Variant report

Variant	esv1829542
Chromosome Location	chr3:20009231-20384627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4510)
CpG islands
(count:2505)
Chromatin interactive
region (count:321)
LncRNA
region (count:21)
Mature miRNA
region (count: 1)
miRNA target
sites (count:27)

(count:4510 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20082402-20082577	K562	blood:	n/a	n/a
2	ARID3A	chr3:20382933-20383181	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:20096000-20096345	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:20364750-20365312	K562	blood:	n/a	n/a
5	ARID3A	chr3:20381827-20382195	K562	blood:	n/a	n/a
6	ARID3A	chr3:20368591-20368761	K562	blood:	n/a	n/a
7	ARID3A	chr3:20267278-20267600	K562	blood:	n/a	n/a
8	ARID3A	chr3:20079145-20079315	K562	blood:	n/a	n/a
9	ARID3A	chr3:20065245-20065546	K562	blood:	n/a	n/a
10	ARID3A	chr3:20057080-20057584	K562	blood:	n/a	n/a
11	ARID3A	chr3:20063992-20065045	K562	blood:	n/a	n/a
12	ARID3A	chr3:20227329-20228186	K562	blood:	n/a	n/a
13	ARID3A	chr3:20081499-20081651	K562	blood:	n/a	n/a
14	ARID3A	chr3:20362800-20363279	K562	blood:	n/a	n/a
15	ARID3A	chr3:20043611-20043819	K562	blood:	n/a	n/a
16	ARID3A	chr3:20080060-20080685	K562	blood:	n/a	n/a
17	ARID3A	chr3:20008657-20009619	K562	blood:	n/a	n/a
18	ARID3A	chr3:20371522-20371864	K562	blood:	n/a	n/a
19	ARID3A	chr3:20361861-20362463	HepG2	liver:	n/a	n/a
20	ARID3A	chr3:20227487-20228388	HepG2	liver:	n/a	n/a
21	ARID3A	chr3:20102456-20102678	HepG2	liver:	n/a	n/a
22	ARID3A	chr3:20056175-20056432	K562	blood:	n/a	n/a
23	ARID3A	chr3:20378141-20378394	K562	blood:	n/a	n/a
24	ARID3A	chr3:20083156-20083470	K562	blood:	n/a	n/a
25	ARID3A	chr3:20363620-20364094	K562	blood:	n/a	chr3:20363734-20363750
26	ARID3A	chr3:20366598-20367214	K562	blood:	n/a	n/a
27	ATF1	chr3:20145751-20146090	K562	blood:	n/a	n/a
28	ATF1	chr3:20366606-20366910	K562	blood:	n/a	n/a
29	ATF1	chr3:20226994-20228147	K562	blood:	n/a	n/a
30	ATF1	chr3:20064360-20065076	K562	blood:	n/a	n/a
31	ATF1	chr3:20364790-20365451	K562	blood:	n/a	n/a
32	ATF1	chr3:20057033-20057364	K562	blood:	n/a	n/a
33	ATF1	chr3:20346503-20346616	K562	blood:	n/a	n/a
34	ATF1	chr3:20092738-20093002	K562	blood:	n/a	n/a
35	ATF2	chr3:20145673-20146200	GM12878	blood:	n/a	n/a
36	ATF2	chr3:20145678-20146063	GM12878	blood:	n/a	n/a
37	ATF2	chr3:20167304-20167868	GM12878	blood:	n/a	n/a
38	ATF2	chr3:20227637-20228238	GM12878	blood:	n/a	n/a
39	ATF2	chr3:20082866-20083368	GM12878	blood:	n/a	n/a
40	ATF2	chr3:20081302-20081776	GM12878	blood:	n/a	n/a
41	ATF2	chr3:20288074-20288600	GM12878	blood:	n/a	n/a
42	ATF2	chr3:20167264-20167940	GM12878	blood:	n/a	n/a
43	ATF2	chr3:20227207-20228211	GM12878	blood:	n/a	n/a
44	ATF2	chr3:20288131-20288515	GM12878	blood:	n/a	n/a
45	ATF3	chr3:20227585-20227975	K562	blood:	n/a	n/a
46	ATF3	chr3:20092643-20092877	K562	blood:	n/a	chr3:20092813-20092828
47	ATF3	chr3:20227535-20227966	K562	blood:	n/a	n/a
48	ATF3	chr3:20096028-20096490	A549	lung:	n/a	n/a
49	ATF3	chr3:20227505-20227918	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF3	chr3:20227605-20227903	HepG2	liver:	n/a	n/a

(count:2505 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20227670-20227720	HCT-116	colon:	n/a
2	chr3:20082543-20082593	A549	lung:	n/a
3	chr3:20081585-20081635	HRE	kidney:	n/a
4	chr3:20226964-20227014	A549	lung:	n/a
5	chr3:20227670-20227720	HCT-116	colon:	n/a
6	chr3:20082543-20082593	A549	lung:	n/a
7	chr3:20081585-20081635	HRE	kidney:	n/a
8	chr3:20226964-20227014	A549	lung:	n/a
9	chr3:20227516-20227566	HEK293	kidney:	embryo
10	chr3:20227925-20227975	HEEpiC	esophagus:	n/a
11	chr3:20227516-20227566	SK-N-SH_RA	brain:	n/a
12	chr3:20081516-20081566	HCM	heart:	n/a
13	chr3:20081367-20081417	GM19239	blood:	n/a
14	chr3:20049638-20049688	HPAEpiC	pulmonary alveolar:	n/a
15	chr3:20053940-20053990	HCT-116	colon:	n/a
16	chr3:20223923-20223973	ECC-1	luminal epithelium:	n/a
17	chr3:20082916-20082966	HRCEpiC	kidney:	n/a
18	chr3:20049638-20049688	SK-N-MC	brain:	n/a
19	chr3:20081585-20081635	HepG2	liver:	n/a
20	chr3:20227516-20227566	AoSMC	blood vessel:	n/a
21	chr3:20227670-20227720	PFSK-1	brain:	n/a
22	chr3:20227059-20227109	MCF10A-Er-Src	breast:	n/a
23	chr3:20195067-20195117	PANC-1	pancreas:	n/a
24	chr3:20081161-20081211	NT2-D1	testis:	n/a
25	chr3:20227516-20227566	GM19239	blood:	n/a
26	chr3:20227516-20227566	HRE	kidney:	n/a
27	chr3:20078165-20078215	SK-N-MC	brain:	n/a
28	chr3:20227516-20227566	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:20082916-20082966	U87	brain:	n/a
30	chr3:20078165-20078215	HUVEC	blood vessel:	n/a
31	chr3:20227397-20227447	Caco-2	colon:	n/a
32	chr3:20085136-20085186	H1-hESC	embryonic stem cell:	embryo
33	chr3:20227663-20227713	ProgFib	skin:	n/a
34	chr3:20223923-20223973	PANC-1	pancreas:	n/a
35	chr3:20195067-20195117	GM12891	blood:	n/a
36	chr3:20231061-20231111	Jurkat	blood:	n/a
37	chr3:20227670-20227720	HNPCEpiC	eye:	n/a
38	chr3:20053940-20053990	Hepatocyte	liver:	n/a
39	chr3:20049638-20049688	Hela-S3	cervix:	n/a
40	chr3:20081518-20081568	BE2_C	brain:	n/a
41	chr3:20195067-20195117	HMEC	breast:	n/a
42	chr3:20081516-20081566	AG10803	skin:	n/a
43	chr3:20227516-20227566	NH-A	brain:	n/a
44	chr3:20227925-20227975	NHBE	bronchial:	n/a
45	chr3:20227809-20227859	CMK	blood:	n/a
46	chr3:20081516-20081566	PrEC	prostate:	n/a
47	chr3:20049638-20049688	AG04449	skin:	fetal
48	chr3:20081516-20081566	ECC-1	luminal epithelium:	n/a
49	chr3:20082425-20082475	HAEpiC	amniotic membrane:	n/a
50	chr3:20078165-20078215	K562	blood:	n/a

(count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr3:20240283..20242142-chr3:20254913..20256935,2	K562	blood:
2	chr3:20381603..20382455-chr3:22159036..22159808,2	K562	blood:
3	chr3:20059399..20061509-chr3:20063864..20066520,2	K562	blood:
4	chr3:20231614..20234175-chr3:20236441..20238488,2	K562	blood:
5	chr3:20185698..20188649-chr3:20188952..20191423,4	K562	blood:
6	chr3:20219250..20222131-chr3:20228592..20230370,2	K562	blood:
7	chr3:20116658..20118757-chr3:20120468..20122356,2	K562	blood:
8	chr3:20096664..20098215-chr3:20134683..20136839,2	K562	blood:
9	chr3:19990601..19993160-chr3:20063251..20065483,2	K562	blood:
10	chr3:20138975..20141320-chr3:20146365..20149046,3	K562	blood:
11	chr3:20108340..20110457-chr3:20115203..20117134,2	K562	blood:
12	chr3:20211282..20213997-chr3:20225429..20228054,3	MCF-7	breast:
13	chr3:20035142..20037256-chr3:20064733..20066737,2	K562	blood:
14	chr3:20083177..20086049-chr3:20086105..20087867,2	MCF-7	breast:
15	chr3:20191414..20193219-chr3:20194880..20197331,2	K562	blood:
16	chr3:20370553..20372483-chr3:20373507..20376475,2	K562	blood:
17	chr3:20144778..20146752-chr3:20150014..20154937,5	K562	blood:
18	chr3:20120814..20122685-chr3:20125426..20127152,2	K562	blood:
19	chr3:20079279..20082964-chr3:20226299..20229620,6	K562	blood:
20	chr3:20368039..20370603-chr3:20372170..20374733,2	K562	blood:
21	chr3:20363426..20365605-chr3:20367558..20369154,2	K562	blood:
22	chr3:20116658..20118757-chr3:20120468..20122356,2	K562	blood:
23	chr3:19988644..19989202-chr3:20081357..20082279,2	MCF-7	breast:
24	chr3:20255206..20257186-chr3:20272224..20273896,2	K562	blood:
25	chr3:20240283..20242142-chr3:20254913..20256935,2	K562	blood:
26	chr3:20370553..20372483-chr3:20373507..20376475,2	K562	blood:
27	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
28	chr3:20208211..20212087-chr3:20224920..20227676,5	K562	blood:
29	chr3:20079693..20081472-chr3:20203928..20206383,2	K562	blood:
30	chr3:19986921..19992254-chr3:20078952..20084327,16	K562	blood:
31	chr3:20154687..20157429-chr3:20160845..20162920,2	K562	blood:
32	chr3:19991248..19993079-chr3:20225987..20227552,2	MCF-7	breast:
33	chr3:20195965..20199003-chr3:20200424..20204373,5	K562	blood:
34	chr3:20275707..20278612-chr3:20280261..20282928,2	K562	blood:
35	chr3:20092001..20094712-chr3:20096791..20098373,2	K562	blood:
36	chr3:20046912..20049769-chr3:20052524..20055370,2	K562	blood:
37	chr3:20120814..20122685-chr3:20125426..20127152,2	K562	blood:
38	chr3:20210669..20212300-chr3:20217697..20220649,2	K562	blood:
39	chr3:19988765..19989271-chr3:20079780..20080698,2	NB4	blood:
40	chr3:20344022..20346742-chr3:20354498..20357355,2	K562	blood:
41	chr1:167582674..167583549-chr3:20205708..20206218,2	MCF-7	breast:
42	chr3:19988069..19990118-chr3:20020900..20023827,2	MCF-7	breast:
43	chr3:20096569..20098445-chr3:20104189..20106827,2	MCF-7	breast:
44	chr3:20154687..20157429-chr3:20160845..20162920,2	K562	blood:
45	chr3:20213813..20216501-chr3:20227432..20229116,2	MCF-7	breast:
46	chr3:20320265..20323041-chr3:20324824..20326695,2	K562	blood:
47	chr3:20161409..20163112-chr3:20165671..20167276,2	MCF-7	breast:
48	chr3:20226448..20228980-chr3:20231144..20234755,4	MCF-7	breast:
49	chr3:20027470..20029591-chr3:20033923..20036338,3	K562	blood:
50	chr3:20199507..20201505-chr3:20225585..20228159,2	MCF-7	breast:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-1	chr3:20215778-20216017	ENSG00000237485.1
2	lnc-EFHB-4	chr3:20042467-20043588	NONHSAT088608
3	lnc-PP2D1-2	chr3:20212535-20212759	NONHSAT088614
4	lnc-KAT2B-6	chr3:20286533-20287951	NONHSAT088619
5	lnc-EFHB-4	chr3:20025686-20025788	NR_027694
6	lnc-KAT2B-1	chr3:20218709-20218742	ENSG00000237485.1
7	lnc-EFHB-3	chr3:20049344-20049739	NONHSAT088609
8	lnc-KAT2B-5	chr3:20210846-20210905	l_2328_chr3:20202875-20210905_testes
9	lnc-KAT2B-1	chr3:20227467-20227919	ENSG00000237485.1
10	lnc-EFHB-4	chr3:20053542-20053749	NONHSAT088608
11	lnc-PP2D1-2	chr3:20211553-20212307	NONHSAT088614
12	lnc-KAT2B-2	chr3:20383960-20385528	XLOC_002595
13	lnc-KAT2B-1	chr3:20215736-20216017	ENSG00000237485.1
14	lnc-EFHB-4	chr3:20053542-20053765	NR_027694
15	lnc-EFHB-4	chr3:20042522-20043588	NR_027694
16	lnc-KAT2B-1	chr3:20227726-20230848	NONHSAT088617
17	lnc-KAT2B-5	chr3:20202876-20203154	l_2328_chr3:20202875-20210905_testes
18	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
19	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
20	lnc-EFHB-4	chr3:20021453-20021666	NR_027694
21	lnc-KAT2B-1	chr3:20227467-20227607	ENSG00000237485.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3135a	chr3:20179066-20179087	MIMAT0015001

(count:27 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RAB5A	hsa-miR-130a-3p	chr3:20026477-20026484
2	RAB5A	hsa-miR-33a-5p	chr3:20026571-20026591
3	RAB5A	hsa-miR-101-3p	chr3:20026199-20026206
4	KAT2B	hsa-miR-93-5p	chr3:20194121-20194144
5	KAT2B	hsa-miR-106b-5p	chr3:20195703-20195723
6	RAB5A	hsa-miR-130b-3p	chr3:20026129-20026150
7	KAT2B	hsa-miR-25-3p	chr3:20195765-20195772
8	KAT2B	hsa-miR-106b-5p	chr3:20194123-20194144
9	KAT2B	hsa-miR-181a-5p	chr3:20194367-20194390
10	RAB5A	hsa-miR-101-3p	chr3:20026272-20026293
11	RAB5A	hsa-miR-18a-5p	chr3:20025965-20025987
12	RAB5A	hsa-miR-130a-3p	chr3:20026128-20026150
13	KAT2B	hsa-miR-181b-5p	chr3:20194367-20194390
14	KAT2B	hsa-miR-93-5p	chr3:20194137-20194143
15	KAT2B	hsa-miR-32-5p	chr3:20195750-20195772
16	RAB5A	hsa-miR-130a-3p	chr3:20026463-20026484
17	KAT2B	hsa-miR-92a-3p	chr3:20195765-20195772
18	RAB5A	hsa-miR-130b-3p	chr3:20026461-20026484
19	KAT2B	hsa-miR-92a-3p	chr3:20195750-20195772
20	KAT2B	hsa-miR-93-5p	chr3:20195701-20195723
21	KAT2B	hsa-miR-32-5p	chr3:20195765-20195772
22	KAT2B	hsa-miR-106b-5p	chr3:20194137-20194143
23	RAB5A	hsa-miR-130b-3p	chr3:20026477-20026484
24	KAT2B	hsa-miR-25-3p	chr3:20195750-20195772
25	RAB5A	hsa-miR-101-3p	chr3:20025772-20025793
26	RAB5A	hsa-miR-33a-5p	chr3:20026130-20026148
27	RAB5A	hsa-miR-101-3p	chr3:20026185-20026206

Variant related genes	Relation type
KAT2B	TF binding region
ENSG00000229468	TF binding region
RNU4-85P	TF binding region
MIR3135A	TF binding region
RAB5A	TF binding region
RNU6-822P	TF binding region
ENSG00000231304	TF binding region
PP2D1	TF binding region
RNY4P22	TF binding region
ENSG00000230697	TF binding region
SGOL1-AS1	TF binding region
SGOL1	TF binding region
KAT2B	CpG island
ENSG00000229468	CpG island
RNU4-85P	CpG island
MIR3135A	CpG island
RAB5A	CpG island
RNU6-822P	CpG island
ENSG00000231304	CpG island
PP2D1	CpG island
RNY4P22	CpG island
ENSG00000230697	CpG island
SGOL1-AS1	CpG island
SGOL1	CpG island
ENSG00000230697	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000183977	chromatin interactions
ENSG00000163576	chromatin interactions
ENSG00000234779	chromatin interactions
ENSG00000214013	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000103978	chromatin interactions
ENSG00000237485	chromatin interactions
ENSG00000266745	chromatin interactions
ENSG00000144566	chromatin interactions
ENSG00000235194	chromatin interactions
ENSG00000229468	chromatin interactions
ENSG00000201545	chromatin interactions
ENSG00000252442	chromatin interactions
ENSG00000126226	chromatin interactions

Extended variants
information (count: 14105 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:14105 , 50 per page) page: 1 2 3 4 5 6 7 ... 283

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7634934	chr3:20009231-20009232	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186276523	chr3:20009248-20009249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115173410	chr3:20009258-20009259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189384097	chr3:20009266-20009267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2127956	chr3:20009298-20009299	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs181412790	chr3:20009367-20009368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527317318	chr3:20009379-20009380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548479735	chr3:20009424-20009425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570533713	chr3:20009428-20009429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140046103	chr3:20009432-20009433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34002099	chr3:20009473-20009474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561207749	chr3:20009483-20009484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186610824	chr3:20009503-20009504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376991115	chr3:20009514-20009515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190730752	chr3:20009573-20009574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143602822	chr3:20009582-20009583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73032495	chr3:20009590-20009591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529727088	chr3:20009595-20009596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142509602	chr3:20009604-20009605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547612400	chr3:20009622-20009623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566060179	chr3:20009653-20009654	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62241293	chr3:20009689-20009690	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs569511594	chr3:20009748-20009749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146771766	chr3:20009773-20009774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17006433	chr3:20009802-20009803	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537220645	chr3:20009825-20009826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374077773	chr3:20009827-20009828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558742115	chr3:20009849-20009850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183139369	chr3:20009906-20009907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75072417	chr3:20009915-20009916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140426144	chr3:20009920-20009921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7615145	chr3:20010037-20010038	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs56029370	chr3:20010095-20010096	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561120044	chr3:20010173-20010174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62241295	chr3:20010307-20010308	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145020334	chr3:20010331-20010332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375447781	chr3:20010338-20010339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557919574	chr3:20010345-20010346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532236750	chr3:20010360-20010361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547857821	chr3:20010366-20010367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566048921	chr3:20010374-20010375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9828518	chr3:20010406-20010407	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548198760	chr3:20010413-20010414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554437094	chr3:20010424-20010425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367556695	chr3:20010428-20010429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143103680	chr3:20010460-20010461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537333612	chr3:20010471-20010472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558850084	chr3:20010507-20010508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202101955	chr3:20010522-20010523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112299969	chr3:20010523-20010524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	19363497	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:6129 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19989800-20018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:19990000-20016200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:19990800-20017000	Weak transcription	Fetal Kidney	kidney
4	chr3:19991400-20017000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:19992200-20012200	Weak transcription	Stomach Mucosa	stomach
6	chr3:19993600-20015600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:19993600-20023600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:19993800-20016200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:19993800-20023800	Weak transcription	Small Intestine	intestine
10	chr3:19994000-20015800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:19994000-20017400	Weak transcription	HSMMtube	muscle
12	chr3:19994600-20011600	Weak transcription	Brain Substantia Nigra	brain
13	chr3:19994600-20013800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:19995600-20017000	Weak transcription	Brain Germinal Matrix	brain
15	chr3:19995800-20016800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:19995800-20021800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:19996400-20017200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:19996400-20021000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:19996600-20015600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:19996600-20016800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:19997200-20013200	Weak transcription	HMEC	breast
22	chr3:19997200-20017000	Weak transcription	HUVEC	blood vessel
23	chr3:19997600-20011800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:19997600-20015200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:19997800-20013200	Weak transcription	NHLF	lung
26	chr3:19997800-20015400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:19997800-20015600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:19997800-20016200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr3:19997800-20017000	Weak transcription	Brain Anterior Caudate	brain
30	chr3:19997800-20023200	Weak transcription	Spleen	Spleen
31	chr3:19998000-20011800	Weak transcription	Gastric	stomach
32	chr3:19998000-20017000	Weak transcription	HepG2	liver
33	chr3:19998200-20013200	Weak transcription	Osteobl	bone
34	chr3:19998400-20013200	Weak transcription	NHDF-Ad	bronchial
35	chr3:19998800-20011800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:19998800-20013600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:19999000-20011800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:19999000-20013400	Weak transcription	NH-A	brain
39	chr3:19999200-20011800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:19999600-20027600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:20000400-20011800	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:20000600-20011800	Weak transcription	GM12878-XiMat	blood
43	chr3:20000800-20015600	Weak transcription	Fetal Lung	lung
44	chr3:20002000-20011600	Weak transcription	Ovary	ovary
45	chr3:20002200-20015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:20002400-20013200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:20002600-20011800	Weak transcription	Brain Angular Gyrus	brain
48	chr3:20003600-20011600	Weak transcription	Fetal Thymus	thymus
49	chr3:20003800-20011600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:20003800-20013000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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