Variant report

Variant	esv1836290
Chromosome Location	chr18:9611497-9614851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:744)
CpG islands
(count:123)
Chromatin interactive
region (count:29)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:9612249-9612537	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:9613528-9613697	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:9612362-9612525	K562	blood:	n/a	n/a
4	BACH1	chr18:9613850-9614215	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr18:9612954-9613235	GM12878	blood:	n/a	n/a
6	BCLAF1	chr18:9613533-9614307	GM12878	blood:	n/a	chr18:9613942-9613955
7	BCLAF1	chr18:9612190-9612625	GM12878	blood:	n/a	n/a
8	BHLHE40	chr18:9614571-9614942	GM12878	blood:	n/a	chr18:9614847-9614863 chr18:9614823-9614839
9	BRCA1	chr18:9612216-9612548	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr18:9613818-9614166	Hela-S3	cervix:	n/a	n/a
11	CCNT2	chr18:9613769-9615322	K562	blood:	n/a	chr18:9615058-9615067 chr18:9615031-9615040
12	CEBPB	chr18:9612277-9612522	HepG2	liver:	n/a	n/a
13	CEBPB	chr18:9612221-9612609	MCF-7	breast:	n/a	n/a
14	CEBPB	chr18:9612327-9612516	K562	blood:	n/a	n/a
15	CEBPB	chr18:9612232-9612639	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr18:9612277-9612596	A549	lung:	n/a	n/a
17	CEBPB	chr18:9612273-9612616	A549	lung:	n/a	n/a
18	CEBPB	chr18:9612162-9612626	A549	lung:	n/a	n/a
19	CEBPD	chr18:9614302-9615025	HepG2	liver:	n/a	n/a
20	CHD1	chr18:9614808-9615019	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr18:9613206-9613379	GM12878	blood:	n/a	n/a
22	CHD1	chr18:9613882-9614078	GM12878	blood:	n/a	n/a
23	CHD1	chr18:9613825-9614260	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr18:9613665-9614293	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr18:9613874-9614211	GM12878	blood:	n/a	n/a
26	CHD2	chr18:9613717-9614147	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr18:9614528-9614562	HepG2	liver:	n/a	n/a
28	CHD2	chr18:9612277-9612401	K562	blood:	n/a	n/a
29	CHD2	chr18:9613863-9614191	K562	blood:	n/a	n/a
30	CHD2	chr18:9614524-9615426	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr18:9613860-9614298	HepG2	liver:	n/a	n/a
32	CREB1	chr18:9613816-9614222	A549	lung:	n/a	n/a
33	CREB1	chr18:9614691-9615008	A549	lung:	n/a	n/a
34	CTCF	chr18:9614020-9614170	AG09319	gingival:	n/a	chr18:9614097-9614110
35	CTCF	chr18:9612580-9612730	GM12864	blood:	n/a	n/a
36	CTCF	chr18:9612281-9612515	Pancreas_OC	pancreas:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
37	CTCF	chr18:9612400-9612550	HFF	foreskin:	n/a	chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
38	CTCF	chr18:9612320-9612470	HMF	breast:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
39	CTCF	chr18:9612300-9612450	GM12801	blood:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
40	CTCF	chr18:9612243-9612517	Spleen_OC	spleen:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
41	CTCF	chr18:9612320-9612470	AG04449	skin:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
42	CTCF	chr18:9613920-9614070	RPTEC	kidney:	n/a	n/a
43	CTCF	chr18:9612316-9612484	GM10248	blood:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
44	CTCF	chr18:9612240-9612510	A549	lung:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
45	CTCF	chr18:9612300-9612450	K562	blood:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
46	CTCF	chr18:9613992-9614104	MCF-7	breast:	n/a	n/a
47	CTCF	chr18:9612300-9612450	NHEK	skin:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
48	CTCF	chr18:9613960-9614110	GM12878	blood:	n/a	chr18:9614097-9614110
49	CTCF	chr18:9613980-9614130	Caco-2	colon:	n/a	chr18:9614097-9614110
50	CTCF	chr18:9613980-9614130	GM12869	blood:	n/a	chr18:9614097-9614110

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:9614450-9614500	GM12891	blood:	n/a
2	chr18:9614450-9614500	GM12891	blood:	n/a
3	chr18:9614450-9614500	PANC-1	pancreas:	n/a
4	chr18:9614206-9614256	HRPEpiC	eye:	n/a
5	chr18:9614206-9614256	GM06990	blood:	n/a
6	chr18:9614450-9614500	HRE	kidney:	n/a
7	chr18:9614206-9614256	HL-60	blood:	n/a
8	chr18:9614450-9614500	ProgFib	skin:	n/a
9	chr18:9614206-9614256	U87	brain:	n/a
10	chr18:9614206-9614256	HIPEpiC	eye:	n/a
11	chr18:9614450-9614500	HMEC	breast:	n/a
12	chr18:9614450-9614500	HCM	heart:	n/a
13	chr18:9614206-9614256	AG04450	lung:	fetal
14	chr18:9614450-9614500	AoSMC	blood vessel:	n/a
15	chr18:9614450-9614500	HNPCEpiC	eye:	n/a
16	chr18:9614206-9614256	GM12892	blood:	n/a
17	chr18:9614206-9614256	HAEpiC	amniotic membrane:	n/a
18	chr18:9614450-9614500	AG04449	skin:	fetal
19	chr18:9614206-9614256	HCM	heart:	n/a
20	chr18:9614450-9614500	HRPEpiC	eye:	n/a
21	chr18:9614450-9614500	K562	blood:	n/a
22	chr18:9614450-9614500	NHBE	bronchial:	n/a
23	chr18:9614206-9614256	HCF	heart:	n/a
24	chr18:9614206-9614256	HNPCEpiC	eye:	n/a
25	chr18:9614450-9614500	MCF10A-Er-Src	breast:	n/a
26	chr18:9614206-9614256	SK-N-SH_RA	brain:	n/a
27	chr18:9614206-9614256	AG10803	skin:	n/a
28	chr18:9614206-9614256	NT2-D1	testis:	n/a
29	chr18:9614206-9614256	ovcar-3	ovarian:	n/a
30	chr18:9614206-9614256	GM12891	blood:	n/a
31	chr18:9614206-9614256	HUVEC	blood vessel:	n/a
32	chr18:9614450-9614500	H1-hESC	embryonic stem cell:	embryo
33	chr18:9614450-9614500	CMK	blood:	n/a
34	chr18:9614206-9614256	RPTEC	kidney:	n/a
35	chr18:9614450-9614500	NH-A	brain:	n/a
36	chr18:9614206-9614256	HEEpiC	esophagus:	n/a
37	chr18:9614206-9614256	HPAEpiC	pulmonary alveolar:	n/a
38	chr18:9614450-9614500	AG09309	skin:	n/a
39	chr18:9614450-9614500	RPTEC	kidney:	n/a
40	chr18:9614206-9614256	HEK293	kidney:	embryo
41	chr18:9614450-9614500	Caco-2	colon:	n/a
42	chr18:9614450-9614500	NT2-D1	testis:	n/a
43	chr18:9614206-9614256	AoSMC	blood vessel:	n/a
44	chr18:9614206-9614256	A549	lung:	n/a
45	chr18:9614206-9614256	NHBE	bronchial:	n/a
46	chr18:9614206-9614256	AG09309	skin:	n/a
47	chr18:9614206-9614256	IMR90	lung:	fetal
48	chr18:9614206-9614256	T-47D	breast:	n/a
49	chr18:9614450-9614500	U87	brain:	n/a
50	chr18:9614206-9614256	SAEC	small airway:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9575298..9576117-chr18:9611923..9612878,3	MCF-7	breast:
2	chr18:9612064..9613483-chr18:9661140..9662203,5	MCF-7	breast:
3	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
4	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
5	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
6	chr18:9612136..9615353-chr18:9912435..9915971,5	MCF-7	breast:
7	chr18:9610312..9611854-chr18:9611926..9614343,2	MCF-7	breast:
8	chr18:9612231..9612794-chr18:9683319..9684221,2	MCF-7	breast:
9	chr18:9613618..9614587-chr22:31686737..31687476,2	Hela-S3	cervix:
10	chr15:66994774..66995660-chr18:9613961..9614955,2	Hela-S3	cervix:
11	chr18:9610247..9612763-chr18:9683592..9685519,2	K562	blood:
12	chr18:9613016..9616228-chr18:9911513..9913644,4	K562	blood:
13	chr18:9614449..9616140-chr18:9677968..9679576,2	K562	blood:
14	chr18:9584254..9588034-chr18:9613364..9615601,3	MCF-7	breast:
15	chr18:9598014..9601741-chr18:9607589..9612497,6	MCF-7	breast:
16	chr18:9613003..9613557-chr7:100026358..100026919,2	Hela-S3	cervix:
17	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:
18	chr18:9474922..9476536-chr18:9613527..9616238,2	MCF-7	breast:
19	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
20	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
21	chr17:57970172..57971882-chr18:9614484..9616129,2	MCF-7	breast:
22	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
23	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
24	chr18:9612320..9612866-chr18:9673221..9674104,3	MCF-7	breast:
25	chr18:9614430..9615143-chr19:1249294..1250146,2	Hela-S3	cervix:
26	chr1:28974882..28975858-chr18:9614139..9614753,2	Hela-S3	cervix:
27	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
28	chr18:9594858..9597558-chr18:9614248..9616397,2	MCF-7	breast:
29	chr18:9612893..9615735-chr18:9913834..9918265,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALBP1-2	chr18:9614694-9615333	NONHSAT057230
2	lnc-PIEZO2-14	chr18:9614224-9614272	NONHSAT057228

No data

Variant related genes	Relation type
ENSG00000263627	TF binding region
PPP4R1	TF binding region
ENSG00000263627	CpG island
PPP4R1	CpG island
ENSG00000265564	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000264644	chromatin interactions
ENSG00000100100	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000167470	chromatin interactions
ENSG00000168461	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000212572	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000266541	chromatin interactions
ENSG00000272799	chromatin interactions
ENSG00000154845	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000137834	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000146834	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1869737	chr18:9611497-9611498	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534389854	chr18:9611567-9611568	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190123865	chr18:9611568-9611569	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568157675	chr18:9611637-9611638	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535495211	chr18:9611654-9611655	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs373051758	chr18:9611669-9611670	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573768126	chr18:9611735-9611736	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147525779	chr18:9611769-9611770	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs545798384	chr18:9611775-9611776	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558007834	chr18:9611776-9611777	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140312633	chr18:9611799-9611800	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182807943	chr18:9611800-9611801	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1869738	chr18:9611807-9611808	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529357821	chr18:9611808-9611809	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs535143008	chr18:9611827-9611828	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562568299	chr18:9611869-9611870	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs1869739	chr18:9611872-9611873	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551822276	chr18:9611878-9611879	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577677657	chr18:9611879-9611880	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373657479	chr18:9611882-9611883	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560830783	chr18:9611900-9611901	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545116036	chr18:9611966-9611967	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs112507760	chr18:9612003-9612004	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs34046569	chr18:9612011-9612012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs531735118	chr18:9612019-9612020	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs397829918	chr18:9612025-9612026	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs560946328	chr18:9612028-9612029	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs8096551	chr18:9612086-9612087	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567817093	chr18:9612167-9612168	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs535557911	chr18:9612180-9612181	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs550664731	chr18:9612213-9612214	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs142638312	chr18:9612264-9612265	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs575578089	chr18:9612299-9612300	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs187931623	chr18:9612340-9612341	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs557807410	chr18:9612344-9612345	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs573087591	chr18:9612394-9612395	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs192221851	chr18:9612417-9612418	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs555159556	chr18:9612429-9612430	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs573474220	chr18:9612457-9612458	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs544331748	chr18:9612479-9612480	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs150983220	chr18:9612490-9612491	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs113172068	chr18:9612525-9612526	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs545384966	chr18:9612556-9612557	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs543291426	chr18:9612569-9612570	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs143498088	chr18:9612695-9612696	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs73942114	chr18:9612705-9612706	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146746406	chr18:9612787-9612788	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs561485763	chr18:9612802-9612803	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs531919292	chr18:9612822-9612823	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs569460840	chr18:9612866-9612867	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:9588600-9612400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:9594200-9613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:9595200-9612000	Weak transcription	Esophagus	oesophagus
6	chr18:9597400-9613200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:9598000-9612600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:9601800-9612200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr18:9604800-9612200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr18:9604800-9612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr18:9605600-9611600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:9607200-9613400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr18:9608000-9611600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:9608200-9613600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr18:9609000-9612200	Weak transcription	Fetal Kidney	kidney
16	chr18:9609000-9612400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr18:9609200-9612200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr18:9609400-9612000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:9609400-9612000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr18:9609400-9612400	Weak transcription	Aorta	Aorta
21	chr18:9609400-9612600	Weak transcription	Brain Angular Gyrus	brain
22	chr18:9609400-9612800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr18:9609400-9613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr18:9609600-9612000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr18:9609600-9612200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr18:9609600-9612200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr18:9609600-9612200	Weak transcription	Brain Substantia Nigra	brain
28	chr18:9609600-9612200	Weak transcription	Left Ventricle	heart
29	chr18:9609600-9612200	Weak transcription	Small Intestine	intestine
30	chr18:9609600-9612200	Strong transcription	HSMM	muscle
31	chr18:9609600-9612400	Weak transcription	Ovary	ovary
32	chr18:9609600-9612400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr18:9609600-9612400	Weak transcription	Right Atrium	heart
34	chr18:9609600-9612400	Weak transcription	Right Ventricle	heart
35	chr18:9609600-9612600	Weak transcription	Primary T cells from cord blood	blood
36	chr18:9609600-9613000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr18:9609600-9613200	Weak transcription	Thymus	Thymus
38	chr18:9609600-9613400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr18:9609800-9612200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr18:9609800-9612200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr18:9609800-9613000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr18:9610000-9612400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:9610200-9612200	Genic enhancers	K562	blood
44	chr18:9610400-9611600	Strong transcription	Fetal Intestine Small	intestine
45	chr18:9610400-9611600	Genic enhancers	Fetal Muscle Leg	muscle
46	chr18:9610400-9612000	Genic enhancers	HUVEC	blood vessel
47	chr18:9610400-9612200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr18:9610400-9612200	Genic enhancers	A549	lung
49	chr18:9610400-9612400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr18:9610600-9611600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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