Variant report

Variant	nsv1038102
Chromosome Location	chr10:43441601-43642908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3168)
CpG islands
(count:4028)
Chromatin interactive
region (count:336)
LncRNA
region (count:17)
Mature miRNA
region (count: 1)
miRNA target
sites (count:3)

(count:3168 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:43634496-43634777	K562	blood:	n/a	n/a
2	ARID3A	chr10:43601022-43601255	HepG2	liver:	n/a	n/a
3	ARID3A	chr10:43635813-43636289	HepG2	liver:	n/a	n/a
4	ARID3A	chr10:43633656-43633853	K562	blood:	n/a	n/a
5	ARID3A	chr10:43636176-43636244	K562	blood:	n/a	n/a
6	ARID3A	chr10:43601076-43601148	K562	blood:	n/a	n/a
7	ATF1	chr10:43474055-43474377	K562	blood:	n/a	n/a
8	ATF1	chr10:43474747-43475125	K562	blood:	n/a	n/a
9	ATF1	chr10:43624724-43625125	K562	blood:	n/a	n/a
10	ATF2	chr10:43616307-43616713	GM12878	blood:	n/a	n/a
11	ATF2	chr10:43616271-43616613	GM12878	blood:	n/a	n/a
12	ATF2	chr10:43600926-43601267	GM12878	blood:	n/a	n/a
13	ATF3	chr10:43605698-43605963	GM12878	blood:	n/a	chr10:43605892-43605901
14	ATF3	chr10:43605779-43605949	K562	blood:	n/a	chr10:43605892-43605901
15	ATF3	chr10:43605769-43605874	GM12878	blood:	n/a	n/a
16	ATF3	chr10:43633540-43633993	K562	blood:	n/a	chr10:43633875-43633884
17	BACH1	chr10:43521962-43522259	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr10:43508437-43508606	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr10:43542430-43542484	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr10:43446835-43448123	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr10:43600017-43601367	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr10:43455879-43456257	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr10:43601044-43601195	K562	blood:	n/a	n/a
24	BACH1	chr10:43598601-43598610	K562	blood:	n/a	n/a
25	BACH1	chr10:43633674-43633806	K562	blood:	n/a	n/a
26	BACH1	chr10:43633040-43634439	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr10:43616317-43616618	GM12878	blood:	n/a	n/a
28	BATF	chr10:43616337-43616703	GM12878	blood:	n/a	n/a
29	BATF	chr10:43635866-43636221	GM12878	blood:	n/a	n/a
30	BCL3	chr10:43455972-43456235	GM12878	blood:	n/a	n/a
31	BCL3	chr10:43633715-43634073	GM12878	blood:	n/a	chr10:43633933-43633942 chr10:43633881-43633890
32	BCLAF1	chr10:43633188-43634180	GM12878	blood:	n/a	chr10:43633628-43633641 chr10:43633933-43633942 chr10:43633881-43633890
33	BCLAF1	chr10:43633582-43634023	GM12878	blood:	n/a	chr10:43633628-43633641 chr10:43633933-43633942 chr10:43633881-43633890
34	BHLHE40	chr10:43636018-43636232	HepG2	liver:	n/a	n/a
35	BHLHE40	chr10:43633577-43634603	GM12878	blood:	n/a	chr10:43633926-43633942
36	BHLHE40	chr10:43574476-43574611	K562	blood:	n/a	n/a
37	BHLHE40	chr10:43635878-43636421	GM12878	blood:	n/a	n/a
38	BHLHE40	chr10:43605670-43606046	GM12878	blood:	n/a	n/a
39	BHLHE40	chr10:43624807-43625091	K562	blood:	n/a	n/a
40	BHLHE40	chr10:43605688-43606015	K562	blood:	n/a	n/a
41	BHLHE40	chr10:43616423-43616753	GM12878	blood:	n/a	n/a
42	BHLHE40	chr10:43574377-43574555	HepG2	liver:	n/a	n/a
43	BHLHE40	chr10:43633404-43634518	K562	blood:	n/a	chr10:43633926-43633942
44	BHLHE40	chr10:43604992-43605096	K562	blood:	n/a	n/a
45	BHLHE40	chr10:43484487-43484837	K562	blood:	n/a	n/a
46	BHLHE40	chr10:43600953-43601265	K562	blood:	n/a	chr10:43601124-43601140 chr10:43601094-43601110
47	BHLHE40	chr10:43626177-43626181	K562	blood:	n/a	n/a
48	BHLHE40	chr10:43476829-43477169	K562	blood:	n/a	chr10:43476970-43476986
49	BHLHE40	chr10:43600562-43601406	GM12878	blood:	n/a	chr10:43601124-43601140 chr10:43601094-43601110
50	BRCA1	chr10:43633642-43633919	Hela-S3	cervix:	n/a	n/a

(count:4028 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43572467-43572517	T-47D	breast:	n/a
2	chr10:43633807-43633857	K562	blood:	n/a
3	chr10:43572467-43572517	T-47D	breast:	n/a
4	chr10:43633807-43633857	K562	blood:	n/a
5	chr10:43573319-43573369	BE2_C	brain:	n/a
6	chr10:43572244-43572294	SAEC	small airway:	n/a
7	chr10:43626431-43626481	GM19239	blood:	n/a
8	chr10:43637359-43637409	HRCEpiC	kidney:	n/a
9	chr10:43605906-43605956	MCF10A-Er-Src	breast:	n/a
10	chr10:43634384-43634434	HRPEpiC	eye:	n/a
11	chr10:43585188-43585238	MCF-7	breast:	n/a
12	chr10:43633958-43634008	PANC-1	pancreas:	n/a
13	chr10:43600239-43600289	HMEC	breast:	n/a
14	chr10:43572065-43572115	U87	brain:	n/a
15	chr10:43572424-43572474	SK-N-SH_RA	brain:	n/a
16	chr10:43633958-43634008	HCM	heart:	n/a
17	chr10:43572359-43572409	HNPCEpiC	eye:	n/a
18	chr10:43601862-43601912	SKMC	muscle:	n/a
19	chr10:43599566-43599616	PrEC	prostate:	n/a
20	chr10:43522343-43522393	HCPEpiC	choroid plexus:	n/a
21	chr10:43601916-43601966	CMK	blood:	n/a
22	chr10:43572359-43572409	HRPEpiC	eye:	n/a
23	chr10:43626471-43626521	MCF10A-Er-Src	breast:	n/a
24	chr10:43600497-43600547	AG10803	skin:	n/a
25	chr10:43633827-43633877	SKMC	muscle:	n/a
26	chr10:43603918-43603968	Jurkat	blood:	n/a
27	chr10:43634423-43634473	HRCEpiC	kidney:	n/a
28	chr10:43633961-43634011	HNPCEpiC	eye:	n/a
29	chr10:43562813-43562863	HPAEpiC	pulmonary alveolar:	n/a
30	chr10:43600706-43600756	Jurkat	blood:	n/a
31	chr10:43633793-43633843	HepG2	liver:	n/a
32	chr10:43604667-43604717	U87	brain:	n/a
33	chr10:43572430-43572480	H1-hESC	embryonic stem cell:	embryo
34	chr10:43634384-43634434	U87	brain:	n/a
35	chr10:43573332-43573382	Hepatocyte	liver:	n/a
36	chr10:43633258-43633308	GM12878	blood:	n/a
37	chr10:43572795-43572845	Hepatocyte	liver:	n/a
38	chr10:43634329-43634379	GM19239	blood:	n/a
39	chr10:43629317-43629367	AoSMC	blood vessel:	n/a
40	chr10:43601862-43601912	HMEC	breast:	n/a
41	chr10:43600706-43600756	K562	blood:	n/a
42	chr10:43602387-43602437	Hepatocyte	liver:	n/a
43	chr10:43573319-43573369	U87	brain:	n/a
44	chr10:43507407-43507457	HPAEpiC	pulmonary alveolar:	n/a
45	chr10:43602387-43602437	LNCaP	prostate:	n/a
46	chr10:43599476-43599526	PANC-1	pancreas:	n/a
47	chr10:43605906-43605956	GM19239	blood:	n/a
48	chr10:43600706-43600756	Caco-2	colon:	n/a
49	chr10:43634212-43634262	AG04450	lung:	fetal
50	chr10:43572244-43572294	GM06990	blood:	n/a

(count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr10:43474227..43476529-chr10:43479652..43481353,2	MCF-7	breast:
2	chr10:43361928..43362761-chr10:43600658..43601529,2	MCF-7	breast:
3	chr10:43448104..43449836-chr10:43453416..43456002,2	MCF-7	breast:
4	chr10:43471330..43471857-chr3:38035458..38036022,2	NB4	blood:
5	chr10:43521844..43522463-chr10:43539904..43540728,3	MCF-7	breast:
6	chr10:43463562..43467082-chr10:43469575..43473842,3	MCF-7	breast:
7	chr10:43583134..43585872-chr10:43588187..43591197,3	MCF-7	breast:
8	chr10:43448104..43449836-chr10:43453416..43456002,2	MCF-7	breast:
9	chr10:43470988..43471723-chr10:43574194..43574824,2	MCF-7	breast:
10	chr10:43574441..43574987-chr10:43601035..43601611,2	K562	blood:
11	chr10:43494956..43496475-chr10:43498262..43500423,2	K562	blood:
12	chr10:43521558..43522630-chr10:43533126..43534073,11	MCF-7	breast:
13	chr10:43632409..43636039-chr10:43698014..43700588,4	K562	blood:
14	chr10:43601071..43602866-chr10:43603676..43605812,2	K562	blood:
15	chr10:43477135..43480872-chr10:43482623..43485089,4	MCF-7	breast:
16	chr10:43531494..43533212-chr10:43549327..43551773,2	MCF-7	breast:
17	chr10:43623070..43625100-chr10:43630988..43633446,2	MCF-7	breast:
18	chr10:43537183..43538884-chr10:43539008..43541736,2	MCF-7	breast:
19	chr10:43521597..43522422-chr10:43563847..43564424,2	MCF-7	breast:
20	chr10:43602925..43605448-chr10:43606836..43609634,2	K562	blood:
21	chr10:43594982..43596781-chr10:43603444..43605896,2	MCF-7	breast:
22	chr10:43627846..43629812-chr10:43949742..43951842,2	MCF-7	breast:
23	chr10:43472048..43472812-chr11:819441..820070,2	NB4	blood:
24	chr10:43521523..43522449-chr10:43577293..43578240,8	MCF-7	breast:
25	chr10:43624978..43626803-chr10:43789083..43792063,2	K562	blood:
26	chr10:43564728..43567195-chr10:43570638..43572674,3	MCF-7	breast:
27	chr10:43523012..43526703-chr10:43531691..43534469,3	MCF-7	breast:
28	chr10:43476503..43477844-chr10:43606043..43606921,3	MCF-7	breast:
29	chr10:43477135..43480872-chr10:43482623..43485089,4	MCF-7	breast:
30	chr10:43521937..43524113-chr10:43534529..43536882,2	MCF-7	breast:
31	chr10:43578754..43580371-chr10:43586605..43589212,2	MCF-7	breast:
32	chr10:43535157..43537866-chr10:43555666..43557650,2	K562	blood:
33	chr10:43521611..43522326-chr10:43577256..43578049,6	MCF-7	breast:
34	chr10:43511982..43514503-chr10:43520094..43521790,2	MCF-7	breast:
35	chr10:43465926..43467640-chr10:43469651..43471316,2	K562	blood:
36	chr10:43516622..43519495-chr10:43560494..43562660,2	MCF-7	breast:
37	chr10:43521915..43522534-chr10:43604245..43605068,2	MCF-7	breast:
38	chr10:43544147..43547451-chr10:43554029..43556833,3	MCF-7	breast:
39	chr10:43563253..43566538-chr10:43567124..43569938,3	K562	blood:
40	chr10:43495233..43497382-chr10:43502437..43504369,2	MCF-7	breast:
41	chr10:43520674..43522630-chr10:43627624..43629272,2	MCF-7	breast:
42	chr10:43495233..43497382-chr10:43502437..43504369,2	MCF-7	breast:
43	chr10:43369343..43371320-chr10:43469616..43472165,2	MCF-7	breast:
44	chr10:43633265..43635390-chr10:43638781..43641016,3	MCF-7	breast:
45	chr10:43539794..43541332-chr10:43557128..43559148,2	MCF-7	breast:
46	chr10:43523482..43525302-chr10:43587306..43589145,2	MCF-7	breast:
47	chr10:43556705..43558416-chr10:43560624..43562176,2	MCF-7	breast:
48	chr10:43616246..43618061-chr10:43622272..43624625,2	K562	blood:
49	chr10:43472744..43475645-chr10:43482853..43485433,2	K562	blood:
50	chr10:43511982..43514503-chr10:43520094..43521790,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RET-3	chr10:43486575-43486975	ucscGeneNc_uc001jba_2
2	lnc-RET-3	chr10:43487762-43487899	ucscGeneNc_uc001jba_2
3	lnc-RET-2	chr10:43482124-43482459	NONHSAT012938
4	lnc-RASGEF1A-1	chr10:43474465-43474547	XLOC_008790
5	lnc-RET-3	chr10:43487172-43487532	ucscGeneNc_uc001jba_2
6	lnc-RASGEF1A-3	chr10:43594036-43594080	NONHSAT012942
7	lnc-RASGEF1A-1	chr10:43476816-43476955	XLOC_008790
8	lnc-RASGEF1A-2	chr10:43632272-43633782	ENSG00000273008.1
9	lnc-RET-2	chr10:43481122-43481247	NONHSAT012938
10	lnc-RET-3	chr10:43489288-43490153	ucscGeneNc_uc001jba_2
11	lnc-RET-3	chr10:43444271-43444432	ucscGeneNc_uc001jba_2
12	lnc-RASGEF1A-3	chr10:43593016-43593304	NONHSAT012941
13	lnc-RASGEF1A-3	chr10:43594036-43594323	l_302_chr10:43593021-43594323_testes
14	lnc-RASGEF1A-1	chr10:43475731-43476007	XLOC_008790
15	lnc-RASGEF1A-3	chr10:43594161-43594279	NONHSAT012941
16	lnc-RASGEF1A-3	chr10:43593022-43593304	l_302_chr10:43593021-43594323_testes
17	lnc-RASGEF1A-3	chr10:43593016-43593304	NONHSAT012942

miRNA name	Chromosome Location	mirBase accession
hsa-miR-5100	chr10:43493078-43493099	MIMAT0022259

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	RET	hsa-miR-31-5p	chr10:43622893-43622913
2	RET	hsa-miR-29a-3p	chr10:43622857-43622877
3	RET	hsa-miR-31-5p	chr10:43622906-43622913

Variant related genes	Relation type
MIR5100	TF binding region
ENSG00000229630	TF binding region
RET	TF binding region
ENSG00000273008	TF binding region
CSGALNACT2	TF binding region
MIR5100	CpG island
ENSG00000229630	CpG island
RET	CpG island
ENSG00000273008	CpG island
CSGALNACT2	CpG island
ENSG00000177885	chromatin interactions
ENSG00000127774	chromatin interactions
ENSG00000263795	chromatin interactions
ENSG00000198915	chromatin interactions
ENSG00000234944	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000165731	chromatin interactions
ENSG00000110330	chromatin interactions
ENSG00000185000	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000229630	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000265342	chromatin interactions
ENSG00000109519	chromatin interactions
ENSG00000213977	chromatin interactions
ENSG00000136059	chromatin interactions
ENSG00000077458	chromatin interactions
ENSG00000166037	chromatin interactions
ENSG00000169826	chromatin interactions
ENSG00000138780	chromatin interactions
ENSG00000273008	chromatin interactions
ENSG00000138785	chromatin interactions

Extended variants
information (count: 8085 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:8085 , 50 per page) page: 1 2 3 4 5 6 7 ... 162

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192150716	chr10:43444391-43444392	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs545934659	chr10:43444412-43444413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs533004180	chr10:43444413-43444414	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs573309605	chr10:43446025-43446026	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs550365674	chr10:43446035-43446036	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs568631592	chr10:43446065-43446066	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs570467181	chr10:43446093-43446094	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs373790474	chr10:43446119-43446120	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs534003780	chr10:43446170-43446171	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs559079461	chr10:43446180-43446181	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs575250961	chr10:43446196-43446197	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs577543059	chr10:43446203-43446204	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117165185	chr10:43446212-43446213	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563219328	chr10:43446217-43446218	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113130466	chr10:43446218-43446219	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77947964	chr10:43446294-43446295	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181249640	chr10:43446324-43446325	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2488278	chr10:43446335-43446336	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546409870	chr10:43446344-43446345	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554298683	chr10:43446376-43446377	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566537237	chr10:43446459-43446460	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564614799	chr10:43446473-43446474	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532220570	chr10:43446481-43446482	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550352002	chr10:43446513-43446514	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200477158	chr10:43446525-43446526	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568820948	chr10:43446530-43446531	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539526157	chr10:43446574-43446575	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78659640	chr10:43446581-43446582	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536128961	chr10:43446589-43446590	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548580343	chr10:43446590-43446591	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185757453	chr10:43446593-43446594	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12251314	chr10:43446601-43446602	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534177238	chr10:43446659-43446660	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559142829	chr10:43446661-43446662	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114666000	chr10:43446789-43446790	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372342995	chr10:43446798-43446799	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191601688	chr10:43446815-43446816	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535318189	chr10:43446849-43446850	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556750819	chr10:43446875-43446876	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150309758	chr10:43446890-43446891	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs74135428	chr10:43446899-43446900	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560822201	chr10:43446910-43446911	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs572777645	chr10:43446922-43446923	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs182232519	chr10:43446939-43446940	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs61843457	chr10:43446964-43446965	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187391134	chr10:43447021-43447022	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs12241976	chr10:43447036-43447037	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs562308047	chr10:43447062-43447063	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs368245035	chr10:43447071-43447072	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs115865596	chr10:43447159-43447160	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2998 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43446000-43446800	Bivalent Enhancer	Fetal Stomach	stomach
2	chr10:43446000-43447600	Enhancers	Fetal Lung	lung
3	chr10:43446200-43446600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:43446200-43447200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:43446200-43448000	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr10:43446400-43446800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr10:43446400-43446800	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr10:43446400-43446800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
9	chr10:43446400-43447400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr10:43446400-43448000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr10:43446600-43446800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr10:43446600-43446800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:43446600-43446800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:43446600-43446800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:43446600-43446800	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr10:43446600-43446800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr10:43446600-43447000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:43446600-43447000	Bivalent Enhancer	Colon Smooth Muscle	Colon
19	chr10:43446600-43447000	Enhancers	Pancreas	Pancrea
20	chr10:43446600-43447200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:43446600-43447200	Enhancers	Primary hematopoietic stem cells	blood
22	chr10:43446600-43447200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:43446600-43447400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:43446600-43447400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
25	chr10:43446600-43447600	Bivalent Enhancer	Fetal Brain Male	brain
26	chr10:43446600-43447600	Bivalent Enhancer	Placenta	Placenta
27	chr10:43446600-43447600	Enhancers	Ovary	ovary
28	chr10:43446600-43447800	Enhancers	Fetal Heart	heart
29	chr10:43446600-43448000	Enhancers	Esophagus	oesophagus
30	chr10:43446600-43448000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr10:43446800-43447000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr10:43446800-43447000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:43446800-43447000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr10:43446800-43447000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr10:43446800-43447000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:43446800-43447000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr10:43446800-43447000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr10:43446800-43447000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:43446800-43447000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:43446800-43447000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
41	chr10:43446800-43447000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
42	chr10:43446800-43447000	Bivalent Enhancer	Brain Substantia Nigra	brain
43	chr10:43446800-43447000	Bivalent/Poised TSS	Colonic Mucosa	Colon
44	chr10:43446800-43447000	Bivalent Enhancer	Right Ventricle	heart
45	chr10:43446800-43447000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr10:43446800-43447000	Bivalent Enhancer	NHDF-Ad	bronchial
47	chr10:43446800-43447200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:43446800-43447200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
49	chr10:43446800-43447200	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr10:43446800-43447200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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