Variant report

Variant	esv17637
Chromosome Location	chr19:41770228-41815282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2445)
CpG islands
(count:1283)
Chromatin interactive
region (count:99)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:41769414-41770656	HepG2	liver:	n/a	chr19:41770066-41770074
2	ARID3A	chr19:41814405-41814774	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:41769513-41770396	K562	blood:	n/a	chr19:41770066-41770074
4	ATF1	chr19:41768951-41770344	K562	blood:	n/a	n/a
5	ATF1	chr19:41814436-41814780	K562	blood:	n/a	n/a
6	ATF2	chr19:41808396-41809271	GM12878	blood:	n/a	n/a
7	ATF2	chr19:41803454-41803901	GM12878	blood:	n/a	chr19:41803664-41803675
8	ATF2	chr19:41803323-41804097	GM12878	blood:	n/a	chr19:41803664-41803675
9	ATF2	chr19:41814277-41814866	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr19:41768854-41770487	GM12878	blood:	n/a	n/a
11	ATF2	chr19:41804187-41804696	GM12878	blood:	n/a	n/a
12	ATF2	chr19:41814095-41814929	GM12878	blood:	n/a	n/a
13	ATF2	chr19:41770734-41771164	GM12878	blood:	n/a	n/a
14	ATF2	chr19:41769469-41770361	GM12878	blood:	n/a	n/a
15	ATF2	chr19:41814382-41814842	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr19:41768773-41770634	A549	lung:	n/a	chr19:41770187-41770196
17	ATF3	chr19:41814141-41817077	A549	lung:	n/a	n/a
18	ATF3	chr19:41769137-41770631	A549	lung:	n/a	chr19:41770187-41770196
19	BATF	chr19:41808699-41809107	GM12878	blood:	n/a	n/a
20	BCL3	chr19:41813653-41817132	A549	lung:	n/a	chr19:41815872-41815881 chr19:41814588-41814596
21	BCL3	chr19:41782034-41782665	A549	lung:	n/a	n/a
22	BCL3	chr19:41767315-41771247	A549	lung:	n/a	chr19:41770820-41770833 chr19:41769404-41769417 chr19:41770075-41770084 chr19:41768447-41768460 chr19:41770716-41770725
23	BCL3	chr19:41815100-41816882	K562	blood:	n/a	chr19:41815872-41815881
24	BCL3	chr19:41814431-41815034	GM12878	blood:	n/a	chr19:41814588-41814596
25	BCL3	chr19:41813745-41817131	A549	lung:	n/a	chr19:41815872-41815881 chr19:41814588-41814596
26	BCL3	chr19:41771252-41772166	A549	lung:	n/a	chr19:41771949-41771957
27	BCL3	chr19:41813942-41815083	K562	blood:	n/a	chr19:41814588-41814596
28	BCL3	chr19:41815212-41815772	GM12878	blood:	n/a	n/a
29	BCL3	chr19:41767350-41772062	A549	lung:	n/a	chr19:41770820-41770833 chr19:41769404-41769417 chr19:41770075-41770084 chr19:41768447-41768460 chr19:41770716-41770725 chr19:41771949-41771957
30	BCL3	chr19:41815123-41815670	GM12878	blood:	n/a	n/a
31	BCLAF1	chr19:41768782-41770668	GM12878	blood:	n/a	chr19:41769404-41769417 chr19:41770075-41770084
32	BCLAF1	chr19:41808387-41808998	GM12878	blood:	n/a	n/a
33	BCLAF1	chr19:41813807-41814964	GM12878	blood:	n/a	chr19:41814588-41814596
34	BCLAF1	chr19:41813919-41815012	GM12878	blood:	n/a	chr19:41814588-41814596
35	BHLHE40	chr19:41768890-41770683	GM12878	blood:	n/a	n/a
36	BHLHE40	chr19:41808514-41809106	GM12878	blood:	n/a	n/a
37	BHLHE40	chr19:41814448-41814777	K562	blood:	n/a	n/a
38	BHLHE40	chr19:41768896-41770419	K562	blood:	n/a	n/a
39	BHLHE40	chr19:41814287-41814819	GM12878	blood:	n/a	n/a
40	BHLHE40	chr19:41769203-41770872	HepG2	liver:	n/a	n/a
41	BHLHE40	chr19:41803526-41804523	GM12878	blood:	n/a	n/a
42	BHLHE40	chr19:41770104-41770440	A549	lung:	n/a	n/a
43	BHLHE40	chr19:41770862-41770949	K562	blood:	n/a	n/a
44	BRCA1	chr19:41769018-41770321	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr19:41800546-41800651	HepG2	liver:	n/a	n/a
46	BRCA1	chr19:41814377-41814733	GM12878	blood:	n/a	n/a
47	BRCA1	chr19:41769403-41770383	HepG2	liver:	n/a	n/a
48	BRCA1	chr19:41769347-41770283	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr19:41769011-41770373	GM12878	blood:	n/a	n/a
50	BRCA1	chr19:41770960-41771007	HepG2	liver:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41770635-41770685	ovcar-3	ovarian:	n/a
2	chr19:41782099-41782149	SK-N-SH_RA	brain:	n/a
3	chr19:41770635-41770685	ovcar-3	ovarian:	n/a
4	chr19:41782099-41782149	SK-N-SH_RA	brain:	n/a
5	chr19:41787138-41787188	RPTEC	kidney:	n/a
6	chr19:41798334-41798384	HUVEC	blood vessel:	n/a
7	chr19:41770827-41770877	AoSMC	blood vessel:	n/a
8	chr19:41782099-41782149	HCT-116	colon:	n/a
9	chr19:41771095-41771145	HCM	heart:	n/a
10	chr19:41773743-41773793	T-47D	breast:	n/a
11	chr19:41771873-41771923	CMK	blood:	n/a
12	chr19:41771771-41771821	HL-60	blood:	n/a
13	chr19:41771095-41771145	NT2-D1	testis:	n/a
14	chr19:41812492-41812542	HMEC	breast:	n/a
15	chr19:41770983-41771033	Hela-S3	cervix:	n/a
16	chr19:41787138-41787188	HCT-116	colon:	n/a
17	chr19:41771873-41771923	HCF	heart:	n/a
18	chr19:41771095-41771145	MCF10A-Er-Src	breast:	n/a
19	chr19:41770827-41770877	SKMC	muscle:	n/a
20	chr19:41771771-41771821	HCF	heart:	n/a
21	chr19:41798386-41798436	GM12891	blood:	n/a
22	chr19:41770635-41770685	Hela-S3	cervix:	n/a
23	chr19:41771771-41771821	HRPEpiC	eye:	n/a
24	chr19:41771095-41771145	HRE	kidney:	n/a
25	chr19:41782099-41782149	SKMC	muscle:	n/a
26	chr19:41770983-41771033	AG04449	skin:	fetal
27	chr19:41773743-41773793	NH-A	brain:	n/a
28	chr19:41782183-41782233	A549	lung:	n/a
29	chr19:41771771-41771821	BE2_C	brain:	n/a
30	chr19:41798372-41798422	GM12892	blood:	n/a
31	chr19:41805850-41805900	MCF-7	breast:	n/a
32	chr19:41771771-41771821	ProgFib	skin:	n/a
33	chr19:41771873-41771923	K562	blood:	n/a
34	chr19:41782099-41782149	PANC-1	pancreas:	n/a
35	chr19:41798299-41798349	SK-N-MC	brain:	n/a
36	chr19:41770983-41771033	PANC-1	pancreas:	n/a
37	chr19:41814839-41814889	AoSMC	blood vessel:	n/a
38	chr19:41798299-41798349	HIPEpiC	eye:	n/a
39	chr19:41805850-41805900	HRPEpiC	eye:	n/a
40	chr19:41798334-41798384	H1-hESC	embryonic stem cell:	embryo
41	chr19:41798334-41798384	ovcar-3	ovarian:	n/a
42	chr19:41782099-41782149	GM12878	blood:	n/a
43	chr19:41782099-41782149	NT2-D1	testis:	n/a
44	chr19:41771873-41771923	HEEpiC	esophagus:	n/a
45	chr19:41782183-41782233	RPTEC	kidney:	n/a
46	chr19:41782099-41782149	HEK293	kidney:	embryo
47	chr19:41771095-41771145	HNPCEpiC	eye:	n/a
48	chr19:41771095-41771145	HPAEpiC	pulmonary alveolar:	n/a
49	chr19:41770827-41770877	A549	lung:	n/a
50	chr19:41798334-41798384	BE2_C	brain:	n/a

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:41768451..41772660-chr19:41814640..41817683,6	MCF-7	breast:
2	chr19:41793681..41795423-chr19:41801288..41805184,3	K562	blood:
3	chr19:41768301..41771316-chr19:41793539..41795568,3	MCF-7	breast:
4	chr19:41813131..41816938-chr19:41856231..41860417,4	MCF-7	breast:
5	chr19:41814082..41814803-chr19:41860791..41861367,2	K562	blood:
6	chr19:41219692..41221966-chr19:41769353..41771568,2	MCF-7	breast:
7	chr19:41767589..41772847-chr19:41812402..41817981,15	MCF-7	breast:
8	chr19:41711943..41714623-chr19:41813301..41815470,3	MCF-7	breast:
9	chr19:41771717..41773477-chr19:41798656..41800886,2	K562	blood:
10	chr19:41766877..41771286-chr19:41856641..41860631,6	K562	blood:
11	chr19:41785314..41788023-chr19:41802689..41804321,2	K562	blood:
12	chr19:41766963..41771332-chr19:41813075..41817628,7	K562	blood:
13	chr19:41787414..41790293-chr19:41793518..41796261,2	K562	blood:
14	chr19:41785314..41788023-chr19:41802689..41804321,2	K562	blood:
15	chr14:96968705..96969471-chr19:41770213..41770930,2	Hela-S3	cervix:
16	chr19:41801720..41806546-chr19:41809215..41814185,5	MCF-7	breast:
17	chr19:41802145..41804069-chr19:41804193..41807243,3	K562	blood:
18	chr19:41814514..41817967-chr19:41856512..41859507,4	MCF-7	breast:
19	chr19:41768451..41772660-chr19:41814640..41817683,6	MCF-7	breast:
20	chr19:41795110..41797516-chr19:41801008..41803885,2	MCF-7	breast:
21	chr19:41766963..41771332-chr19:41813075..41817628,7	K562	blood:
22	chr19:41814451..41817514-chr19:41857748..41860161,3	K562	blood:
23	chr19:41766631..41773289-chr19:41812153..41817614,9	K562	blood:
24	chr19:41779651..41782365-chr19:41799041..41800680,2	K562	blood:
25	chr11:85955487..85956419-chr19:41770952..41771539,2	Hela-S3	cervix:
26	chr19:41769370..41772548-chr19:41786594..41789173,3	MCF-7	breast:
27	chr19:41766631..41773289-chr19:41812153..41817614,9	K562	blood:
28	chr19:41795075..41798601-chr19:41814323..41817151,3	K562	blood:
29	chr19:41766833..41768515-chr19:41805930..41807470,2	MCF-7	breast:
30	chr19:41767589..41772847-chr19:41812402..41817981,15	MCF-7	breast:
31	chr19:41769462..41771518-chr9:139890234..139892822,2	MCF-7	breast:
32	chr19:41784315..41787405-chr19:41788682..41792518,3	MCF-7	breast:
33	chr19:41770026..41770935-chr2:223725702..223726222,2	Hela-S3	cervix:
34	chr19:41792573..41797879-chr19:41799335..41804103,7	K562	blood:
35	chr19:41779186..41782056-chr19:41798248..41800913,4	K562	blood:
36	chr19:41723294..41725372-chr19:41769177..41770875,2	MCF-7	breast:
37	chr19:41798401..41800764-chr19:41800892..41803412,2	K562	blood:
38	chr19:41798401..41800764-chr19:41800892..41803412,2	K562	blood:
39	chr19:41709903..41710828-chr19:41814558..41815062,3	K562	blood:
40	chr19:41799355..41806261-chr19:41812914..41817863,9	MCF-7	breast:
41	chr19:41773179..41775714-chr19:41780883..41782386,2	MCF-7	breast:
42	chr19:41783745..41786202-chr19:41801580..41803977,3	MCF-7	breast:
43	chr19:41775827..41777491-chr19:41793083..41796048,2	K562	blood:
44	chr19:41776314..41777954-chr19:41800489..41802858,2	K562	blood:
45	chr19:41769259..41771968-chr19:41801788..41803622,2	K562	blood:
46	chr19:41804854..41807401-chr19:41811549..41813471,2	K562	blood:
47	chr19:41791431..41793558-chr19:41801375..41804255,2	MCF-7	breast:
48	chr19:41814729..41817632-chr19:41858391..41861046,3	K562	blood:
49	chr19:41726065..41727668-chr19:41770273..41771927,2	K562	blood:
50	chr19:41787499..41789158-chr19:41792911..41794874,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC97-1	chr19:41807441-41807551	NONHSAT066439
2	lnc-CCDC97-1	chr19:41804395-41804814	NONHSAT066439
3	lnc-TGFB1-2	chr19:41792320-41792599	NONHSAT066438

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HNRNPUL1	hsa-miR-130b-3p	chr19:41813478-41813501
2	HNRNPUL1	hsa-let-7f-5p	chr19:41813783-41813802
3	HNRNPUL1	hsa-let-7a-5p	chr19:41813783-41813802
4	HNRNPUL1	hsa-let-7e-5p	chr19:41813781-41813802
5	HNRNPUL1	hsa-miR-34a-5p	chr19:41813366-41813387
6	HNRNPUL1	hsa-let-7b-5p	chr19:41813782-41813802

Variant related genes	Relation type
CCDC97	TF binding region
RN7SL34P	TF binding region
HNRNPUL1	TF binding region
CCDC97	CpG island
RN7SL34P	CpG island
HNRNPUL1	CpG island
ENSG00000167601	chromatin interactions
ENSG00000123983	chromatin interactions
ENSG00000090060	chromatin interactions
ENSG00000142039	chromatin interactions
ENSG00000269858	chromatin interactions
ENSG00000167600	chromatin interactions
ENSG00000255730	chromatin interactions
ENSG00000142046	chromatin interactions
ENSG00000239868	chromatin interactions
ENSG00000123810	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000268797	chromatin interactions
ENSG00000123815	chromatin interactions
ENSG00000074266	chromatin interactions
ENSG00000105323	chromatin interactions
ENSG00000105329	chromatin interactions

Extended variants
information (count: 1755 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1755 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12975585	chr19:41770231-41770232	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564256767	chr19:41770240-41770241	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs145153548	chr19:41770263-41770264	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs572584477	chr19:41770264-41770265	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs541263464	chr19:41770274-41770275	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs559490446	chr19:41770280-41770281	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs146656347	chr19:41770290-41770291	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs368460593	chr19:41770315-41770316	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs200257089	chr19:41770360-41770361	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs548431563	chr19:41770368-41770369	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs55820664	chr19:41770371-41770372	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs563816385	chr19:41770417-41770418	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs11556497	chr19:41770421-41770422	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs369468843	chr19:41770466-41770467	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs552267140	chr19:41770477-41770478	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs1056852	chr19:41770487-41770488	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs373007462	chr19:41770543-41770544	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs201686804	chr19:41770568-41770569	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs200709260	chr19:41770598-41770599	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs535084657	chr19:41770662-41770663	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs17849624	chr19:41770679-41770680	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546840033	chr19:41770709-41770710	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs4384695	chr19:41770799-41770800	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs568214825	chr19:41770835-41770836	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs535759270	chr19:41770880-41770881	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs12983339	chr19:41770890-41770891	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370517663	chr19:41770894-41770895	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs575450094	chr19:41770896-41770897	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs77302589	chr19:41770974-41770975	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs538397696	chr19:41771019-41771020	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs117710350	chr19:41771056-41771057	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs572620168	chr19:41771085-41771086	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs3786554	chr19:41771099-41771100	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs559527303	chr19:41771123-41771124	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs574729434	chr19:41771214-41771215	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs556945233	chr19:41771375-41771376	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs542051071	chr19:41771438-41771439	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs187024710	chr19:41771490-41771491	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs190219145	chr19:41771491-41771492	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs73550561	chr19:41771501-41771502	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575174531	chr19:41771521-41771522	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs564294125	chr19:41771543-41771544	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs541889603	chr19:41771602-41771603	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs560513874	chr19:41771616-41771617	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs182493352	chr19:41771645-41771646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs547076865	chr19:41771657-41771658	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs187791803	chr19:41771667-41771668	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs111299832	chr19:41771709-41771710	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs529148675	chr19:41771718-41771719	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs550483750	chr19:41771722-41771723	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1721 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41767200-41770400	Active TSS	Brain Germinal Matrix	brain
2	chr19:41767400-41772400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:41767600-41770600	Active TSS	Fetal Brain Female	brain
4	chr19:41767600-41771400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:41767600-41771400	Active TSS	Fetal Stomach	stomach
6	chr19:41767600-41771800	Active TSS	Right Ventricle	heart
7	chr19:41767600-41772200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr19:41767600-41772200	Active TSS	Psoas Muscle	Psoas
9	chr19:41767600-41772400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:41767600-41772400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr19:41767800-41771200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr19:41767800-41771200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:41767800-41771400	Active TSS	Primary T cells from cord blood	blood
14	chr19:41767800-41771400	Active TSS	Brain Angular Gyrus	brain
15	chr19:41767800-41771400	Active TSS	Colon Smooth Muscle	Colon
16	chr19:41767800-41771800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:41767800-41771800	Active TSS	Fetal Kidney	kidney
18	chr19:41767800-41772000	Active TSS	Aorta	Aorta
19	chr19:41767800-41772200	Active TSS	Esophagus	oesophagus
20	chr19:41767800-41772200	Active TSS	Lung	lung
21	chr19:41767800-41772400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:41767800-41772400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr19:41767800-41772400	Active TSS	Right Atrium	heart
24	chr19:41767800-41772600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr19:41767800-41773200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr19:41768000-41770400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:41768000-41770400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:41768000-41770400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:41768000-41771200	Active TSS	Colonic Mucosa	Colon
30	chr19:41768000-41771400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:41768000-41771400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr19:41768000-41771400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr19:41768000-41771600	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr19:41768000-41771600	Active TSS	Placenta	Placenta
35	chr19:41768000-41771600	Active TSS	Left Ventricle	heart
36	chr19:41768000-41771600	Active TSS	Rectal Smooth Muscle	rectum
37	chr19:41768000-41771600	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr19:41768000-41771800	Active TSS	Fetal Intestine Large	intestine
39	chr19:41768000-41772000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr19:41768000-41772000	Active TSS	Gastric	stomach
41	chr19:41768000-41772200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:41768000-41772200	Active TSS	Ovary	ovary
43	chr19:41768000-41772400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:41768000-41772400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:41768000-41772400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:41768000-41772400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:41768000-41772400	Active TSS	HSMMtube	muscle
48	chr19:41768000-41772600	Active TSS	H9 Cell Line	embryonic stem cell
49	chr19:41768200-41770400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:41768200-41770400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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