Variant report

Variant	nsv460834
Chromosome Location	chr3:119384163-119458851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1445)
CpG islands
(count:1526)
Chromatin interactive
region (count:55)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1445 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:119435954-119436321	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:119396340-119396590	HepG2	liver:	n/a	n/a
3	ATF1	chr3:119383818-119384285	K562	blood:	n/a	n/a
4	ATF2	chr3:119395877-119396708	GM12878	blood:	n/a	n/a
5	ATF2	chr3:119396199-119396619	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr3:119416135-119416799	GM12878	blood:	n/a	n/a
7	ATF2	chr3:119419260-119419790	GM12878	blood:	n/a	n/a
8	ATF2	chr3:119415949-119416762	GM12878	blood:	n/a	n/a
9	ATF2	chr3:119396010-119396847	GM12878	blood:	n/a	n/a
10	ATF2	chr3:119419112-119419861	GM12878	blood:	n/a	n/a
11	BACH1	chr3:119421256-119421985	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr3:119419396-119419828	GM12878	blood:	n/a	chr3:119419597-119419608
13	BATF	chr3:119416187-119416633	GM12878	blood:	n/a	n/a
14	BATF	chr3:119396345-119396712	GM12878	blood:	n/a	n/a
15	BATF	chr3:119416221-119416736	GM12878	blood:	n/a	n/a
16	BATF	chr3:119419338-119419885	GM12878	blood:	n/a	chr3:119419597-119419608
17	BATF	chr3:119395983-119396296	GM12878	blood:	n/a	chr3:119396132-119396143
18	BCL11A	chr3:119416224-119416686	GM12878	blood:	n/a	n/a
19	BCL11A	chr3:119419397-119419785	GM12878	blood:	n/a	n/a
20	BCL11A	chr3:119416282-119416662	GM12878	blood:	n/a	n/a
21	BCL11A	chr3:119419296-119419881	GM12878	blood:	n/a	n/a
22	BCL3	chr3:119396033-119396688	A549	lung:	n/a	chr3:119396235-119396244
23	BCL3	chr3:119419304-119419795	GM12878	blood:	n/a	n/a
24	BCL3	chr3:119396088-119396722	A549	lung:	n/a	chr3:119396235-119396244
25	BCL3	chr3:119416216-119416654	GM12878	blood:	n/a	n/a
26	BCLAF1	chr3:119395929-119396740	GM12878	blood:	n/a	chr3:119396235-119396244
27	BCLAF1	chr3:119416117-119416732	GM12878	blood:	n/a	chr3:119416198-119416207
28	BCLAF1	chr3:119396285-119396736	GM12878	blood:	n/a	n/a
29	BCLAF1	chr3:119419226-119419743	GM12878	blood:	n/a	n/a
30	BCLAF1	chr3:119416131-119416727	GM12878	blood:	n/a	chr3:119416198-119416207
31	BHLHE40	chr3:119396120-119396932	GM12878	blood:	n/a	n/a
32	BHLHE40	chr3:119386084-119386321	GM12878	blood:	n/a	n/a
33	BHLHE40	chr3:119416183-119416597	GM12878	blood:	n/a	n/a
34	BHLHE40	chr3:119395933-119396517	K562	blood:	n/a	n/a
35	BHLHE40	chr3:119421891-119421929	GM12878	blood:	n/a	n/a
36	BRCA1	chr3:119421750-119421757	GM12878	blood:	n/a	n/a
37	BRCA1	chr3:119421512-119422038	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr3:119395772-119396625	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr3:119393784-119393787	Hela-S3	cervix:	n/a	n/a
40	CBX3	chr3:119396090-119396510	K562	blood:	n/a	n/a
41	CBX3	chr3:119414383-119414656	K562	blood:	n/a	n/a
42	CBX3	chr3:119383903-119384211	K562	blood:	n/a	n/a
43	CBX3	chr3:119395842-119396684	K562	blood:	n/a	n/a
44	CBX3	chr3:119414331-119414620	K562	blood:	n/a	n/a
45	CCNT2	chr3:119395892-119396167	K562	blood:	n/a	n/a
46	CEBPB	chr3:119414351-119414804	A549	lung:	n/a	n/a
47	CEBPB	chr3:119396168-119396772	GM12878	blood:	n/a	n/a
48	CEBPB	chr3:119419950-119420073	K562	blood:	n/a	n/a
49	CEBPB	chr3:119455476-119455676	IMR90	lung:	n/a	n/a
50	CEBPB	chr3:119395973-119396124	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1526 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:119396868-119396918	HCF	heart:	n/a
2	chr3:119396868-119396918	HCF	heart:	n/a
3	chr3:119399324-119399374	Jurkat	blood:	n/a
4	chr3:119421868-119421918	HEEpiC	esophagus:	n/a
5	chr3:119425176-119425226	HIPEpiC	eye:	n/a
6	chr3:119396640-119396690	HCPEpiC	choroid plexus:	n/a
7	chr3:119422283-119422333	AoSMC	blood vessel:	n/a
8	chr3:119421614-119421664	HRCEpiC	kidney:	n/a
9	chr3:119396465-119396515	HEK293	kidney:	embryo
10	chr3:119421667-119421717	Hela-S3	cervix:	n/a
11	chr3:119396868-119396918	HNPCEpiC	eye:	n/a
12	chr3:119425176-119425226	Caco-2	colon:	n/a
13	chr3:119425176-119425226	NHDF-neo	bronchial:	n/a
14	chr3:119396361-119396411	HRPEpiC	eye:	n/a
15	chr3:119395580-119395630	Caco-2	colon:	n/a
16	chr3:119421614-119421664	MCF-7	breast:	n/a
17	chr3:119393058-119393108	AG09309	skin:	n/a
18	chr3:119396361-119396411	NB4	blood:	n/a
19	chr3:119393058-119393108	IMR90	lung:	fetal
20	chr3:119396640-119396690	HCF	heart:	n/a
21	chr3:119421939-119421989	HRE	kidney:	n/a
22	chr3:119421939-119421989	PFSK-1	brain:	n/a
23	chr3:119421939-119421989	NHDF-neo	bronchial:	n/a
24	chr3:119396640-119396690	HL-60	blood:	n/a
25	chr3:119396313-119396363	AG04450	lung:	fetal
26	chr3:119419493-119419543	U87	brain:	n/a
27	chr3:119396361-119396411	ovcar-3	ovarian:	n/a
28	chr3:119395580-119395630	SK-N-SH_RA	brain:	n/a
29	chr3:119395842-119395892	GM06990	blood:	n/a
30	chr3:119396309-119396359	MCF10A-Er-Src	breast:	n/a
31	chr3:119396465-119396515	A549	lung:	n/a
32	chr3:119422359-119422409	SK-N-MC	brain:	n/a
33	chr3:119420208-119420258	AG04449	skin:	fetal
34	chr3:119396309-119396359	NB4	blood:	n/a
35	chr3:119421553-119421603	AG10803	skin:	n/a
36	chr3:119399324-119399374	GM12878	blood:	n/a
37	chr3:119422161-119422211	HCM	heart:	n/a
38	chr3:119421939-119421989	IMR90	lung:	fetal
39	chr3:119395842-119395892	A549	lung:	n/a
40	chr3:119393058-119393108	Caco-2	colon:	n/a
41	chr3:119396386-119396436	T-47D	breast:	n/a
42	chr3:119421553-119421603	HepG2	liver:	n/a
43	chr3:119422359-119422409	Hepatocyte	liver:	n/a
44	chr3:119422161-119422211	SAEC	small airway:	n/a
45	chr3:119396361-119396411	NT2-D1	testis:	n/a
46	chr3:119421868-119421918	ProgFib	skin:	n/a
47	chr3:119419493-119419543	HCF	heart:	n/a
48	chr3:119399324-119399374	HRPEpiC	eye:	n/a
49	chr3:119395580-119395630	T-47D	breast:	n/a
50	chr3:119421868-119421918	NHBE	bronchial:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:119391312..119393236-chr3:119393602..119396027,2	K562	blood:
2	chr3:119383346..119386464-chr3:119395342..119399056,3	K562	blood:
3	chr3:119215976..119218932-chr3:119393949..119396539,3	K562	blood:
4	chr3:119383319..119384856-chr3:119387419..119389947,2	K562	blood:
5	chr3:119297190..119298785-chr3:119385064..119387274,2	MCF-7	breast:
6	chr3:119397978..119400630-chr3:119401218..119403216,2	MCF-7	breast:
7	chr3:119422857..119424567-chr7:75925278..75927867,2	MCF-7	breast:
8	chr3:119276867..119278435-chr3:119399645..119402371,2	MCF-7	breast:
9	chr3:119388646..119390230-chr3:119392331..119393863,2	K562	blood:
10	chr20:54777268..54777982-chr3:119400268..119400814,2	MCF-7	breast:
11	chr3:119371437..119373754-chr3:119392688..119396112,3	K562	blood:
12	chr3:119383346..119386464-chr3:119395342..119399056,3	K562	blood:
13	chr3:119394727..119396286-chr3:119814089..119815777,2	K562	blood:
14	chr3:119393569..119396281-chr3:119421855..119424087,2	MCF-7	breast:
15	chr3:118876250..118878600-chr3:119400821..119403241,2	MCF-7	breast:
16	chr3:119380893..119382995-chr3:119385609..119387430,2	MCF-7	breast:
17	chr3:119297880..119300098-chr3:119394986..119397161,3	MCF-7	breast:
18	chr3:119387339..119389333-chr3:119392737..119395674,3	K562	blood:
19	chr3:119389471..119391263-chr3:119394151..119396440,3	K562	blood:
20	chr3:119384798..119386464-chr3:119395493..119397743,2	K562	blood:
21	chr3:119388646..119390230-chr3:119392331..119393863,2	K562	blood:
22	chr3:119382052..119384819-chr3:119387419..119389641,2	K562	blood:
23	chr3:119328437..119330333-chr3:119390205..119392685,2	K562	blood:
24	chr3:119383202..119386543-chr3:119393770..119396267,3	MCF-7	breast:
25	chr3:119040381..119043387-chr3:119393976..119396207,3	K562	blood:
26	chr3:119421793..119424164-chr3:119448930..119450686,2	MCF-7	breast:
27	chr3:119389108..119393521-chr3:119393632..119397776,6	MCF-7	breast:
28	chr3:119396379..119398214-chr3:119398308..119400262,2	MCF-7	breast:
29	chr3:119377372..119379623-chr3:119387851..119390487,2	K562	blood:
30	chr3:119413495..119415805-chr3:119419920..119422060,2	MCF-7	breast:
31	chr3:119384220..119388638-chr3:119390311..119393902,4	K562	blood:
32	chr3:119396379..119398214-chr3:119398308..119400262,2	MCF-7	breast:
33	chr3:119366599..119368508-chr3:119385647..119388287,2	MCF-7	breast:
34	chr3:119380060..119382164-chr3:119384940..119387375,2	K562	blood:
35	chr3:119181523..119183291-chr3:119394912..119396579,2	MCF-7	breast:
36	chr3:119384220..119388638-chr3:119390311..119393902,4	K562	blood:
37	chr3:119393569..119396281-chr3:119421855..119424087,2	MCF-7	breast:
38	chr3:119387433..119389444-chr3:119393932..119397317,5	K562	blood:
39	chr3:119181316..119183992-chr3:119395288..119397711,2	MCF-7	breast:
40	chr3:119215767..119217677-chr3:119394561..119396315,2	MCF-7	breast:
41	chr3:119384409..119387165-chr3:119391759..119393266,2	K562	blood:
42	chr3:119440802..119443470-chr3:119448061..119449825,2	K562	blood:
43	chr3:119408612..119410162-chr3:119814493..119816849,2	K562	blood:
44	chr3:119217361..119219124-chr3:119394788..119396855,3	MCF-7	breast:
45	chr3:119243377..119244472-chr3:119399849..119400744,3	MCF-7	breast:
46	chr3:119388635..119391771-chr3:119394131..119397043,3	MCF-7	breast:
47	chr3:119383387..119384969-chr3:119391616..119393313,2	MCF-7	breast:
48	chr3:119384409..119387165-chr3:119391759..119393266,2	K562	blood:
49	chr3:119397978..119400630-chr3:119401218..119403216,2	MCF-7	breast:
50	chr3:119440802..119443470-chr3:119448061..119449825,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POPDC2-1	chr3:119384098-119384323	NONHSAT091398
2	lnc-POPDC2-4	chr3:119393992-119394424	NONHSAT091401
3	lnc-POPDC2-1	chr3:119384336-119384615	NONHSAT091398
4	lnc-POPDC2-4	chr3:119388381-119388512	NONHSAT091401
5	lnc-C3orf15-1	chr3:119384932-119385285	NONHSAT091400
6	lnc-POPDC2-3	chr3:119389611-119390692	NONHSAT091402
7	lnc-POPDC2-1	chr3:119385766-119386938	NONHSAT091399
8	lnc-POPDC2-3	chr3:119390786-119391185	NONHSAT091402
9	lnc-C3orf15-1	chr3:119387108-119387283	NONHSAT091400
10	lnc-POPDC2-1	chr3:119384098-119384170	NONHSAT091399

No data

Variant related genes	Relation type
COX17	TF binding region
POPDC2	TF binding region
MAATS1	TF binding region
COX17	CpG island
POPDC2	CpG island
MAATS1	CpG island
ENSG00000241155	chromatin interactions
ENSG00000183833	chromatin interactions
ENSG00000121577	chromatin interactions
ENSG00000121578	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000138495	chromatin interactions
ENSG00000121594	chromatin interactions
ENSG00000272967	chromatin interactions
ENSG00000272662	chromatin interactions
ENSG00000176142	chromatin interactions
ENSG00000144843	chromatin interactions
ENSG00000113845	chromatin interactions

Extended variants
information (count: 2795 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2795 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1720143	chr3:119384163-119384164	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546956645	chr3:119384216-119384217	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs571563166	chr3:119384268-119384269	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs143740064	chr3:119384279-119384280	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs569939665	chr3:119384293-119384294	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs550756050	chr3:119384314-119384315	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs568951778	chr3:119384324-119384325	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535940413	chr3:119384327-119384328	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs114539595	chr3:119384348-119384349	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs147229931	chr3:119384491-119384492	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs55999412	chr3:119384525-119384526	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs538560769	chr3:119384534-119384535	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs184879270	chr3:119384537-119384538	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs35390506	chr3:119384597-119384598	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs553251956	chr3:119384603-119384604	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs572142335	chr3:119384725-119384726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561276714	chr3:119384767-119384768	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs140610768	chr3:119384808-119384809	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34534947	chr3:119384843-119384844	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs5852217	chr3:119384975-119384976	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs397739417	chr3:119384978-119384979	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs201970666	chr3:119384979-119384980	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs144443548	chr3:119384985-119384986	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs575771491	chr3:119384993-119384994	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs542787878	chr3:119385018-119385019	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs79460467	chr3:119385063-119385064	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs528523770	chr3:119385074-119385075	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs373459596	chr3:119385091-119385092	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs540587053	chr3:119385139-119385140	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs16830291	chr3:119385140-119385141	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs74536482	chr3:119385167-119385168	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs188470164	chr3:119385200-119385201	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs568989050	chr3:119385289-119385290	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs529885626	chr3:119385293-119385294	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs180715200	chr3:119385297-119385298	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs566512783	chr3:119385312-119385313	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs78260436	chr3:119385316-119385317	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs112391206	chr3:119385334-119385335	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs186615897	chr3:119385338-119385339	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs538974433	chr3:119385373-119385374	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs374128174	chr3:119385403-119385404	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs557617511	chr3:119385426-119385427	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs575788235	chr3:119385461-119385462	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs76419630	chr3:119385465-119385466	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs566117981	chr3:119385517-119385518	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs554769582	chr3:119385540-119385541	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs111464380	chr3:119385575-119385576	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs376169363	chr3:119385599-119385600	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs189457181	chr3:119385657-119385658	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs540647292	chr3:119385702-119385703	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1581 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:119356200-119389000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:119356800-119390000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:119356800-119391800	Weak transcription	Brain Substantia Nigra	brain
5	chr3:119356800-119391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:119357800-119386400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:119358000-119390600	Weak transcription	Brain Anterior Caudate	brain
8	chr3:119358000-119391800	Weak transcription	Colonic Mucosa	Colon
9	chr3:119361200-119394400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:119362400-119387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:119363200-119389400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:119363200-119389800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:119365200-119387400	Weak transcription	Liver	Liver
14	chr3:119367600-119389200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:119367600-119391200	Weak transcription	Fetal Brain Female	brain
16	chr3:119367800-119385400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:119367800-119386600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:119367800-119388800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:119368000-119386000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:119368200-119388200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr3:119373400-119388800	Weak transcription	Aorta	Aorta
22	chr3:119374800-119389000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:119377400-119387200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:119377400-119387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:119378800-119385600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:119379000-119384600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:119379000-119385600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:119379000-119387400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr3:119379200-119384200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:119379200-119384400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:119379200-119391800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:119379200-119392400	Weak transcription	Esophagus	oesophagus
33	chr3:119379200-119392400	Weak transcription	Gastric	stomach
34	chr3:119379400-119385400	Weak transcription	Primary T cells from cord blood	blood
35	chr3:119379400-119385800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr3:119379400-119386000	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:119379400-119388600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:119379600-119387400	Weak transcription	Fetal Intestine Large	intestine
39	chr3:119379800-119384600	Enhancers	Fetal Muscle Leg	muscle
40	chr3:119379800-119391800	Weak transcription	Thymus	Thymus
41	chr3:119380000-119384400	Enhancers	Rectal Smooth Muscle	rectum
42	chr3:119380000-119385600	Weak transcription	Fetal Thymus	thymus
43	chr3:119380000-119386000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr3:119380000-119391800	Weak transcription	Lung	lung
45	chr3:119380000-119391800	Weak transcription	Ovary	ovary
46	chr3:119380000-119391800	Weak transcription	Pancreas	Pancrea
47	chr3:119380000-119391800	Weak transcription	Spleen	Spleen
48	chr3:119380000-119392000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:119380200-119385800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:119380400-119391000	Weak transcription	Placenta Amnion	Placenta Amnion

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