Variant report

Variant	nsv1004703
Chromosome Location	chr3:236668-969518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3290)
CpG islands
(count:2445)
Chromatin interactive
region (count:81)
LncRNA
region (count:50)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:3290 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:534692-534822	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:418748-419094	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:291259-291870	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:305517-307368	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:455772-456068	HepG2	liver:	n/a	chr3:455850-455866
6	ATF2	chr3:254017-254518	GM12878	blood:	n/a	n/a
7	ATF2	chr3:319964-320748	GM12878	blood:	n/a	n/a
8	ATF2	chr3:331761-332103	GM12878	blood:	n/a	n/a
9	ATF2	chr3:254098-254530	GM12878	blood:	n/a	n/a
10	ATF2	chr3:319829-320847	GM12878	blood:	n/a	n/a
11	ATF3	chr3:306304-306760	A549	lung:	n/a	n/a
12	BACH1	chr3:577662-577951	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr3:271174-271333	K562	blood:	n/a	n/a
14	BACH1	chr3:888492-888519	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr3:541423-541496	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr3:238302-238499	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr3:954485-954653	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr3:516562-516874	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr3:238826-240389	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr3:462357-462600	GM12878	blood:	n/a	chr3:462485-462494
21	BATF	chr3:259675-259847	GM12878	blood:	n/a	n/a
22	BATF	chr3:319974-320310	GM12878	blood:	n/a	n/a
23	BATF	chr3:892892-893121	GM12878	blood:	n/a	chr3:892988-892999
24	BATF	chr3:341729-341996	GM12878	blood:	n/a	n/a
25	BATF	chr3:462277-462661	GM12878	blood:	n/a	chr3:462485-462494
26	BATF	chr3:599789-600089	GM12878	blood:	n/a	chr3:599953-599962
27	BATF	chr3:954370-954767	GM12878	blood:	n/a	chr3:954539-954550 chr3:954567-954578 chr3:954595-954606
28	BATF	chr3:505464-505768	GM12878	blood:	n/a	n/a
29	BATF	chr3:254085-254416	GM12878	blood:	n/a	n/a
30	BATF	chr3:515014-515376	GM12878	blood:	n/a	chr3:515252-515263
31	BATF	chr3:599827-600084	GM12878	blood:	n/a	chr3:599953-599962
32	BATF	chr3:515030-515408	GM12878	blood:	n/a	chr3:515252-515263
33	BATF	chr3:638972-639242	GM12878	blood:	n/a	chr3:639093-639102
34	BATF	chr3:319906-320293	GM12878	blood:	n/a	n/a
35	BATF	chr3:320384-320805	GM12878	blood:	n/a	n/a
36	BATF	chr3:892848-893082	GM12878	blood:	n/a	chr3:892988-892999
37	BATF	chr3:954466-954707	GM12878	blood:	n/a	chr3:954539-954550 chr3:954567-954578 chr3:954595-954606
38	BCL11A	chr3:319927-320341	GM12878	blood:	n/a	chr3:320201-320210 chr3:320061-320069
39	BCL11A	chr3:954445-954734	GM12878	blood:	n/a	n/a
40	BCL11A	chr3:319942-320280	GM12878	blood:	n/a	chr3:320201-320210 chr3:320061-320069
41	BCL3	chr3:306315-306750	A549	lung:	n/a	n/a
42	BCL3	chr3:306168-306863	A549	lung:	n/a	chr3:306285-306294 chr3:306282-306291
43	BCL3	chr3:320464-320727	GM12878	blood:	n/a	n/a
44	BCLAF1	chr3:320388-320763	GM12878	blood:	n/a	n/a
45	BCLAF1	chr3:599656-600200	GM12878	blood:	n/a	chr3:599779-599788 chr3:599826-599835
46	BHLHE40	chr3:260263-260618	GM12878	blood:	n/a	n/a
47	BHLHE40	chr3:846853-846863	GM12878	blood:	n/a	n/a
48	BHLHE40	chr3:543200-543216	GM12878	blood:	n/a	n/a
49	BHLHE40	chr3:462348-462658	GM12878	blood:	n/a	n/a
50	BHLHE40	chr3:401416-401710	GM12878	blood:	n/a	n/a

(count:2445 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:285234-285284	Caco-2	colon:	n/a
2	chr3:350892-350942	NB4	blood:	n/a
3	chr3:350602-350652	H1-hESC	embryonic stem cell:	embryo
4	chr3:350682-350732	SAEC	small airway:	n/a
5	chr3:238931-238981	BE2_C	brain:	n/a
6	chr3:285234-285284	Caco-2	colon:	n/a
7	chr3:350892-350942	NB4	blood:	n/a
8	chr3:350602-350652	H1-hESC	embryonic stem cell:	embryo
9	chr3:350682-350732	SAEC	small airway:	n/a
10	chr3:238931-238981	BE2_C	brain:	n/a
11	chr3:491979-492029	PrEC	prostate:	n/a
12	chr3:271185-271235	U87	brain:	n/a
13	chr3:239188-239238	PrEC	prostate:	n/a
14	chr3:350602-350652	MCF10A-Er-Src	breast:	n/a
15	chr3:523012-523062	AG04450	lung:	fetal
16	chr3:353166-353216	Caco-2	colon:	n/a
17	chr3:238615-238665	SK-N-SH_RA	brain:	n/a
18	chr3:239665-239715	NHBE	bronchial:	n/a
19	chr3:782757-782807	Hepatocyte	liver:	n/a
20	chr3:238161-238211	ECC-1	luminal epithelium:	n/a
21	chr3:577821-577871	AoSMC	blood vessel:	n/a
22	chr3:239207-239257	SAEC	small airway:	n/a
23	chr3:238611-238661	HRE	kidney:	n/a
24	chr3:241182-241232	T-47D	breast:	n/a
25	chr3:241182-241232	NHBE	bronchial:	n/a
26	chr3:447414-447464	SK-N-MC	brain:	n/a
27	chr3:350892-350942	HCM	heart:	n/a
28	chr3:239665-239715	HRCEpiC	kidney:	n/a
29	chr3:240139-240189	AG10803	skin:	n/a
30	chr3:350503-350553	NHBE	bronchial:	n/a
31	chr3:239665-239715	NT2-D1	testis:	n/a
32	chr3:238048-238098	ovcar-3	ovarian:	n/a
33	chr3:577629-577679	HUVEC	blood vessel:	n/a
34	chr3:523012-523062	MCF10A-Er-Src	breast:	n/a
35	chr3:501673-501723	T-47D	breast:	n/a
36	chr3:350602-350652	HCT-116	colon:	n/a
37	chr3:782757-782807	AG09309	skin:	n/a
38	chr3:239207-239257	HEEpiC	esophagus:	n/a
39	chr3:238611-238661	LNCaP	prostate:	n/a
40	chr3:238496-238546	NHBE	bronchial:	n/a
41	chr3:238161-238211	GM12892	blood:	n/a
42	chr3:239229-239279	CMK	blood:	n/a
43	chr3:427558-427608	Caco-2	colon:	n/a
44	chr3:350682-350732	GM12878	blood:	n/a
45	chr3:238392-238442	AoSMC	blood vessel:	n/a
46	chr3:243996-244046	PrEC	prostate:	n/a
47	chr3:350789-350839	HNPCEpiC	eye:	n/a
48	chr3:351003-351053	RPTEC	kidney:	n/a
49	chr3:238611-238661	AG09309	skin:	n/a
50	chr3:501673-501723	HUVEC	blood vessel:	n/a

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:9517250..9519290-chr3:632442..635070,2	MCF-7	breast:
2	chr3:829999..831597-chr3:832456..834541,2	MCF-7	breast:
3	chr3:556350..557928-chr3:558208..559835,2	MCF-7	breast:
4	chr3:395767..396427-chr3:418920..419430,2	MCF-7	breast:
5	chr3:380749..382647-chr3:383286..385545,2	MCF-7	breast:
6	chr3:84540..85233-chr3:395143..396665,5	MCF-7	breast:
7	chr3:395767..396427-chr3:418920..419430,2	MCF-7	breast:
8	chr3:709932..711493-chr3:712317..715172,2	K562	blood:
9	chr21:9537493..9539688-chr3:612236..614804,2	MCF-7	breast:
10	chr3:751166..753010-chr3:765105..767568,2	K562	blood:
11	chr3:950629..951227-chr3:2029405..2030169,2	MCF-7	breast:
12	chr3:333238..334968-chr3:337821..339342,2	MCF-7	breast:
13	chr3:751166..753010-chr3:765105..767568,2	K562	blood:
14	chr3:512741..514299-chr3:528430..530623,2	K562	blood:
15	chr3:762317..764340-chr3:779905..782757,2	K562	blood:
16	chr3:84468..85168-chr3:395782..396503,2	MCF-7	breast:
17	chr3:522873..523625-chr3:674344..674995,2	MCF-7	breast:
18	chr3:379607..381981-chr3:384960..386643,2	K562	blood:
19	chr3:369627..372241-chr3:375088..376630,2	K562	blood:
20	chr3:457571..459756-chr3:462210..465015,2	K562	blood:
21	chr3:571404..573075-chr3:573790..576325,2	MCF-7	breast:
22	chr3:746367..749271-chr3:749542..752426,2	K562	blood:
23	chr3:496434..499262-chr3:500586..502601,2	K562	blood:
24	chr3:554700..557337-chr3:557649..560284,2	K562	blood:
25	chr3:726576..727076-chr3:11025934..11026463,2	MCF-7	breast:
26	chr20:14175439..14177996-chr3:730394..733241,2	MCF-7	breast:
27	chr3:423895..425881-chr3:427804..430449,2	K562	blood:
28	chr3:731301..733205-chr3:733252..736265,3	K562	blood:
29	chr3:333238..334968-chr3:337821..339342,2	MCF-7	breast:
30	chr3:571404..573075-chr3:573790..576325,2	MCF-7	breast:
31	chr3:844122..846364-chr3:847958..849773,2	K562	blood:
32	chr3:188824..190368-chr3:386265..388997,2	MCF-7	breast:
33	chr3:297411..299702-chr3:300779..302869,2	K562	blood:
34	chr3:565796..568589-chr3:571178..572728,2	K562	blood:
35	chr1:229050784..229051693-chr3:758018..758663,2	MCF-7	breast:
36	chr3:369627..372241-chr3:375088..376630,2	K562	blood:
37	chr3:496434..499262-chr3:500586..502601,2	K562	blood:
38	chr3:321596..323780-chr3:337949..340526,2	MCF-7	breast:
39	chr3:522873..523625-chr3:674344..674995,2	MCF-7	breast:
40	chr3:426526..428688-chr3:432686..435480,2	K562	blood:
41	chr3:383287..386050-chr3:389112..391059,2	MCF-7	breast:
42	chr3:703062..705164-chr3:828470..830008,2	K562	blood:
43	chr3:731301..733205-chr3:733252..736265,3	K562	blood:
44	chr3:389768..391549-chr3:394844..396538,2	MCF-7	breast:
45	chr12:101154422..101155178-chr3:753774..754622,2	MCF-7	breast:
46	chr3:455533..456082-chr3:893341..894026,2	MCF-7	breast:
47	chr3:746367..749271-chr3:749542..752426,2	K562	blood:
48	chr3:556350..557928-chr3:558208..559835,2	MCF-7	breast:
49	chr3:674217..674800-chr3:1123463..1123990,2	MCF-7	breast:
50	chr3:321596..323780-chr3:337949..340526,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHL1-6	chr3:859059-862698	ucscGeneNc_uc003boy_1
2	lnc-IL5RA-6	chr3:238139-238191	ENSG00000224318.1
3	lnc-CHL1-6	chr3:608788-608866	ucscGeneNc_uc003boy_1
4	lnc-IL5RA-6	chr3:238290-238542	ENSG00000224318.1
5	lnc-CNTN6-7	chr3:288251-290282	NONHSAT087561
6	lnc-CNTN6-7	chr3:286296-286375	NONHSAT087560
7	lnc-IL5RA-15	chr3:350397-351005	NONHSAT087564
8	lnc-CNTN6-7	chr3:239326-239775	NONHSAT087561
9	lnc-IL5RA-6	chr3:237540-237597	NONHSAT087559
10	lnc-CNTN6-7	chr3:288251-288539	NONHSAT087560
11	lnc-IL5RA-6	chr3:237679-237723	ENSG00000224318.1
12	lnc-CNTN6-7	chr3:286296-286375	NONHSAT087561
13	lnc-CHL1-3	chr3:633788-633866	NR_110118
14	lnc-CHL1-3	chr3:577941-579275	NONHSAT087570
15	lnc-IL5RA-6	chr3:237679-237723	ENSG00000224318.1
16	lnc-CHL1-3	chr3:868690-868816	ENSG00000224957
17	lnc-IL5RA-6	chr3:238139-238386	NONHSAT087559
18	lnc-IL5RA-6	chr3:238650-238882	ENSG00000224318.1
19	lnc-CHL1-6	chr3:552914-553010	ucscGeneNc_uc003boy_1
20	lnc-IL5RA-6	chr3:238139-238191	ENSG00000224318.1
21	lnc-CHL1-3	chr3:633788-633866	ENSG00000224957
22	lnc-IL5RA-6	chr3:237441-237597	ENSG00000224318.1
23	lnc-CHL1-6	chr3:766898-766933	ucscGeneNc_uc003boy_1
24	lnc-CHL1-3	chr3:884059-884327	ENSG00000224957
25	lnc-CNTN6-2	chr3:899428-900630	NONHSAT087575
26	lnc-IL5RA-6	chr3:238139-238191	ENSG00000224318.1
27	lnc-CNTN6-2	chr3:898807-898956	XLOC_002565
28	lnc-IL5RA-6	chr3:237679-237723	NONHSAT087559
29	lnc-IL5RA-6	chr3:237679-237723	ENSG00000224318.1
30	lnc-IL5RA-14	chr3:659472-659997	NONHSAT087571
31	lnc-CHL1-3	chr3:884059-887698	NR_110118
32	lnc-CNTN6-2	chr3:899428-899774	XLOC_002565
33	lnc-CHL1-3	chr3:577936-578010	ENSG00000224957
34	lnc-IL5RA-5	chr3:405053-405706	ENSG00000234661.1
35	lnc-IL5RA-5	chr3:424250-424415	ENSG00000234661.1
36	lnc-CHL1-6	chr3:857398-857493	ucscGeneNc_uc003boy_1
37	lnc-IL5RA-5	chr3:415500-415735	ENSG00000234661.2
38	lnc-CNTN6-7	chr3:254887-255362	NONHSAT087562
39	lnc-CHL1-3	chr3:791898-791933	NR_110118
40	lnc-CHL1-3	chr3:791898-791933	ENSG00000224957
41	lnc-IL5RA-6	chr3:238650-239024	ENSG00000224318.1
42	lnc-IL5RA-6	chr3:237441-237597	ENSG00000224318.1
43	lnc-CHL1-3	chr3:882398-882493	NR_110118
44	lnc-CNTN6-7	chr3:238454-238746	NONHSAT087560
45	lnc-IL5RA-5	chr3:405518-405706	ENSG00000234661.2
46	lnc-CNTN6-7	chr3:239697-239775	NONHSAT087562
47	lnc-IL5RA-6	chr3:238290-238385	ENSG00000224318.1
48	lnc-IL5RA-5	chr3:427386-427478	ENSG00000234661.1
49	lnc-IL5RA-6	chr3:237441-237597	ENSG00000224318.1
50	lnc-CNTN6-2	chr3:898848-898956	NONHSAT087575

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	CHL1	hsa-miR-10a-5p	chr3:450171-450192
2	CHL1	hsa-miR-181a-5p	chr3:448562-448584
3	CHL1	hsa-miR-10a-5p	chr3:450185-450191

Variant related genes	Relation type
RNU6-1194P	TF binding region
RPS8P6	TF binding region
CHL1-AS1	TF binding region
CHL1-AS2	TF binding region
ENSG00000224957	TF binding region
ENSG00000224239	TF binding region
ENSG00000238075	TF binding region
CHL1	TF binding region
RNU6-1194P	CpG island
RPS8P6	CpG island
CHL1-AS1	CpG island
CHL1-AS2	CpG island
ENSG00000224957	CpG island
ENSG00000224239	CpG island
ENSG00000238075	CpG island
CHL1	CpG island
ENSG00000252017	chromatin interactions
ENSG00000234661	chromatin interactions
COPS7A	miRNA target sites
IL10	miRNA target sites
CPEB4	miRNA target sites
HIF1A	miRNA target sites
DCBLD2	miRNA target sites

Extended variants
information (count: 20071 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:20071 , 50 per page) page: 1 2 3 4 5 6 7 ... 402

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113082085	chr3:236679-236680	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs192837699	chr3:236709-236710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs1516338	chr3:236759-236760	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566220812	chr3:236764-236765	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184721917	chr3:236780-236781	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1516339	chr3:236799-236800	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566887984	chr3:236803-236804	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537282594	chr3:236814-236815	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs370966300	chr3:236818-236819	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556160135	chr3:236824-236825	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs58886244	chr3:236827-236828	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190041520	chr3:236841-236842	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543618041	chr3:236864-236865	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs141157350	chr3:236879-236880	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs540097024	chr3:236885-236886	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs386657250	chr3:236888-236889	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs58166467	chr3:236889-236890	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs397707393	chr3:236890-236891	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573380710	chr3:236893-236894	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs57933859	chr3:236894-236895	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79515623	chr3:236903-236904	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs574057047	chr3:236919-236920	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs5845950	chr3:236923-236924	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76161688	chr3:236940-236941	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140535570	chr3:236977-236978	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150459904	chr3:236996-236997	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs59201974	chr3:237004-237005	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs397962716	chr3:237007-237008	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs545270143	chr3:237013-237014	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560272451	chr3:237023-237024	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs1516340	chr3:237075-237076	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs142881085	chr3:237076-237077	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs73088627	chr3:237120-237121	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531188749	chr3:237121-237122	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550088656	chr3:237123-237124	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs144977656	chr3:237137-237138	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs151079321	chr3:237159-237160	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs75583205	chr3:237164-237165	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs116445496	chr3:237196-237197	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs532316787	chr3:237207-237208	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111552257	chr3:237209-237210	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534312759	chr3:237227-237228	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181521841	chr3:237258-237259	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142069763	chr3:237277-237278	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs574117537	chr3:237323-237324	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs371386891	chr3:237328-237329	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537842948	chr3:237384-237385	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs556864524	chr3:237396-237397	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs578193962	chr3:237424-237425	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545647001	chr3:237433-237434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
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
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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Hodgkin''s lymphoma	17606441	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:1640 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:235800-237000	Enhancers	Ovary	ovary
2	chr3:236000-236800	Enhancers	Fetal Brain Female	brain
3	chr3:236200-237800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:236400-237000	Enhancers	Brain Germinal Matrix	brain
5	chr3:236400-237400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:236400-238200	Weak transcription	Spleen	Spleen
7	chr3:236600-237200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:236600-237200	Flanking Active TSS	Fetal Brain Male	brain
9	chr3:236800-238000	Active TSS	Fetal Brain Female	brain
10	chr3:237000-237200	Active TSS	Brain Germinal Matrix	brain
11	chr3:237000-237800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:237000-237800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:237000-240400	Active TSS	Ovary	ovary
14	chr3:237200-237400	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr3:237200-237600	Active TSS	Brain Cingulate Gyrus	brain
16	chr3:237200-237800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:237200-240000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:237200-240200	Active TSS	Brain Anterior Caudate	brain
19	chr3:237200-241000	Active TSS	Brain Angular Gyrus	brain
20	chr3:237200-241000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:237200-241000	Active TSS	Fetal Brain Male	brain
22	chr3:237400-237600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr3:237400-241200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr3:237600-237800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr3:237600-237800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr3:237600-240000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr3:237600-240200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr3:237600-241200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr3:237800-238000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr3:237800-238000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:237800-238000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr3:237800-238000	Active TSS	Brain Substantia Nigra	brain
33	chr3:237800-238200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr3:237800-238200	Bivalent Enhancer	Primary B cells from cord blood	blood
35	chr3:237800-238200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr3:237800-238200	Bivalent Enhancer	NHEK	skin
37	chr3:237800-238400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr3:237800-238600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:237800-238600	Bivalent/Poised TSS	Fetal Kidney	kidney
40	chr3:237800-240200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:237800-240200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr3:237800-240400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr3:237800-240400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr3:237800-240400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr3:237800-240400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:237800-240400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr3:237800-240400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr3:237800-240400	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr3:237800-240400	Active TSS	Right Atrium	heart
50	chr3:237800-240600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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