Variant report

Variant	nsv3800
Chromosome Location	chr3:46961648-47007241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2382)
CpG islands
(count:427)
Chromatin interactive
region (count:119)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2382 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:46977010-46977323	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:46976932-46977220	K562	blood:	n/a	n/a
3	ARID3A	chr3:46985004-46985837	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:46988788-46988959	HepG2	liver:	n/a	n/a
5	ATF1	chr3:46989486-46990111	K562	blood:	n/a	n/a
6	ATF1	chr3:46976960-46977290	K562	blood:	n/a	n/a
7	ATF2	chr3:46969828-46970287	GM12878	blood:	n/a	n/a
8	ATF2	chr3:46969695-46970252	GM12878	blood:	n/a	n/a
9	ATF2	chr3:46994846-46995501	GM12878	blood:	n/a	n/a
10	ATF2	chr3:46976885-46977383	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr3:46973072-46973554	GM12878	blood:	n/a	n/a
12	ATF2	chr3:46968187-46969163	GM12878	blood:	n/a	n/a
13	ATF2	chr3:46997232-46997893	GM12878	blood:	n/a	n/a
14	ATF2	chr3:46976976-46977405	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr3:46968000-46969217	GM12878	blood:	n/a	n/a
16	ATF2	chr3:46994829-46995549	GM12878	blood:	n/a	n/a
17	ATF3	chr3:46976788-46977357	K562	blood:	n/a	n/a
18	ATF3	chr3:46988784-46989136	K562	blood:	n/a	n/a
19	ATF3	chr3:46976907-46977301	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF3	chr3:46989486-46990133	K562	blood:	n/a	n/a
21	ATF3	chr3:46976913-46977291	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr3:46984893-46985424	A549	lung:	n/a	n/a
23	ATF3	chr3:46976991-46977251	K562	blood:	n/a	n/a
24	ATF3	chr3:46976989-46977251	HepG2	liver:	n/a	n/a
25	ATF3	chr3:46976879-46977318	A549	lung:	n/a	n/a
26	ATF3	chr3:46976910-46977322	A549	lung:	n/a	n/a
27	BACH1	chr3:46977031-46977317	H1-hESC	embryonic stem cell:	n/a	chr3:46977129-46977143
28	BACH1	chr3:46965161-46965206	H1-hESC	embryonic stem cell:	n/a	n/a
29	BATF	chr3:46968682-46969062	GM12878	blood:	n/a	n/a
30	BATF	chr3:46973132-46973507	GM12878	blood:	n/a	n/a
31	BATF	chr3:46985051-46985394	GM12878	blood:	n/a	chr3:46985221-46985230
32	BATF	chr3:46968434-46969163	GM12878	blood:	n/a	n/a
33	BCL11A	chr3:46968481-46969092	GM12878	blood:	n/a	chr3:46968830-46968839
34	BCL11A	chr3:46968317-46969205	GM12878	blood:	n/a	chr3:46968830-46968839
35	BCL3	chr3:46968409-46969107	GM12878	blood:	n/a	chr3:46968830-46968839
36	BCL3	chr3:46968088-46969113	GM12878	blood:	n/a	chr3:46968830-46968839 chr3:46968099-46968108
37	BCLAF1	chr3:46995097-46995852	GM12878	blood:	n/a	n/a
38	BCLAF1	chr3:46968176-46969225	GM12878	blood:	n/a	chr3:46968830-46968839
39	BCLAF1	chr3:46997182-46998074	GM12878	blood:	n/a	n/a
40	BCLAF1	chr3:46968264-46969431	GM12878	blood:	n/a	chr3:46968830-46968839
41	BCLAF1	chr3:46969729-46970253	GM12878	blood:	n/a	n/a
42	BCLAF1	chr3:46969704-46970363	GM12878	blood:	n/a	n/a
43	BHLHE40	chr3:46974353-46974431	K562	blood:	n/a	n/a
44	BHLHE40	chr3:46984988-46985606	HepG2	liver:	n/a	n/a
45	BHLHE40	chr3:47000588-47001131	GM12878	blood:	n/a	n/a
46	BHLHE40	chr3:46990537-46991072	K562	blood:	n/a	n/a
47	BHLHE40	chr3:46968344-46969227	GM12878	blood:	n/a	n/a
48	BHLHE40	chr3:47001837-47001972	GM12878	blood:	n/a	n/a
49	BHLHE40	chr3:47006719-47007008	GM12878	blood:	n/a	n/a
50	BHLHE40	chr3:46967863-46968014	GM12878	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46977532-46977582	Hela-S3	cervix:	n/a
2	chr3:46974965-46975015	GM12891	blood:	n/a
3	chr3:46990143-46990193	HCM	heart:	n/a
4	chr3:46985840-46985890	CMK	blood:	n/a
5	chr3:46985840-46985890	Hepatocyte	liver:	n/a
6	chr3:46977532-46977582	HPAEpiC	pulmonary alveolar:	n/a
7	chr3:46977532-46977582	PrEC	prostate:	n/a
8	chr3:46974965-46975015	A549	lung:	n/a
9	chr3:46996484-46996534	NHBE	bronchial:	n/a
10	chr3:46973284-46973334	BE2_C	brain:	n/a
11	chr3:46974965-46975015	GM06990	blood:	n/a
12	chr3:46990143-46990193	SK-N-MC	brain:	n/a
13	chr3:46977532-46977582	HNPCEpiC	eye:	n/a
14	chr3:46977532-46977582	AoSMC	blood vessel:	n/a
15	chr3:46977532-46977582	H1-hESC	embryonic stem cell:	embryo
16	chr3:46973284-46973334	HEEpiC	esophagus:	n/a
17	chr3:47005092-47005142	SK-N-SH	brain:	n/a
18	chr3:46977532-46977582	ovcar-3	ovarian:	n/a
19	chr3:46996484-46996534	H1-hESC	embryonic stem cell:	embryo
20	chr3:46996484-46996534	GM12891	blood:	n/a
21	chr3:46985840-46985890	T-47D	breast:	n/a
22	chr3:46973284-46973334	PFSK-1	brain:	n/a
23	chr3:47005092-47005142	HUVEC	blood vessel:	n/a
24	chr3:46990143-46990193	HCPEpiC	choroid plexus:	n/a
25	chr3:46990143-46990193	Hela-S3	cervix:	n/a
26	chr3:46974965-46975015	AG04449	skin:	fetal
27	chr3:46990143-46990193	NB4	blood:	n/a
28	chr3:46990143-46990193	A549	lung:	n/a
29	chr3:46977532-46977582	PFSK-1	brain:	n/a
30	chr3:46990143-46990193	ovcar-3	ovarian:	n/a
31	chr3:46996484-46996534	HEEpiC	esophagus:	n/a
32	chr3:46996484-46996534	HepG2	liver:	n/a
33	chr3:46977532-46977582	GM12878	blood:	n/a
34	chr3:46996484-46996534	NB4	blood:	n/a
35	chr3:46985840-46985890	PrEC	prostate:	n/a
36	chr3:46973284-46973334	K562	blood:	n/a
37	chr3:46973284-46973334	PANC-1	pancreas:	n/a
38	chr3:46974965-46975015	SK-N-SH_RA	brain:	n/a
39	chr3:46974965-46975015	SKMC	muscle:	n/a
40	chr3:47005092-47005142	HepG2	liver:	n/a
41	chr3:46974965-46975015	HRCEpiC	kidney:	n/a
42	chr3:46977532-46977582	ProgFib	skin:	n/a
43	chr3:46973284-46973334	H1-hESC	embryonic stem cell:	embryo
44	chr3:46985840-46985890	A549	lung:	n/a
45	chr3:47005092-47005142	MCF-7	breast:	n/a
46	chr3:46973284-46973334	GM12878	blood:	n/a
47	chr3:46990143-46990193	Caco-2	colon:	n/a
48	chr3:46974965-46975015	AG09309	skin:	n/a
49	chr3:46974965-46975015	HNPCEpiC	eye:	n/a
50	chr3:46977532-46977582	Hepatocyte	liver:	n/a

(count:119 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:46966170..46968321-chr3:47021061..47023040,2	K562	blood:
2	chr3:46990736..46992416-chr3:47023933..47026692,2	K562	blood:
3	chr3:46993850..46995776-chr3:46997950..47000879,2	MCF-7	breast:
4	chr3:46983771..46985594-chr3:46988811..46991272,2	MCF-7	breast:
5	chr3:46962117..46964738-chr3:47204547..47206100,2	MCF-7	breast:
6	chr3:46733445..46736212-chr3:46971481..46974071,3	MCF-7	breast:
7	chr3:46971047..46973675-chr3:47000415..47002568,2	MCF-7	breast:
8	chr3:46966646..46969252-chr3:47031389..47034280,2	MCF-7	breast:
9	chr3:46979851..46982380-chr3:47022307..47025277,2	MCF-7	breast:
10	chr3:46976166..46978368-chr3:47023917..47025847,2	MCF-7	breast:
11	chr3:46988825..46991481-chr3:46997444..47000413,2	MCF-7	breast:
12	chr3:46988617..46992704-chr3:46994196..46998366,6	K562	blood:
13	chr3:46966733..46968938-chr3:47035742..47038273,2	K562	blood:
14	chr3:46983607..46987334-chr3:46993451..46998407,5	K562	blood:
15	chr3:46970325..46973197-chr3:47005456..47008384,2	MCF-7	breast:
16	chr3:46979992..46983614-chr3:46988969..46991376,3	MCF-7	breast:
17	chr3:46965883..46969429-chr3:47022291..47025425,4	MCF-7	breast:
18	chr3:46964872..46965611-chr3:47030738..47031577,2	MCF-7	breast:
19	chr3:46975644..46977508-chr3:47038452..47040651,2	K562	blood:
20	chr3:46968594..46970505-chr3:47016848..47019482,2	K562	blood:
21	chr3:46944631..46946726-chr3:46962663..46964611,2	K562	blood:
22	chr3:46992891..46995361-chr3:47004607..47007374,2	MCF-7	breast:
23	chr3:46975584..46977390-chr3:46978479..46982012,3	MCF-7	breast:
24	chr3:47000992..47003826-chr3:47019439..47023758,5	MCF-7	breast:
25	chr3:46988418..46991129-chr3:46992863..46994642,3	MCF-7	breast:
26	chr3:46988617..46992704-chr3:46994196..46998366,6	K562	blood:
27	chr3:46970325..46973197-chr3:47005456..47008384,2	MCF-7	breast:
28	chr3:46987488..46994423-chr3:47016253..47019914,6	MCF-7	breast:
29	chr3:46984582..46987726-chr3:46988178..46990594,3	K562	blood:
30	chr3:46984582..46987726-chr3:46988178..46990594,3	K562	blood:
31	chr3:46986447..46988013-chr3:47007335..47010204,2	MCF-7	breast:
32	chr3:46983607..46987334-chr3:46993451..46998407,5	K562	blood:
33	chr3:46966739..46968792-chr3:46972024..46974475,2	K562	blood:
34	chr3:46974856..46983636-chr3:47025231..47032249,9	K562	blood:
35	chr3:46987136..46991583-chr3:47027983..47031367,6	K562	blood:
36	chr3:46995234..46997010-chr3:47011388..47013253,2	K562	blood:
37	chr3:46988980..46994216-chr3:47016439..47022535,7	K562	blood:
38	chr3:46968433..46974874-chr3:46985986..46991697,10	MCF-7	breast:
39	chr3:46975584..46977390-chr3:46978479..46982012,3	MCF-7	breast:
40	chr3:46969295..46972082-chr3:46977350..46978888,2	K562	blood:
41	chr3:46986886..46990722-chr3:47020544..47025137,5	MCF-7	breast:
42	chr3:46942667..46944620-chr3:46986480..46988761,2	K562	blood:
43	chr3:46983771..46985594-chr3:46988811..46991272,2	MCF-7	breast:
44	chr3:46989415..46991130-chr3:47009222..47011268,2	MCF-7	breast:
45	chr3:46973841..46975600-chr3:47001098..47002983,2	MCF-7	breast:
46	chr3:46968433..46974874-chr3:46985986..46991697,10	MCF-7	breast:
47	chr3:46989186..46991293-chr3:47035849..47039529,3	K562	blood:
48	chr3:46962526..46964084-chr3:46970657..46972462,2	K562	blood:
49	chr3:46983597..46986093-chr3:46988070..46989778,2	MCF-7	breast:
50	chr3:46979541..46981499-chr3:47001280..47002981,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYL3-1	chr3:46966780-46967025	NONHSAT089465
2	lnc-MYL3-1	chr3:46963238-46965649	NONHSAT089464
3	lnc-MYL3-1	chr3:46982488-46982555	NONHSAT089465

No data

Variant related genes	Relation type
CCDC12	TF binding region
CCDC12	CpG island
ENSG00000163993	chromatin interactions
ENSG00000160801	chromatin interactions
ENSG00000160796	chromatin interactions
ENSG00000260236	chromatin interactions
ENSG00000178038	chromatin interactions
ENSG00000076201	chromatin interactions
ENSG00000160799	chromatin interactions
ENSG00000181555	chromatin interactions
ENSG00000227398	chromatin interactions

Extended variants
information (count: 1640 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1640 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543590944	chr3:46961653-46961654	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs558677245	chr3:46961667-46961668	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577522600	chr3:46961705-46961706	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555004213	chr3:46961719-46961720	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs192306507	chr3:46961722-46961723	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs182933268	chr3:46961740-46961741	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35210032	chr3:46961791-46961792	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs367723145	chr3:46961803-46961804	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs575045483	chr3:46961830-46961831	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs80044662	chr3:46961866-46961867	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs72897623	chr3:46961891-46961892	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13327489	chr3:46961910-46961911	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535236962	chr3:46961956-46961957	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552290357	chr3:46961968-46961969	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564200165	chr3:46962009-46962010	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs532178637	chr3:46962040-46962041	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs78399435	chr3:46962057-46962058	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565850525	chr3:46962062-46962063	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs536578087	chr3:46962072-46962073	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs13327498	chr3:46962110-46962111	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35153818	chr3:46962111-46962112	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537005620	chr3:46962211-46962212	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs369966889	chr3:46962212-46962213	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs578108963	chr3:46962213-46962214	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs35923550	chr3:46962284-46962285	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs577128804	chr3:46962334-46962335	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs558691620	chr3:46962346-46962347	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs191720723	chr3:46962375-46962376	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs184340559	chr3:46962407-46962408	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs553568072	chr3:46962566-46962567	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs116242412	chr3:46962658-46962659	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs187833779	chr3:46962734-46962735	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs192174316	chr3:46962743-46962744	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs545926339	chr3:46962761-46962762	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs575601523	chr3:46962790-46962791	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs545745708	chr3:46962813-46962814	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs374331425	chr3:46962817-46962818	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs34207078	chr3:46962827-46962828	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145543284	chr3:46962965-46962966	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs370318434	chr3:46963001-46963002	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs35199141	chr3:46963031-46963032	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs6442040	chr3:46963035-46963036	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs148880308	chr3:46963060-46963061	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs75800160	chr3:46963062-46963063	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs142312769	chr3:46963068-46963069	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs543012990	chr3:46963087-46963088	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs377158504	chr3:46963101-46963102	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs75645775	chr3:46963110-46963111	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs537067753	chr3:46963113-46963114	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs552170800	chr3:46963444-46963445	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2845 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46950600-46961800	Weak transcription	Aorta	Aorta
2	chr3:46951600-46961800	Weak transcription	HepG2	liver
3	chr3:46951600-46962400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:46955800-46961800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:46955800-46961800	Weak transcription	Psoas Muscle	Psoas
6	chr3:46955800-46964800	Weak transcription	Right Atrium	heart
7	chr3:46956000-46962000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:46956400-46965200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr3:46956600-46967200	Strong transcription	Thymus	Thymus
10	chr3:46956800-46966600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:46957000-46964600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr3:46957000-46965400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr3:46957200-46964800	Weak transcription	Fetal Heart	heart
14	chr3:46957800-46966600	Strong transcription	Fetal Thymus	thymus
15	chr3:46957800-46967200	Strong transcription	HSMM	muscle
16	chr3:46958200-46964800	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr3:46958200-46966800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr3:46958200-46967200	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr3:46958200-46967600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:46958200-46968200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr3:46958200-46968800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:46958400-46962600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:46958400-46965200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:46958400-46965200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:46958400-46966800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:46958400-46967200	Strong transcription	HMEC	breast
27	chr3:46958400-46967600	Strong transcription	Primary T cells from cord blood	blood
28	chr3:46958400-46967800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:46958400-46968200	Strong transcription	Dnd41	blood
30	chr3:46958600-46962600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:46958600-46962800	ZNF genes & repeats	GM12878-XiMat	blood
32	chr3:46958600-46963200	Strong transcription	HUVEC	blood vessel
33	chr3:46958600-46964600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:46958600-46964600	Strong transcription	Fetal Brain Male	brain
35	chr3:46958600-46964800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr3:46958600-46965000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:46958600-46965200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:46958600-46965200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:46958600-46965200	Strong transcription	Fetal Intestine Large	intestine
40	chr3:46958600-46965600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr3:46958600-46966400	Strong transcription	Placenta	Placenta
42	chr3:46958600-46966600	Strong transcription	Adipose Nuclei	Adipose
43	chr3:46958600-46966800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:46958600-46966800	Strong transcription	HSMMtube	muscle
45	chr3:46958600-46967000	Strong transcription	Brain Anterior Caudate	brain
46	chr3:46958600-46967200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:46958600-46967400	Strong transcription	Liver	Liver
48	chr3:46958600-46967800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:46958600-46968000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:46958600-46970200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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