586	K562	blood:	n/a	n/a
44	BHLHE40	chr4:10286618-10286919	K562	blood:	n/a	n/a
45	BHLHE40	chr4:10462903-10463146	GM12878	blood:	n/a	chr4:10462953-10462969 chr4:10462950-10462966 chr4:10462947-10462963 chr4:10462949-10462965
46	BHLHE40	chr4:10387822-10388106	K562	blood:	n/a	n/a
47	BHLHE40	chr4:10497301-10497575	HepG2	liver:	n/a	n/a
48	BHLHE40	chr4:10376277-10376477	K562	blood:	n/a	n/a
49	BHLHE40	chr4:10531035-10531100	K562	blood:	n/a	n/a
50	BHLHE40	chr4:10458951-10459247	GM12878	blood:	n/a	chr4:10459125-10459141

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:10458454-10458504	MCF-7	breast:	n/a
2	chr4:10459141-10459191	HMEC	breast:	n/a
3	chr4:10458454-10458504	MCF-7	breast:	n/a
4	chr4:10459141-10459191	HMEC	breast:	n/a
5	chr4:10458454-10458504	U87	brain:	n/a
6	chr4:10462903-10462953	GM19239	blood:	n/a
7	chr4:10461465-10461515	IMR90	lung:	fetal
8	chr4:10531768-10531818	Hepatocyte	liver:	n/a
9	chr4:10447440-10447490	HCPEpiC	choroid plexus:	n/a
10	chr4:10463256-10463306	T-47D	breast:	n/a
11	chr4:10460009-10460059	ECC-1	luminal epithelium:	n/a
12	chr4:10458667-10458717	SAEC	small airway:	n/a
13	chr4:10463350-10463400	HUVEC	blood vessel:	n/a
14	chr4:10412057-10412107	A549	lung:	n/a
15	chr4:10467319-10467369	H1-hESC	embryonic stem cell:	embryo
16	chr4:10335492-10335542	T-47D	breast:	n/a
17	chr4:10498037-10498087	SK-N-MC	brain:	n/a
18	chr4:10456597-10456647	Caco-2	colon:	n/a
19	chr4:10462849-10462899	SK-N-SH_RA	brain:	n/a
20	chr4:10462849-10462899	HRE	kidney:	n/a
21	chr4:10335492-10335542	GM12892	blood:	n/a
22	chr4:10463590-10463640	HEEpiC	esophagus:	n/a
23	chr4:10462849-10462899	A549	lung:	n/a
24	chr4:10463620-10463670	ovcar-3	ovarian:	n/a
25	chr4:10462849-10462899	HRCEpiC	kidney:	n/a
26	chr4:10458454-10458504	K562	blood:	n/a
27	chr4:10335492-10335542	ProgFib	skin:	n/a
28	chr4:10531768-10531818	HMEC	breast:	n/a
29	chr4:10460009-10460059	BJ	skin:	n/a
30	chr4:10459435-10459485	GM19239	blood:	n/a
31	chr4:10463749-10463799	NHDF-neo	bronchial:	n/a
32	chr4:10463350-10463400	MCF-7	breast:	n/a
33	chr4:10460009-10460059	HCPEpiC	choroid plexus:	n/a
34	chr4:10458918-10458968	GM12891	blood:	n/a
35	chr4:10459132-10459182	AG04450	lung:	fetal
36	chr4:10458049-10458099	HAEpiC	amniotic membrane:	n/a
37	chr4:10458049-10458099	GM12892	blood:	n/a
38	chr4:10458165-10458215	HAEpiC	amniotic membrane:	n/a
39	chr4:10460237-10460287	NB4	blood:	n/a
40	chr4:10460009-10460059	NT2-D1	testis:	n/a
41	chr4:10463620-10463670	PFSK-1	brain:	n/a
42	chr4:10467319-10467369	MCF10A-Er-Src	breast:	n/a
43	chr4:10531768-10531818	AoSMC	blood vessel:	n/a
44	chr4:10458667-10458717	Caco-2	colon:	n/a
45	chr4:10531768-10531818	PANC-1	pancreas:	n/a
46	chr4:10458918-10458968	PrEC	prostate:	n/a
47	chr4:10459352-10459402	ovcar-3	ovarian:	n/a
48	chr4:10459929-10459979	NB4	blood:	n/a
49	chr4:10459228-10459278	Caco-2	colon:	n/a
50	chr4:10463749-10463799	NT2-D1	testis:	n/a

(count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr4:10298581..10300458-chr4:10305111..10307586,2	K562	blood:
2	chr4:10116877..10119746-chr4:10350370..10353025,2	K562	blood:
3	chr4:10436735..10439258-chr4:10444645..10446611,2	K562	blood:
4	chr4:10300976..10303713-chr4:10304138..10305960,3	K562	blood:
5	chr4:10290044..10292857-chr4:10295207..10297834,2	K562	blood:
6	chr4:10122860..10124582-chr4:10454402..10456296,2	K562	blood:
7	chr4:10447047..10450143-chr4:10544780..10547664,3	K562	blood:
8	chr4:10168181..10169847-chr4:10460956..10462626,2	K562	blood:
9	chr4:10483820..10485837-chr4:10490038..10492249,2	K562	blood:
10	chr4:10436735..10439258-chr4:10444645..10446611,2	K562	blood:
11	chr4:10439495..10442453-chr4:10454853..10458527,4	K562	blood:
12	chr4:10240628..10243680-chr4:10247596..10249776,3	K562	blood:
13	chr4:10278587..10280479-chr4:10297418..10299087,2	K562	blood:
14	chr4:10390019..10393146-chr4:10400722..10404569,4	K562	blood:
15	chr4:10211963..10215052-chr4:10219787..10222880,4	K562	blood:
16	chr4:10385942..10388810-chr4:10389542..10391176,2	K562	blood:
17	chr4:10298581..10300458-chr4:10305111..10307586,2	K562	blood:
18	chr4:10117842..10119536-chr4:10257217..10259311,2	K562	blood:
19	chr4:10362193..10364438-chr4:10456296..10459241,2	K562	blood:
20	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
21	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:
22	chr4:10436820..10442109-chr4:10453962..10457876,6	K562	blood:
23	chr4:10187220..10189194-chr4:10403510..10406450,3	K562	blood:
24	chr4:10161526..10162602-chr4:10405096..10406350,5	K562	blood:
25	chr4:10109397..10110994-chr4:10487986..10490652,2	K562	blood:
26	chr4:10377322..10379936-chr4:10386087..10389023,2	K562	blood:
27	chr4:10121764..10123838-chr4:10222085..10224894,2	K562	blood:
28	chr4:10326481..10328401-chr4:10338341..10340263,2	K562	blood:
29	chr4:10159016..10159805-chr4:10405257..10406163,3	MCF-7	breast:
30	chr4:10236259..10238046-chr4:10240029..10241603,2	K562	blood:
31	chr4:10161679..10162563-chr4:10550963..10551528,2	K562	blood:
32	chr4:10346990..10348791-chr4:10349503..10352332,2	K562	blood:
33	chr4:10338266..10339875-chr4:10342241..10344480,2	K562	blood:
34	chr4:10419551..10421094-chr4:10421815..10424714,2	K562	blood:
35	chr4:10119817..10121406-chr4:10243789..10245878,2	K562	blood:
36	chr4:10320256..10323019-chr4:10334627..10337093,2	K562	blood:
37	chr4:10481628..10483228-chr4:10483399..10484967,2	K562	blood:
38	chr4:10242448..10244811-chr4:10340269..10342798,2	K562	blood:
39	chr4:10354223..10360652-chr4:10361257..10369062,7	K562	blood:
40	chr4:10206033..10207589-chr4:10220077..10222198,2	K562	blood:
41	chr4:10164883..10167477-chr4:10450300..10452643,2	K562	blood:
42	chr4:10234367..10237486-chr4:10239791..10244033,5	K562	blood:
43	chr4:10413005..10416502-chr4:10417554..10421094,3	K562	blood:
44	chr4:10234367..10236533-chr4:10242137..10244033,2	K562	blood:
45	chr19:17416908..17417590-chr4:10322243..10323174,2	Hela-S3	cervix:
46	chr4:10182435..10184114-chr4:10441654..10444481,2	K562	blood:
47	chr4:10305228..10307997-chr4:10310331..10312718,2	K562	blood:
48	chr4:10117390..10120335-chr4:10557571..10560347,2	K562	blood:
49	chr4:10406734..10408445-chr4:10443381..10446084,2	K562	blood:
50	chr4:10329017..10330933-chr4:10334130..10336518,2	K562	blood:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD5-18	chr4:10359894-10360314	l_2604_chr4:10348296-10419642_testes
2	lnc-DRD5-4	chr4:10404495-10404649	NONHSAT095495
3	lnc-CLNK-2	chr4:10456218-10456612	NONHSAT095501
4	lnc-CLNK-2	chr4:10458758-10458800	NONHSAT095503
5	lnc-WDR1-11	chr4:10269519-10269855	NONHSAT095492
6	lnc-DRD5-18	chr4:10419449-10419642	l_2604_chr4:10348296-10419642_testes
7	lnc-CLNK-2	chr4:10452511-10456612	NONHSAT095503
8	lnc-DRD5-4	chr4:10409553-10409610	FPKM1_group_22843_transcript_2
9	lnc-ZNF518B-1	chr4:10433041-10433567	NONHSAT095498
10	lnc-DRD5-18	chr4:10348297-10348499	l_2604_chr4:10348296-10419642_testes
11	lnc-CLNK-1	chr4:10480148-10480547	NONHSAT095504
12	lnc-ZNF518B-3	chr4:10286585-10287332	NONHSAT095493
13	lnc-WDR1-9	chr4:10256550-10258245	NONHSAT095490
14	lnc-CLNK-2	chr4:10452511-10454646	NONHSAT095501
15	lnc-CLNK-2	chr4:10458941-10459034	NONHSAT095502
16	lnc-WDR1-10	chr4:10261069-10261762	NONHSAT095491
17	lnc-DRD5-20	chr4:10436252-10437668	NONHSAT095499
18	lnc-DRD5-4	chr4:10409553-10410132	NONHSAT095495
19	lnc-DRD5-18	chr4:10348828-10349271	l_2604_chr4:10348296-10419642_testes
20	lnc-DRD5-19	chr4:10437730-10438054	NONHSAT095500
21	lnc-DRD5-20	chr4:10439848-10440173	NONHSAT095499
22	lnc-DRD5-4	chr4:10404495-10404649	FPKM1_group_22843_transcript_2
23	lnc-DRD5-18	chr4:10369809-10369975	l_2604_chr4:10348296-10419642_testes
24	lnc-DRD5-18	chr4:10352660-10352812	l_2604_chr4:10348296-10419642_testes
25	lnc-ZNF518B-2	chr4:10293819-10294332	NONHSAT095494
26	lnc-CLNK-2	chr4:10452511-10456612	NONHSAT095502
27	lnc-DRD5-21	chr4:10486610-10487079	NONHSAT095505
28	lnc-CLNK-2	chr4:10458941-10459032	NONHSAT095501

No data

Variant related genes	Relation type
ZNF518B	TF binding region
ENSG00000251338	TF binding region
ENSG00000271544	TF binding region
ENSG00000251278	TF binding region
ENSG00000250573	TF binding region
ENSG00000250040	TF binding region
CLNK	TF binding region
ENSG00000250505	TF binding region
ENSG00000250613	TF binding region
ENSG00000250074	TF binding region
ENSG00000248419	TF binding region
ZNF518B	CpG island
ENSG00000251338	CpG island
ENSG00000271544	CpG island
ENSG00000251278	CpG island
ENSG00000250573	CpG island
ENSG00000250040	CpG island
CLNK	CpG island
ENSG00000250505	CpG island
ENSG00000250613	CpG island
ENSG00000250074	CpG island
ENSG00000248419	CpG island
ENSG00000109684	chromatin interactions
ENSG00000248419	chromatin interactions
ENSG00000251338	chromatin interactions
ENSG00000141140	chromatin interactions
ENSG00000251296	chromatin interactions
ENSG00000250040	chromatin interactions
ENSG00000223086	chromatin interactions
ENSG00000250074	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000271544	chromatin interactions
ENSG00000250613	chromatin interactions
ENSG00000250505	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000248777	chromatin interactions
ENSG00000250573	chromatin interactions
ENSG00000251278	chromatin interactions
ENSG00000184886	chromatin interactions
ENSG00000178163	chromatin interactions

Extended variants
information (count: 17467 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:17467 , 50 per page) page: 1 2 3 4 5 6 7 ... 350

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150724676	chr4:10212252-10212253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs57376186	chr4:10212257-10212258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567444457	chr4:10212287-10212288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62286315	chr4:10212293-10212294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557405489	chr4:10212299-10212300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181261572	chr4:10212387-10212388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539466657	chr4:10212430-10212431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs58447316	chr4:10212434-10212435	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573206420	chr4:10212518-10212519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139074622	chr4:10212559-10212560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553174927	chr4:10212626-10212627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149480162	chr4:10212662-10212663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185322921	chr4:10212667-10212668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73092202	chr4:10212715-10212716	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544006170	chr4:10212822-10212823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574916044	chr4:10212832-10212833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562911498	chr4:10212870-10212871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374129558	chr4:10212871-10212872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189739515	chr4:10212888-10212889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200618015	chr4:10212889-10212890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374814321	chr4:10212923-10212924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs180670606	chr4:10212990-10212991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187655586	chr4:10213050-10213051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73093905	chr4:10213070-10213071	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560149219	chr4:10213110-10213111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145978553	chr4:10213139-10213140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549258002	chr4:10213140-10213141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567378657	chr4:10213157-10213158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562994582	chr4:10213311-10213312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139689231	chr4:10213319-10213320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10001965	chr4:10213327-10213328	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116256575	chr4:10213349-10213350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144442586	chr4:10213358-10213359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146140956	chr4:10213360-10213361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148798084	chr4:10213385-10213386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73093906	chr4:10213408-10213409	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534246969	chr4:10213464-10213465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs62286316	chr4:10213513-10213514	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574212910	chr4:10213529-10213530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191922040	chr4:10213549-10213550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528151182	chr4:10213615-10213616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556433175	chr4:10213641-10213642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368434233	chr4:10213653-10213654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75373575	chr4:10213664-10213665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183786797	chr4:10213690-10213691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151251657	chr4:10213707-10213708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73093907	chr4:10213798-10213799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527258247	chr4:10213810-10213811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10155064	chr4:10213847-10213848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561251911	chr4:10213868-10213869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:2589 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10207200-10214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10207800-10214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:10212000-10212400	Enhancers	HUVEC	blood vessel
4	chr4:10212200-10214800	Weak transcription	K562	blood
5	chr4:10212400-10213600	Weak transcription	HUVEC	blood vessel
6	chr4:10213600-10214200	Enhancers	HUVEC	blood vessel
7	chr4:10213600-10214800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:10213600-10215000	Enhancers	NHEK	skin
9	chr4:10213800-10214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:10214000-10215000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:10214600-10215200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:10214800-10215400	Enhancers	K562	blood
13	chr4:10215200-10215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:10215400-10219400	Weak transcription	K562	blood
15	chr4:10215600-10216200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:10216200-10220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:10219400-10220000	Enhancers	K562	blood
18	chr4:10220000-10222400	Weak transcription	K562	blood
19	chr4:10222400-10223400	Enhancers	K562	blood
20	chr4:10223400-10233800	Weak transcription	K562	blood
21	chr4:10225800-10227600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr4:10226000-10227400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr4:10226400-10227000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr4:10228000-10228400	Enhancers	Osteobl	bone
25	chr4:10228000-10229000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:10228200-10229000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:10233400-10234600	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:10233800-10234600	Enhancers	K562	blood
29	chr4:10234600-10236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:10234600-10238600	Weak transcription	K562	blood
31	chr4:10238000-10257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:10238600-10241800	Enhancers	K562	blood
33	chr4:10239800-10244200	Enhancers	HSMMtube	muscle
34	chr4:10240600-10243600	Enhancers	Fetal Heart	heart
35	chr4:10241000-10241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:10241200-10243000	Enhancers	Fetal Stomach	stomach
37	chr4:10241400-10242000	Enhancers	Brain Hippocampus Middle	brain
38	chr4:10241800-10242200	Flanking Active TSS	K562	blood
39	chr4:10241800-10242800	Enhancers	Fetal Muscle Leg	muscle
40	chr4:10242000-10242600	Enhancers	Left Ventricle	heart
41	chr4:10242200-10246200	Enhancers	K562	blood
42	chr4:10242400-10242800	Enhancers	Fetal Lung	lung
43	chr4:10243600-10246200	Weak transcription	Fetal Heart	heart
44	chr4:10244000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:10246200-10246600	Weak transcription	K562	blood
46	chr4:10246400-10246600	Enhancers	Fetal Heart	heart
47	chr4:10246600-10248200	Enhancers	K562	blood
48	chr4:10246800-10248200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr4:10247000-10247200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr4:10247200-10247400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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