Variant report

Variant	esv3371673
Chromosome Location	chr19:35758137-35761085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1014)
CpG islands
(count:794)
Chromatin interactive
region (count:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1014 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:35760427-35760580	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:35760575-35760765	K562	blood:	n/a	n/a
3	ATF2	chr19:35758393-35758974	GM12878	blood:	n/a	n/a
4	ATF2	chr19:35760455-35760756	GM12878	blood:	n/a	n/a
5	ATF3	chr19:35759746-35759868	GM12878	blood:	n/a	n/a
6	ATF3	chr19:35759681-35759888	HepG2	liver:	n/a	n/a
7	ATF3	chr19:35760436-35760816	K562	blood:	n/a	n/a
8	ATF3	chr19:35760302-35760774	A549	lung:	n/a	n/a
9	ATF3	chr19:35759677-35759909	K562	blood:	n/a	n/a
10	BACH1	chr19:35758580-35758774	K562	blood:	n/a	n/a
11	BACH1	chr19:35760675-35760868	K562	blood:	n/a	n/a
12	BCL3	chr19:35758185-35759297	GM12878	blood:	n/a	chr19:35759169-35759182 chr19:35758899-35758908
13	BCL3	chr19:35757335-35759150	A549	lung:	n/a	chr19:35758899-35758908
14	BCL3	chr19:35758018-35759011	A549	lung:	n/a	chr19:35758899-35758908
15	BCL3	chr19:35760271-35760993	A549	lung:	n/a	n/a
16	BCLAF1	chr19:35758285-35759163	GM12878	blood:	n/a	chr19:35758899-35758908
17	BCLAF1	chr19:35760253-35760766	GM12878	blood:	n/a	n/a
18	BCLAF1	chr19:35760340-35760864	GM12878	blood:	n/a	n/a
19	BHLHE40	chr19:35760333-35760901	K562	blood:	n/a	n/a
20	BHLHE40	chr19:35760367-35760860	HepG2	liver:	n/a	n/a
21	BHLHE40	chr19:35758512-35759202	K562	blood:	n/a	n/a
22	BHLHE40	chr19:35760408-35760892	GM12878	blood:	n/a	n/a
23	BHLHE40	chr19:35758694-35759266	GM12878	blood:	n/a	n/a
24	BHLHE40	chr19:35759714-35759937	GM12878	blood:	n/a	n/a
25	BHLHE40	chr19:35759679-35760018	K562	blood:	n/a	n/a
26	BRCA1	chr19:35760534-35760858	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr19:35760430-35760606	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr19:35758399-35758539	HepG2	liver:	n/a	n/a
29	CBX3	chr19:35760325-35760913	K562	blood:	n/a	n/a
30	CBX3	chr19:35760636-35760809	K562	blood:	n/a	n/a
31	CCNT2	chr19:35757482-35760936	K562	blood:	n/a	chr19:35759171-35759180 chr19:35759236-35759245 chr19:35760462-35760471
32	CEBPB	chr19:35760460-35760899	Hela-S3	cervix:	n/a	n/a
33	CEBPD	chr19:35759959-35760606	HepG2	liver:	n/a	n/a
34	CEBPD	chr19:35760315-35760634	K562	blood:	n/a	n/a
35	CEBPD	chr19:35758719-35759384	HepG2	liver:	n/a	n/a
36	CHD1	chr19:35759515-35759643	GM12878	blood:	n/a	chr19:35759548-35759558
37	CHD1	chr19:35758299-35758500	GM12878	blood:	n/a	n/a
38	CHD1	chr19:35760356-35760564	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr19:35760352-35760835	GM12878	blood:	n/a	n/a
40	CHD2	chr19:35760353-35760734	K562	blood:	n/a	n/a
41	CHD2	chr19:35760280-35760887	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr19:35758749-35759279	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr19:35758092-35758164	HepG2	liver:	n/a	n/a
44	CHD2	chr19:35759108-35759132	HepG2	liver:	n/a	n/a
45	CHD2	chr19:35760374-35760890	GM12878	blood:	n/a	n/a
46	CHD2	chr19:35758127-35759348	K562	blood:	n/a	n/a
47	CHD2	chr19:35760441-35760831	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr19:35758217-35759420	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr19:35758676-35758869	HepG2	liver:	n/a	n/a
50	CHD2	chr19:35759728-35760026	Hela-S3	cervix:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:35759698-35759748	ProgFib	skin:	n/a
2	chr19:35759698-35759748	ProgFib	skin:	n/a
3	chr19:35759230-35759280	NT2-D1	testis:	n/a
4	chr19:35759692-35759742	A549	lung:	n/a
5	chr19:35759698-35759748	HUVEC	blood vessel:	n/a
6	chr19:35758185-35758235	H1-hESC	embryonic stem cell:	embryo
7	chr19:35758185-35758235	SK-N-SH_RA	brain:	n/a
8	chr19:35758855-35758905	NHDF-neo	bronchial:	n/a
9	chr19:35758855-35758905	SK-N-SH	brain:	n/a
10	chr19:35759696-35759746	RPTEC	kidney:	n/a
11	chr19:35758855-35758905	U87	brain:	n/a
12	chr19:35759698-35759748	SAEC	small airway:	n/a
13	chr19:35758185-35758235	SK-N-SH	brain:	n/a
14	chr19:35759698-35759748	ovcar-3	ovarian:	n/a
15	chr19:35758185-35758235	ovcar-3	ovarian:	n/a
16	chr19:35759692-35759742	HL-60	blood:	n/a
17	chr19:35759230-35759280	NHBE	bronchial:	n/a
18	chr19:35759692-35759742	HEK293	kidney:	embryo
19	chr19:35758300-35758350	CMK	blood:	n/a
20	chr19:35759233-35759283	AoSMC	blood vessel:	n/a
21	chr19:35758185-35758235	AG09309	skin:	n/a
22	chr19:35758185-35758235	HNPCEpiC	eye:	n/a
23	chr19:35759698-35759748	GM19239	blood:	n/a
24	chr19:35759230-35759280	HIPEpiC	eye:	n/a
25	chr19:35759692-35759742	SK-N-MC	brain:	n/a
26	chr19:35759995-35760045	ovcar-3	ovarian:	n/a
27	chr19:35759230-35759280	HCPEpiC	choroid plexus:	n/a
28	chr19:35759698-35759748	AG09309	skin:	n/a
29	chr19:35759185-35759235	Caco-2	colon:	n/a
30	chr19:35760677-35760727	SK-N-SH_RA	brain:	n/a
31	chr19:35759692-35759742	GM12878	blood:	n/a
32	chr19:35759698-35759748	NHDF-neo	bronchial:	n/a
33	chr19:35758185-35758235	IMR90	lung:	fetal
34	chr19:35759185-35759235	T-47D	breast:	n/a
35	chr19:35759185-35759235	GM06990	blood:	n/a
36	chr19:35758855-35758905	RPTEC	kidney:	n/a
37	chr19:35758855-35758905	IMR90	lung:	fetal
38	chr19:35759230-35759280	K562	blood:	n/a
39	chr19:35760861-35760911	GM19239	blood:	n/a
40	chr19:35760861-35760911	HPAEpiC	pulmonary alveolar:	n/a
41	chr19:35760554-35760604	BJ	skin:	n/a
42	chr19:35759185-35759235	ECC-1	luminal epithelium:	n/a
43	chr19:35759185-35759235	GM12891	blood:	n/a
44	chr19:35760861-35760911	GM06990	blood:	n/a
45	chr19:35758855-35758905	GM12878	blood:	n/a
46	chr19:35759233-35759283	HEK293	kidney:	embryo
47	chr19:35759698-35759748	AG09319	gingival:	n/a
48	chr19:35758300-35758350	PANC-1	pancreas:	n/a
49	chr19:35760677-35760727	GM12878	blood:	n/a
50	chr19:35759995-35760045	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:35758876..35761296-chr19:36162627..36164596,2	MCF-7	breast:
2	chr19:35760565..35761068-chr19:36036654..36037399,2	MCF-7	breast:
3	chr19:35606807..35607648-chr19:35759190..35759979,2	MCF-7	breast:
4	chr19:35758781..35763844-chr19:35840402..35843897,5	K562	blood:
5	chr19:35757401..35760609-chr19:35817502..35820242,3	MCF-7	breast:
6	chr19:35760058..35760782-chr19:35985935..35986619,2	MCF-7	breast:
7	chr19:35758290..35762202-chr19:35770035..35773582,5	K562	blood:
8	chr19:35632786..35634532-chr19:35758751..35760736,2	MCF-7	breast:
9	chr19:35758518..35761825-chr19:35766786..35769886,4	K562	blood:
10	chr19:35757206..35760502-chr19:36133299..36134978,3	K562	blood:
11	chr19:35760524..35761090-chr19:35804405..35805080,2	MCF-7	breast:
12	chr19:35758257..35759090-chr22:20307202..20307771,2	HCT-116	colon:
13	chr19:35621827..35625973-chr19:35758783..35761524,4	K562	blood:
14	chr19:35758542..35759413-chr9:89335512..89336479,2	Hela-S3	cervix:
15	chr19:35738397..35739313-chr19:35760217..35761209,4	K562	blood:
16	chr19:35757352..35763490-chr19:35798817..35804347,10	MCF-7	breast:
17	chr19:35609312..35611565-chr19:35756942..35759045,2	MCF-7	breast:
18	chr19:35643953..35647244-chr19:35757991..35762600,5	K562	blood:
19	chr19:35759827..35760405-chr19:35809677..35810195,2	MCF-7	breast:
20	chr19:35489265..35492467-chr19:35757325..35761392,4	MCF-7	breast:
21	chr19:35644831..35647736-chr19:35757479..35762010,7	K562	blood:
22	chr19:35631019..35636055-chr19:35759105..35762052,6	K562	blood:
23	chr19:35758844..35760411-chr19:36208018..36210634,2	MCF-7	breast:
24	chr19:35519701..35523372-chr19:35759122..35762184,3	MCF-7	breast:
25	chr19:35758351..35760547-chr19:36035244..36036936,2	K562	blood:
26	chr19:35703379..35705750-chr19:35757891..35759671,2	K562	blood:
27	chr19:35653961..35658211-chr19:35756444..35760028,4	K562	blood:
28	chr19:35760212..35761043-chr19:35985491..35986483,3	K562	blood:
29	chr19:35606190..35608948-chr19:35758089..35760564,2	MCF-7	breast:
30	chr19:35757826..35762091-chr19:35999806..36002359,4	MCF-7	breast:
31	chr19:35758432..35759374-chr8:145149684..145150200,2	Hela-S3	cervix:
32	chr19:35758155..35760598-chr19:35818136..35820258,3	MCF-7	breast:
33	chr19:35757743..35760122-chr19:36207492..36209553,2	MCF-7	breast:
34	chr19:35760013..35761636-chr19:35979753..35981551,2	MCF-7	breast:
35	chr19:35759065..35761020-chr19:35999917..36001765,3	MCF-7	breast:
36	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
37	chr19:35756917..35760158-chr19:36118192..36121519,3	K562	blood:
38	chr19:35759096..35761188-chr19:36236088..36238876,2	MCF-7	breast:
39	chr19:35759344..35762217-chr19:35841314..35843989,4	MCF-7	breast:
40	chr19:35758596..35761330-chr19:35808386..35811398,6	MCF-7	breast:
41	chr19:35759152..35761759-chr19:35938790..35942242,3	MCF-7	breast:
42	chr19:35557704..35558690-chr19:35758364..35759482,3	K562	blood:
43	chr19:35631425..35638367-chr19:35753629..35761294,12	MCF-7	breast:
44	chr19:35739649..35740153-chr19:35760440..35761040,2	K562	blood:
45	chr19:35601805..35607657-chr19:35757139..35762248,8	MCF-7	breast:
46	chr19:35632199..35636848-chr19:35758097..35761761,8	K562	blood:
47	chr19:35758851..35760622-chr19:36036103..36038320,2	MCF-7	breast:
48	chr19:35758925..35762628-chr19:36133039..36136228,4	MCF-7	breast:
49	chr19:35653961..35659020-chr19:35755691..35760689,8	K562	blood:
50	chr19:35756455..35758959-chr19:35940414..35943178,2	MCF-7	breast:

No data

Variant related genes	Relation type
USF2	TF binding region
USF2	CpG island
ENSG00000089356	chromatin interactions
ENSG00000161249	chromatin interactions
ENSG00000267120	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000153902	chromatin interactions
ENSG00000188223	chromatin interactions
ENSG00000105711	chromatin interactions
ENSG00000236144	chromatin interactions
ENSG00000221946	chromatin interactions
ENSG00000188508	chromatin interactions
ENSG00000126254	chromatin interactions
ENSG00000205155	chromatin interactions
ENSG00000179091	chromatin interactions
ENSG00000269303	chromatin interactions
ENSG00000266964	chromatin interactions
ENSG00000105698	chromatin interactions
ENSG00000105677	chromatin interactions
ENSG00000089351	chromatin interactions
ENSG00000089327	chromatin interactions
ENSG00000126262	chromatin interactions
ENSG00000105697	chromatin interactions
ENSG00000105695	chromatin interactions
ENSG00000272333	chromatin interactions
ENSG00000012124	chromatin interactions
ENSG00000128185	chromatin interactions
ENSG00000105672	chromatin interactions
ENSG00000226510	chromatin interactions
ENSG00000126266	chromatin interactions
ENSG00000161265	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547883600	chr19:35758137-35758138	Active TSS Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs561306998	chr19:35758161-35758162	Active TSS Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs375991023	chr19:35758172-35758173	Active TSS Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs527328416	chr19:35758195-35758196	Active TSS Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs368832380	chr19:35758198-35758199	Active TSS Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs546886615	chr19:35758242-35758243	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs372088679	chr19:35758252-35758253	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs543146732	chr19:35758261-35758262	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs142507475	chr19:35758275-35758276	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs35939322	chr19:35758276-35758277	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs112341068	chr19:35758277-35758278	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs397751431	chr19:35758279-35758280	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs112715995	chr19:35758280-35758281	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs199698908	chr19:35758283-35758284	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs377051575	chr19:35758293-35758294	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs199499157	chr19:35758296-35758297	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs200597319	chr19:35758306-35758307	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs369256644	chr19:35758336-35758337	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs111251702	chr19:35758340-35758341	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs376578385	chr19:35758351-35758352	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs552463790	chr19:35758357-35758358	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs370023714	chr19:35758366-35758367	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs145609621	chr19:35758368-35758369	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs569459211	chr19:35758385-35758386	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs139691797	chr19:35758390-35758391	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs145256151	chr19:35758420-35758421	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs112196604	chr19:35758427-35758428	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs555138467	chr19:35758430-35758431	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs141654455	chr19:35758440-35758441	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs143683475	chr19:35758467-35758468	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
31	rs534234580	chr19:35758478-35758479	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
32	rs151048240	chr19:35758488-35758489	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
33	rs554101125	chr19:35758500-35758501	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs140932263	chr19:35758520-35758521	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs200615126	chr19:35758550-35758551	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
36	rs368874716	chr19:35758578-35758579	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
37	rs150280810	chr19:35758583-35758584	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
38	rs373039053	chr19:35758598-35758599	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
39	rs139004765	chr19:35758620-35758621	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
40	rs369258572	chr19:35758625-35758626	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
41	rs372796154	chr19:35758643-35758644	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
42	rs376990286	chr19:35758659-35758660	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs200065932	chr19:35758670-35758671	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs370080183	chr19:35758676-35758677	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs541508672	chr19:35758686-35758687	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs201386786	chr19:35758689-35758690	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs200824244	chr19:35758691-35758692	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs374060622	chr19:35758720-35758721	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs200169988	chr19:35758733-35758734	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs376432696	chr19:35758738-35758739	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pleomorphic liposarcoma	18784837	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	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35754800-35758200	Enhancers	Primary B cells from cord blood	blood
2	chr19:35755000-35758200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:35755200-35758400	Enhancers	Fetal Heart	heart
4	chr19:35756000-35758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:35757000-35758200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:35757000-35758200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr19:35757200-35758200	Enhancers	Primary B cells from peripheral blood	blood
8	chr19:35757200-35758400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:35757200-35758600	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr19:35757400-35758200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:35757400-35758400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
12	chr19:35757400-35758600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:35757400-35758600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:35757400-35758600	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr19:35757400-35758600	Enhancers	Fetal Brain Male	brain
16	chr19:35757400-35758600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr19:35757600-35758200	Genic enhancers	H1 Cell Line	embryonic stem cell
18	chr19:35757600-35758200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:35757600-35758200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr19:35757600-35758200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:35757600-35758200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:35757600-35758200	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr19:35757600-35758200	Flanking Active TSS	GM12878-XiMat	blood
24	chr19:35757600-35758200	Flanking Active TSS	NHEK	skin
25	chr19:35757600-35758200	Flanking Active TSS	Osteobl	bone
26	chr19:35757600-35758400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr19:35757600-35758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:35757600-35758600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr19:35757600-35758600	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr19:35757600-35758600	Enhancers	Stomach Mucosa	stomach
31	chr19:35757600-35758800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr19:35757600-35758800	Flanking Active TSS	HMEC	breast
33	chr19:35757600-35759000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr19:35757600-35761000	Active TSS	Hela-S3	cervix
35	chr19:35757600-35761000	Active TSS	HSMM	muscle
36	chr19:35757600-35761200	Active TSS	NH-A	brain
37	chr19:35757800-35758200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:35757800-35758200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:35757800-35758200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:35757800-35758200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr19:35757800-35758200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr19:35757800-35758200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr19:35757800-35758200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr19:35757800-35758200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:35757800-35758200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:35757800-35758200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr19:35757800-35758200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr19:35757800-35758200	Flanking Active TSS	Fetal Lung	lung
49	chr19:35757800-35758200	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr19:35757800-35758200	Flanking Active TSS	Fetal Thymus	thymus

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