Variant report

Variant	esv3361931
Chromosome Location	chr17:20539962-20845258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3182)
CpG islands
(count:4274)
Chromatin interactive
region (count:46)
LncRNA
region (count:45)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3182 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:20788875-20788945	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:20728931-20729193	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:20776349-20776886	K562	blood:	n/a	n/a
4	ARID3A	chr17:20704874-20705183	HepG2	liver:	n/a	n/a
5	ARID3A	chr17:20771647-20772028	HepG2	liver:	n/a	n/a
6	ARID3A	chr17:20781779-20781972	K562	blood:	n/a	n/a
7	ARID3A	chr17:20779608-20779761	K562	blood:	n/a	n/a
8	ARID3A	chr17:20774749-20774943	K562	blood:	n/a	n/a
9	ARID3A	chr17:20704861-20705241	K562	blood:	n/a	n/a
10	ARID3A	chr17:20825594-20826007	K562	blood:	n/a	n/a
11	ARID3A	chr17:20811751-20811926	K562	blood:	n/a	n/a
12	ATF1	chr17:20637414-20637538	K562	blood:	n/a	n/a
13	ATF1	chr17:20705017-20705455	K562	blood:	n/a	n/a
14	ATF1	chr17:20771215-20771847	K562	blood:	n/a	n/a
15	ATF1	chr17:20769945-20769997	K562	blood:	n/a	n/a
16	ATF2	chr17:20552417-20552929	GM12878	blood:	n/a	n/a
17	ATF2	chr17:20811789-20812190	GM12878	blood:	n/a	n/a
18	ATF2	chr17:20811529-20812308	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr17:20552401-20552830	GM12878	blood:	n/a	n/a
20	ATF3	chr17:20705184-20705381	K562	blood:	n/a	n/a
21	BACH1	chr17:20803309-20803341	K562	blood:	n/a	n/a
22	BACH1	chr17:20801602-20801919	K562	blood:	n/a	n/a
23	BACH1	chr17:20786491-20789786	K562	blood:	n/a	n/a
24	BACH1	chr17:20837612-20837976	K562	blood:	n/a	n/a
25	BACH1	chr17:20825619-20825937	K562	blood:	n/a	n/a
26	BACH1	chr17:20833089-20833120	K562	blood:	n/a	n/a
27	BACH1	chr17:20811906-20812101	K562	blood:	n/a	n/a
28	BACH1	chr17:20837629-20837975	H1-hESC	embryonic stem cell:	n/a	n/a
29	BATF	chr17:20568713-20568948	GM12878	blood:	n/a	chr17:20568784-20568795
30	BATF	chr17:20552419-20552811	GM12878	blood:	n/a	n/a
31	BATF	chr17:20602187-20602524	GM12878	blood:	n/a	n/a
32	BATF	chr17:20573899-20574074	GM12878	blood:	n/a	n/a
33	BATF	chr17:20552423-20552925	GM12878	blood:	n/a	n/a
34	BATF	chr17:20602164-20602479	GM12878	blood:	n/a	n/a
35	BATF	chr17:20554357-20554645	GM12878	blood:	n/a	n/a
36	BCL11A	chr17:20581794-20582050	GM12878	blood:	n/a	chr17:20582005-20582012
37	BCL11A	chr17:20559489-20559685	GM12878	blood:	n/a	n/a
38	BCL11A	chr17:20552438-20552751	GM12878	blood:	n/a	n/a
39	BCL11A	chr17:20603932-20604264	GM12878	blood:	n/a	n/a
40	BCL11A	chr17:20554373-20554609	GM12878	blood:	n/a	n/a
41	BCL11A	chr17:20602069-20602629	GM12878	blood:	n/a	n/a
42	BCL11A	chr17:20602137-20602533	GM12878	blood:	n/a	n/a
43	BCL11A	chr17:20775300-20775548	GM12878	blood:	n/a	n/a
44	BCL11A	chr17:20554375-20554592	GM12878	blood:	n/a	n/a
45	BCL11A	chr17:20552374-20552875	GM12878	blood:	n/a	n/a
46	BCL3	chr17:20810255-20812637	K562	blood:	n/a	chr17:20811749-20811762
47	BCL3	chr17:20789278-20789946	K562	blood:	n/a	n/a
48	BCL3	chr17:20803561-20803762	K562	blood:	n/a	n/a
49	BCL3	chr17:20786672-20788707	K562	blood:	n/a	chr17:20787427-20787436 chr17:20787827-20787836
50	BCL3	chr17:20674383-20674846	GM12878	blood:	n/a	n/a

(count:4274 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20832995-20833045	HEK293	kidney:	embryo
2	chr17:20800556-20800606	GM06990	blood:	n/a
3	chr17:20770315-20770365	SK-N-SH	brain:	n/a
4	chr17:20799491-20799541	BE2_C	brain:	n/a
5	chr17:20832995-20833045	HEK293	kidney:	embryo
6	chr17:20800556-20800606	GM06990	blood:	n/a
7	chr17:20770315-20770365	SK-N-SH	brain:	n/a
8	chr17:20799491-20799541	BE2_C	brain:	n/a
9	chr17:20811916-20811966	BE2_C	brain:	n/a
10	chr17:20811255-20811305	HIPEpiC	eye:	n/a
11	chr17:20798895-20798945	HUVEC	blood vessel:	n/a
12	chr17:20745278-20745328	NHBE	bronchial:	n/a
13	chr17:20744547-20744597	SK-N-SH	brain:	n/a
14	chr17:20744547-20744597	MCF-7	breast:	n/a
15	chr17:20688522-20688572	HCT-116	colon:	n/a
16	chr17:20767750-20767800	SK-N-SH	brain:	n/a
17	chr17:20771377-20771427	MCF10A-Er-Src	breast:	n/a
18	chr17:20799491-20799541	GM12891	blood:	n/a
19	chr17:20755949-20755999	RPTEC	kidney:	n/a
20	chr17:20840716-20840766	GM12892	blood:	n/a
21	chr17:20758443-20758493	MCF10A-Er-Src	breast:	n/a
22	chr17:20799714-20799764	HUVEC	blood vessel:	n/a
23	chr17:20771879-20771929	PANC-1	pancreas:	n/a
24	chr17:20799769-20799819	HepG2	liver:	n/a
25	chr17:20811860-20811910	HRPEpiC	eye:	n/a
26	chr17:20755508-20755558	HUVEC	blood vessel:	n/a
27	chr17:20747058-20747108	AoSMC	blood vessel:	n/a
28	chr17:20812157-20812207	HEEpiC	esophagus:	n/a
29	chr17:20839291-20839341	GM06990	blood:	n/a
30	chr17:20809014-20809064	SK-N-SH_RA	brain:	n/a
31	chr17:20687481-20687531	GM12892	blood:	n/a
32	chr17:20832874-20832924	ProgFib	skin:	n/a
33	chr17:20805904-20805954	ProgFib	skin:	n/a
34	chr17:20770315-20770365	Caco-2	colon:	n/a
35	chr17:20799676-20799726	HUVEC	blood vessel:	n/a
36	chr17:20805664-20805714	AoSMC	blood vessel:	n/a
37	chr17:20755508-20755558	Jurkat	blood:	n/a
38	chr17:20758443-20758493	PrEC	prostate:	n/a
39	chr17:20755508-20755558	U87	brain:	n/a
40	chr17:20690807-20690857	HCF	heart:	n/a
41	chr17:20803963-20804013	BJ	skin:	n/a
42	chr17:20803963-20804013	NH-A	brain:	n/a
43	chr17:20747073-20747123	GM19239	blood:	n/a
44	chr17:20795395-20795445	HCM	heart:	n/a
45	chr17:20688701-20688751	HNPCEpiC	eye:	n/a
46	chr17:20683924-20683974	PFSK-1	brain:	n/a
47	chr17:20758443-20758493	HepG2	liver:	n/a
48	chr17:20744547-20744597	AoSMC	blood vessel:	n/a
49	chr17:20832113-20832163	HUVEC	blood vessel:	n/a
50	chr17:20812157-20812207	CMK	blood:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20839289..20841675-chr17:20882909..20885590,2	MCF-7	breast:
2	chr17:20649688..20651234-chr17:58034050..58037704,4	MCF-7	breast:
3	chr17:20774798..20778610-chr17:20778817..20781618,3	K562	blood:
4	chr17:20783306..20785589-chr4:33857111..33859422,2	K562	blood:
5	chr17:20610050..20610947-chr17:30454022..30454629,2	Hela-S3	cervix:
6	chr17:20816615..20818286-chr17:20839545..20841333,2	K562	blood:
7	chr17:20639441..20641960-chr17:20642430..20644326,2	K562	blood:
8	chr17:20814750..20817226-chr17:20817362..20820351,2	K562	blood:
9	chr17:20780706..20782458-chr17:20785204..20786797,2	K562	blood:
10	chr17:20778622..20781617-chr17:20784685..20786554,2	K562	blood:
11	chr17:20814247..20817277-chr17:20817362..20820386,3	K562	blood:
12	chr17:20831498..20833246-chr17:20835693..20837692,2	K562	blood:
13	chr17:20774807..20776983-chr17:20818893..20820623,2	K562	blood:
14	chr17:20698627..20701345-chr17:20703321..20705574,3	K562	blood:
15	chr17:20830020..20832888-chr17:20849310..20850863,2	K562	blood:
16	chr17:20825547..20827539-chr17:20831716..20833822,2	K562	blood:
17	chr17:20646890..20651186-chr17:58030459..58033432,3	MCF-7	breast:
18	chr17:20651225..20652727-chr17:58034005..58036459,2	MCF-7	breast:
19	chr17:20816615..20818286-chr17:20839545..20841333,2	K562	blood:
20	chr17:20678328..20679928-chr17:20703647..20705362,2	K562	blood:
21	chr17:20647874..20648866-chr17:58031160..58032144,3	MCF-7	breast:
22	chr17:20689022..20691056-chr17:20693730..20696703,2	K562	blood:
23	chr17:20774798..20778610-chr17:20778817..20781618,3	K562	blood:
24	chr17:20689022..20691056-chr17:20693730..20696703,2	K562	blood:
25	chr17:20828074..20830822-chr17:20831335..20835053,4	K562	blood:
26	chr17:20780706..20782458-chr17:20785204..20786797,2	K562	blood:
27	chr17:20773460..20776251-chr4:34006664..34009123,2	K562	blood:
28	chr17:20811890..20812833-chr21:33785672..33786611,2	Hela-S3	cervix:
29	chr17:20698627..20701345-chr17:20703321..20705574,3	K562	blood:
30	chr17:20782994..20785589-chr4:33857111..33859539,3	K562	blood:
31	chr17:20649661..20650164-chr17:58032683..58033398,2	MCF-7	breast:
32	chr17:20769754..20771503-chr17:25415743..25417258,2	K562	blood:
33	chr17:20639441..20641960-chr17:20642430..20644326,2	K562	blood:
34	chr17:20814247..20817277-chr17:20817362..20820386,3	K562	blood:
35	chr17:20704648..20705333-chr17:20895940..20896489,2	MCF-7	breast:
36	chr17:20774807..20776983-chr17:20818893..20820623,2	K562	blood:
37	chr17:20776529..20779374-chr17:21510196..21511711,2	K562	blood:
38	chr17:20842150..20844007-chr17:20857280..20860261,2	MCF-7	breast:
39	chr17:20828074..20830327-chr17:20832191..20833842,2	K562	blood:
40	chr17:20778622..20781617-chr17:20784685..20786554,2	K562	blood:
41	chr17:20640004..20640962-chr17:58024195..58025007,2	MCF-7	breast:
42	chr17:20766270..20770547-chr17:21518548..21521594,4	K562	blood:
43	chr17:20776859..20779023-chr17:21114293..21116494,2	K562	blood:
44	chr17:20814750..20817226-chr17:20817362..20820351,2	K562	blood:
45	chr17:20836869..20840041-chr17:20841054..20844534,3	K562	blood:
46	chr17:20815505..20817984-chr17:20903354..20904947,2	MCF-7	breast:

(count:45 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHRS7B-5	chr17:20832744-20833359	ENSG00000233098.3
2	lnc-DHRS7B-5	chr17:20802293-20802444	ENSG00000233098.3
3	lnc-DHRS7B-5	chr17:20827672-20827738	ENSG00000233098.3
4	lnc-CDRT15L2-5	chr17:20678955-20680218	NONHSAT146832
5	lnc-DHRS7B-5	chr17:20824338-20824482	XLOC_012139
6	lnc-CDRT15L2-1	chr17:20691697-20691952	XLOC_012138
7	lnc-CDRT15L2-1	chr17:20692057-20692707	XLOC_012138
8	lnc-CDRT15L2-1	chr17:20691384-20692912	NONHSAT146833
9	lnc-CCDC144NL-5	chr17:20674371-20674740	NONHSAT146831
10	lnc-CDRT15L2-6	chr17:20725246-20725730	FPKM1_group_12497_transcript_4
11	lnc-DHRS7B-5	chr17:20841851-20841973	ENSG00000233098.3
12	lnc-DHRS7B-5	chr17:20836027-20836131	ENSG00000233098.3
13	lnc-DHRS7B-5	chr17:20827672-20828146	ENSG00000233098.3
14	lnc-DHRS7B-5	chr17:20771856-20771998	ENSG00000233098.3
15	lnc-DHRS7B-5	chr17:20827672-20828146	XLOC_012139
16	lnc-DHRS7B-5	chr17:20795543-20795745	ENSG00000233098.3
17	lnc-CDRT15L2-6	chr17:20728896-20731392	NONHSAT146837
18	lnc-DHRS7B-5	chr17:20795543-20795745	ENSG00000233098.3
19	lnc-DHRS7B-5	chr17:20841891-20841973	ENSG00000233098.3
20	lnc-DHRS7B-5	chr17:20841833-20841973	ENSG00000233098.3
21	lnc-DHRS7B-5	chr17:20824465-20824482	ENSG00000233098.3
22	lnc-CDRT15L2-6	chr17:20725246-20725730	NONHSAT146837
23	lnc-DHRS7B-8	chr17:20782018-20783423	ucscGeneNc_uc002gyj_2
24	lnc-DHRS7B-5	chr17:20790905-20791162	ENSG00000233098.3
25	lnc-CDRT15L2-6	chr17:20725611-20728107	FPKM1_group_12497_transcript_4
26	lnc-DHRS7B-5	chr17:20790905-20791162	ENSG00000233098.3
27	lnc-DHRS7B-5	chr17:20771860-20771998	ENSG00000233098.3
28	lnc-DHRS7B-5	chr17:20834906-20835084	ENSG00000233098.3
29	lnc-DHRS7B-5	chr17:20832744-20833359	ENSG00000233098.3
30	lnc-DHRS7B-9	chr17:20761000-20763371	NONHSAT146841
31	lnc-DHRS7B-5	chr17:20832744-20833046	XLOC_012139
32	lnc-DHRS7B-5	chr17:20771818-20771998	ENSG00000233098.3
33	lnc-DHRS7B-5	chr17:20824358-20824482	ENSG00000233098.3
34	lnc-CDRT15L2-1	chr17:20691384-20692897	ENSG00000264215.1
35	lnc-DHRS7B-5	chr17:20795543-20795745	ENSG00000233098.3
36	lnc-DHRS7B-5	chr17:20841406-20841835	ENSG00000233098.3
37	lnc-DHRS7B-5	chr17:20841864-20841973	ENSG00000233098.3
38	lnc-DHRS7B-5	chr17:20771810-20771998	ENSG00000233098.3
39	lnc-DHRS7B-5	chr17:20833069-20833280	ENSG00000233098.3
40	lnc-DHRS7B-6	chr17:20759259-20760630	ENSG00000266369.1
41	lnc-DHRS7B-5	chr17:20841879-20841973	ENSG00000233098.3
42	lnc-DHRS7B-5	chr17:20790905-20791162	ENSG00000233098.3
43	lnc-CCDC144NL-4	chr17:20692530-20692908	NONHSAT146835
44	lnc-DHRS7B-5	chr17:20834906-20835084	ENSG00000233098.3
45	lnc-DHRS7B-5	chr17:20841851-20841973	ENSG00000264660.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CCDC144NL	hsa-miR-425-5p	chr17:20766875-20766897

Variant related genes	Relation type
OLA1P2	TF binding region
CCDC144NL	TF binding region
ENSG00000227685	TF binding region
ENSG00000265099	TF binding region
SCDP1	TF binding region
ENSG00000264874	TF binding region
ENSG00000233098	TF binding region
RNASEH1P1	TF binding region
ABHD17AP6	TF binding region
RNU6-1178P	TF binding region
ENSG00000266369	TF binding region
HNRNPA1P19	TF binding region
ENSG00000236504	TF binding region
ENSG00000226521	TF binding region
ENSG00000264215	TF binding region
RNFT1P3	TF binding region
ENSG00000264662	TF binding region
ENSG00000266364	TF binding region
ENSG00000264660	TF binding region
OLA1P2	CpG island
CCDC144NL	CpG island
ENSG00000227685	CpG island
ENSG00000265099	CpG island
SCDP1	CpG island
ENSG00000264874	CpG island
ENSG00000233098	CpG island
RNASEH1P1	CpG island
ABHD17AP6	CpG island
RNU6-1178P	CpG island
ENSG00000266369	CpG island
HNRNPA1P19	CpG island
ENSG00000236504	CpG island
ENSG00000226521	CpG island
ENSG00000264215	CpG island
RNFT1P3	CpG island
ENSG00000264662	CpG island
ENSG00000266364	CpG island
ENSG00000264660	CpG island
ENSG00000265099	chromatin interactions
ENSG00000264660	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000233098	chromatin interactions
ENSG00000213671	chromatin interactions
ENSG00000244456	chromatin interactions
ENSG00000189050	chromatin interactions
ENSG00000266009	chromatin interactions
PIWIL4	miRNA target sites
ZNF420	miRNA target sites
SLITRK4	miRNA target sites

Extended variants
information (count: 10683 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:10683 , 50 per page) page: 1 2 3 4 5 6 7 ... 214

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531463195	chr17:20539971-20539972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529082439	chr17:20540003-20540004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144594904	chr17:20540023-20540024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35778613	chr17:20540055-20540056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559191178	chr17:20540060-20540061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533275678	chr17:20540077-20540078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186889734	chr17:20540100-20540101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192155406	chr17:20540101-20540102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530898641	chr17:20540126-20540127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549543885	chr17:20540139-20540140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148414239	chr17:20540142-20540143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535266732	chr17:20540143-20540144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547230527	chr17:20540199-20540200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571801808	chr17:20540208-20540209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557545083	chr17:20540269-20540270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116688711	chr17:20540401-20540402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567692913	chr17:20540408-20540409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557460112	chr17:20540470-20540471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576037239	chr17:20540482-20540483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376507748	chr17:20540502-20540503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145971026	chr17:20540503-20540504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532650503	chr17:20540515-20540516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376876665	chr17:20540544-20540545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555079786	chr17:20540563-20540564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573420912	chr17:20540565-20540566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540801704	chr17:20540626-20540627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139844209	chr17:20540658-20540659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527403364	chr17:20540678-20540679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184096666	chr17:20540690-20540691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541133883	chr17:20540696-20540697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563528983	chr17:20540789-20540790	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs141255215	chr17:20543614-20543615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560317984	chr17:20543634-20543635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572658460	chr17:20543675-20543676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546225767	chr17:20543793-20543794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376716547	chr17:20543804-20543805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372788173	chr17:20543829-20543830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535060064	chr17:20543836-20543837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564874863	chr17:20543840-20543841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191915668	chr17:20543844-20543845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550609250	chr17:20543871-20543872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562539142	chr17:20543892-20543893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183112823	chr17:20543894-20543895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187449861	chr17:20543973-20543974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150388789	chr17:20543991-20543992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534093657	chr17:20544000-20544001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552220059	chr17:20544002-20544003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371592587	chr17:20544004-20544005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570811873	chr17:20544015-20544016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376226698	chr17:20544016-20544017	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:157)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1742 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20535000-20540800	Weak transcription	Right Atrium	heart
2	chr17:20543600-20544200	Enhancers	Liver	Liver
3	chr17:20544000-20544400	Enhancers	Adipose Nuclei	Adipose
4	chr17:20549800-20550200	Enhancers	Primary B cells from peripheral blood	blood
5	chr17:20549800-20550600	Enhancers	Fetal Heart	heart
6	chr17:20550000-20550200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:20550000-20550200	Bivalent/Poised TSS	A549	lung
8	chr17:20550200-20552000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr17:20550400-20553000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:20551200-20552600	Enhancers	GM12878-XiMat	blood
11	chr17:20551600-20556400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr17:20551800-20555800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr17:20552000-20553400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr17:20552000-20555800	Enhancers	Primary B cells from peripheral blood	blood
15	chr17:20552600-20553000	Flanking Active TSS	GM12878-XiMat	blood
16	chr17:20553000-20553200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:20553000-20556000	Enhancers	GM12878-XiMat	blood
18	chr17:20553200-20554000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:20553400-20553800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr17:20553800-20554400	Enhancers	Primary hematopoietic stem cells	blood
21	chr17:20553800-20555600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr17:20554000-20555400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:20554000-20555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:20554000-20555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:20554200-20554600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr17:20554400-20554800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:20554800-20555400	Enhancers	Primary hematopoietic stem cells	blood
28	chr17:20555000-20555200	Enhancers	Placenta	Placenta
29	chr17:20556000-20557000	Weak transcription	GM12878-XiMat	blood
30	chr17:20556400-20557000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr17:20557000-20557200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr17:20557000-20557200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:20557000-20557200	Bivalent Enhancer	HSMMtube	muscle
34	chr17:20557000-20557400	Enhancers	GM12878-XiMat	blood
35	chr17:20557200-20557400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:20557200-20557600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:20557200-20557600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:20557200-20557600	Enhancers	HSMMtube	muscle
39	chr17:20557200-20558400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:20557400-20557600	Bivalent Enhancer	Placenta	Placenta
41	chr17:20557400-20557800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr17:20557600-20557800	Enhancers	Lung	lung
43	chr17:20557600-20558200	Enhancers	Placenta	Placenta
44	chr17:20558000-20558200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr17:20568000-20570200	Enhancers	Fetal Intestine Small	intestine
46	chr17:20568200-20568800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr17:20568200-20568800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:20568200-20570200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr17:20568200-20572000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr17:20568400-20568600	Enhancers	Fetal Intestine Large	intestine

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