Variant report

Variant	nsv882415
Chromosome Location	chr5:98134186-98312447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2619)
CpG islands
(count:976)
Chromatin interactive
region (count:175)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:18)

(count:2619 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:98241433-98242620	K562	blood:	n/a	n/a
2	ARID3A	chr5:98244520-98244612	K562	blood:	n/a	n/a
3	ARID3A	chr5:98299396-98299868	K562	blood:	n/a	n/a
4	ARID3A	chr5:98290120-98290843	K562	blood:	n/a	n/a
5	ARID3A	chr5:98264908-98265939	K562	blood:	n/a	n/a
6	ARID3A	chr5:98295593-98295999	K562	blood:	n/a	n/a
7	ARID3A	chr5:98264508-98264681	K562	blood:	n/a	n/a
8	ARID3A	chr5:98274132-98274465	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:98233190-98233450	K562	blood:	n/a	n/a
10	ARID3A	chr5:98266535-98267028	K562	blood:	n/a	n/a
11	ARID3A	chr5:98297759-98298007	K562	blood:	n/a	n/a
12	ARID3A	chr5:98264539-98266038	HepG2	liver:	n/a	n/a
13	ATF1	chr5:98264410-98265650	K562	blood:	n/a	chr5:98264661-98264675
14	ATF1	chr5:98281844-98282249	K562	blood:	n/a	n/a
15	ATF1	chr5:98266148-98266224	K562	blood:	n/a	n/a
16	ATF1	chr5:98299410-98299943	K562	blood:	n/a	n/a
17	ATF2	chr5:98149388-98149909	GM12878	blood:	n/a	n/a
18	ATF2	chr5:98268996-98269649	GM12878	blood:	n/a	n/a
19	ATF2	chr5:98264566-98264936	H1-hESC	embryonic stem cell:	n/a	chr5:98264661-98264675
20	ATF2	chr5:98268935-98269701	GM12878	blood:	n/a	n/a
21	ATF2	chr5:98149395-98149898	GM12878	blood:	n/a	n/a
22	ATF2	chr5:98262812-98263803	GM12878	blood:	n/a	chr5:98262913-98262920
23	ATF2	chr5:98264751-98265755	GM12878	blood:	n/a	n/a
24	ATF2	chr5:98264198-98265765	GM12878	blood:	n/a	chr5:98264661-98264675
25	ATF3	chr5:98264757-98264991	K562	blood:	n/a	chr5:98264815-98264824
26	ATF3	chr5:98265063-98265645	K562	blood:	n/a	n/a
27	ATF3	chr5:98299354-98299673	K562	blood:	n/a	n/a
28	ATF3	chr5:98264740-98265103	A549	lung:	n/a	chr5:98264815-98264824
29	BACH1	chr5:98266640-98266971	K562	blood:	n/a	n/a
30	BACH1	chr5:98289854-98289864	K562	blood:	n/a	n/a
31	BACH1	chr5:98264397-98265295	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr5:98261371-98261719	K562	blood:	n/a	n/a
33	BACH1	chr5:98287251-98287327	K562	blood:	n/a	n/a
34	BACH1	chr5:98299497-98299792	K562	blood:	n/a	n/a
35	BACH1	chr5:98264418-98264580	K562	blood:	n/a	n/a
36	BACH1	chr5:98261416-98261450	H1-hESC	embryonic stem cell:	n/a	n/a
37	BATF	chr5:98265083-98265535	GM12878	blood:	n/a	n/a
38	BATF	chr5:98149490-98149851	GM12878	blood:	n/a	chr5:98149571-98149580
39	BCL11A	chr5:98265136-98265540	GM12878	blood:	n/a	chr5:98265227-98265240
40	BCL11A	chr5:98265087-98265512	GM12878	blood:	n/a	chr5:98265227-98265240
41	BCL11A	chr5:98298812-98299061	H1-hESC	embryonic stem cell:	n/a	n/a
42	BCL11A	chr5:98149502-98149731	GM12878	blood:	n/a	n/a
43	BCL3	chr5:98264165-98264714	A549	lung:	n/a	chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408
44	BCL3	chr5:98264764-98265777	A549	lung:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
45	BCL3	chr5:98264142-98265493	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827
46	BCL3	chr5:98264737-98265602	A549	lung:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
47	BCL3	chr5:98264206-98264740	A549	lung:	n/a	chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408
48	BCLAF1	chr5:98262860-98263852	GM12878	blood:	n/a	n/a
49	BCLAF1	chr5:98262785-98263739	GM12878	blood:	n/a	n/a
50	BCLAF1	chr5:98264244-98265731	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:98264478-98264528	LNCaP	prostate:	n/a
2	chr5:98175760-98175810	Hepatocyte	liver:	n/a
3	chr5:98260405-98260455	HUVEC	blood vessel:	n/a
4	chr5:98175255-98175305	AoSMC	blood vessel:	n/a
5	chr5:98175760-98175810	SK-N-SH_RA	brain:	n/a
6	chr5:98191055-98191105	HL-60	blood:	n/a
7	chr5:98175255-98175305	GM12892	blood:	n/a
8	chr5:98260405-98260455	HRCEpiC	kidney:	n/a
9	chr5:98175367-98175417	HCF	heart:	n/a
10	chr5:98263747-98263797	HAEpiC	amniotic membrane:	n/a
11	chr5:98265241-98265291	NH-A	brain:	n/a
12	chr5:98299078-98299128	RPTEC	kidney:	n/a
13	chr5:98175760-98175810	HRE	kidney:	n/a
14	chr5:98269394-98269444	HUVEC	blood vessel:	n/a
15	chr5:98265264-98265314	NB4	blood:	n/a
16	chr5:98264283-98264333	IMR90	lung:	fetal
17	chr5:98175760-98175810	PFSK-1	brain:	n/a
18	chr5:98175367-98175417	H1-hESC	embryonic stem cell:	embryo
19	chr5:98260405-98260455	IMR90	lung:	fetal
20	chr5:98175760-98175810	BE2_C	brain:	n/a
21	chr5:98265264-98265314	K562	blood:	n/a
22	chr5:98264478-98264528	HMEC	breast:	n/a
23	chr5:98175255-98175305	HL-60	blood:	n/a
24	chr5:98247404-98247454	HCT-116	colon:	n/a
25	chr5:98265264-98265314	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:98263013-98263063	HepG2	liver:	n/a
27	chr5:98191055-98191105	HCM	heart:	n/a
28	chr5:98175367-98175417	AoSMC	blood vessel:	n/a
29	chr5:98265241-98265291	NT2-D1	testis:	n/a
30	chr5:98263747-98263797	AoSMC	blood vessel:	n/a
31	chr5:98265241-98265291	MCF10A-Er-Src	breast:	n/a
32	chr5:98269394-98269444	HAEpiC	amniotic membrane:	n/a
33	chr5:98175367-98175417	NB4	blood:	n/a
34	chr5:98175760-98175810	HAEpiC	amniotic membrane:	n/a
35	chr5:98175760-98175810	MCF-7	breast:	n/a
36	chr5:98175255-98175305	ovcar-3	ovarian:	n/a
37	chr5:98265264-98265314	HCPEpiC	choroid plexus:	n/a
38	chr5:98247404-98247454	AG09309	skin:	n/a
39	chr5:98175760-98175810	GM06990	blood:	n/a
40	chr5:98175367-98175417	HL-60	blood:	n/a
41	chr5:98247404-98247454	NHDF-neo	bronchial:	n/a
42	chr5:98175367-98175417	HEEpiC	esophagus:	n/a
43	chr5:98265264-98265314	GM12892	blood:	n/a
44	chr5:98263417-98263467	AG10803	skin:	n/a
45	chr5:98247404-98247454	PFSK-1	brain:	n/a
46	chr5:98175760-98175810	AG09319	gingival:	n/a
47	chr5:98265241-98265291	HUVEC	blood vessel:	n/a
48	chr5:98175760-98175810	NHBE	bronchial:	n/a
49	chr5:98175255-98175305	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:98265264-98265314	HAEpiC	amniotic membrane:	n/a

(count:175 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:98262886..98265417-chr5:98293369..98295654,3	K562	blood:
2	chr5:98232275..98236277-chr5:98262376..98265516,4	K562	blood:
3	chr5:98266316..98268754-chr5:98386981..98389928,2	MCF-7	breast:
4	chr5:98290036..98292001-chr5:98294235..98296369,4	K562	blood:
5	chr5:98250278..98252358-chr5:98294298..98296152,2	K562	blood:
6	chr17:46985561..46986168-chr5:98264688..98265508,2	Hela-S3	cervix:
7	chr5:98272097..98275128-chr5:98275593..98280478,6	MCF-7	breast:
8	chr5:98269604..98273895-chr5:98275576..98277950,6	K562	blood:
9	chr5:98245669..98247917-chr5:98393719..98395372,2	K562	blood:
10	chr5:90674940..90677586-chr5:98263946..98266440,2	K562	blood:
11	chr5:98263888..98266845-chr5:98284652..98287540,3	K562	blood:
12	chr2:24306551..24307331-chr5:98264376..98265283,2	Hela-S3	cervix:
13	chr5:98194266..98195953-chr5:98224868..98226763,2	MCF-7	breast:
14	chr5:98249134..98251200-chr5:98262400..98265310,3	K562	blood:
15	chr13:107219962..107220504-chr5:98264951..98265593,2	Hela-S3	cervix:
16	chr5:98265288..98267597-chr5:98314726..98317352,2	K562	blood:
17	chr5:98226144..98228062-chr5:98229771..98233022,3	MCF-7	breast:
18	chr5:98240910..98242219-chr5:98367905..98368817,11	MCF-7	breast:
19	chr5:98232177..98234345-chr5:98238725..98241522,2	K562	blood:
20	chr2:140667169..140668129-chr5:98250906..98251510,2	MCF-7	breast:
21	chr5:98264586..98265128-chr6:109416336..109416882,2	Hela-S3	cervix:
22	chr5:98276177..98277799-chr5:98286832..98289590,2	MCF-7	breast:
23	chr5:98297682..98299622-chr5:98302405..98305273,3	K562	blood:
24	chr5:98269258..98271296-chr5:98288726..98290603,2	K562	blood:
25	chr1:154946397..154946999-chr5:98264263..98264810,2	Hela-S3	cervix:
26	chr5:98286475..98288503-chr5:98329447..98332320,2	MCF-7	breast:
27	chr5:98257599..98259877-chr5:98263481..98265627,3	MCF-7	breast:
28	chr5:98275105..98276792-chr5:98280634..98283981,3	K562	blood:
29	chr5:98232177..98234345-chr5:98238725..98241522,2	K562	blood:
30	chr5:90677652..90679304-chr5:98264702..98267275,2	K562	blood:
31	chr5:98220770..98224200-chr5:98262773..98266161,4	K562	blood:
32	chr5:98235646..98238054-chr5:98241311..98244190,2	K562	blood:
33	chr5:98225680..98228105-chr5:98234782..98236806,2	K562	blood:
34	chr5:98220233..98222230-chr5:98242414..98244747,2	K562	blood:
35	chr5:98229416..98231835-chr5:98235299..98236905,2	K562	blood:
36	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:
37	chr5:98261995..98270397-chr5:98280624..98292060,15	K562	blood:
38	chr5:98250278..98252358-chr5:98294298..98296152,2	K562	blood:
39	chr5:98144623..98147225-chr5:98149000..98150777,2	K562	blood:
40	chr5:98266485..98269344-chr6:26198000..26199535,2	MCF-7	breast:
41	chr5:98216367..98220560-chr5:98263954..98266429,4	MCF-7	breast:
42	chr5:98225243..98227991-chr5:98235612..98237976,2	MCF-7	breast:
43	chr5:98255571..98257201-chr5:98257380..98259074,2	K562	blood:
44	chr14:81687040..81687872-chr5:98262679..98263179,2	Hela-S3	cervix:
45	chr5:98211232..98213424-chr5:98216895..98219152,2	K562	blood:
46	chr5:98144623..98147225-chr5:98149000..98150777,2	K562	blood:
47	chr5:98237133..98240076-chr5:98262664..98264455,2	K562	blood:
48	chr5:98220809..98224769-chr5:98261722..98266325,5	K562	blood:
49	chr5:98226144..98228062-chr5:98229771..98233022,3	MCF-7	breast:
50	chr5:98247883..98250755-chr5:98381007..98383241,2	K562	blood:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-1	chr5:98270246-98271477	NONHSAT102972
2	lnc-CHD1-3	chr5:98292194-98292613	expReg_chr5_5532_-
3	lnc-RGMB-1	chr5:98265801-98266772	NONHSAT102970
4	lnc-RGMB-1	chr5:98264861-98270036	NONHSAT102968
5	lnc-RGMB-1	chr5:98264884-98265015	NONHSAT102970
6	lnc-RGMB-1	chr5:98265815-98265924	NONHSAT102972
7	lnc-RGMB-1	chr5:98297147-98297248	NONHSAT102971
8	lnc-RGMB-1	chr5:98266027-98266064	NONHSAT102972
9	lnc-RGMB-5	chr5:98185053-98187266	NONHSAT102960
10	lnc-RGMB-1	chr5:98264925-98265427	NONHSAT102971
11	lnc-CHD1-4	chr5:98136226-98136688	refGeneNc_4273_NR_033932
12	lnc-RIOK2-10	chr5:98233005-98233214	expReg_chr5_5485_-
13	lnc-RGMB-1	chr5:98265713-98265745	NONHSAT102972
14	lnc-RIOK2-7	chr5:98206391-98206420	NONHSAT102962
15	lnc-RGMB-1	chr5:98264838-98266713	NONHSAT102967
16	lnc-RGMB-4	chr5:98169086-98169415	NONHSAT102959
17	lnc-RIOK2-7	chr5:98205183-98205586	NONHSAT102962
18	lnc-RGMB-1	chr5:98264875-98265015	ENSG00000248489.1
19	lnc-CHD1-4	chr5:98133223-98134788	refGeneNc_4273_NR_033932

No data

(count:18 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CHD1	hsa-miR-30b-5p	chr5:98191825-98191846
2	CHD1	hsa-miR-30c-5p	chr5:98191728-98191750
3	CHD1	hsa-miR-30b-5p	chr5:98191321-98191343
4	CHD1	hsa-miR-30a-5p	chr5:98191614-98191635
5	CHD1	hsa-miR-30c-5p	chr5:98191831-98191825
6	CHD1	hsa-miR-30b-5p	chr5:98191620-98191613
7	CHD1	hsa-miR-30c-5p	chr5:98191825-98191848
8	CHD1	hsa-miR-30b-5p	chr5:98191728-98191749
9	CHD1	hsa-miR-30c-5p	chr5:98191321-98191344
10	CHD1	hsa-miR-30c-5p	chr5:98191614-98191636
11	CHD1	hsa-miR-30b-5p	chr5:98191614-98191635
12	CHD1	hsa-miR-30a-5p	chr5:98191825-98191846
13	CHD1	hsa-miR-30b-5p	chr5:98191831-98191825
14	CHD1	hsa-miR-30a-5p	chr5:98191728-98191750
15	CHD1	hsa-miR-30a-5p	chr5:98191831-98191825
16	CHD1	hsa-miR-30a-5p	chr5:98191321-98191342
17	CHD1	hsa-miR-30a-5p	chr5:98191620-98191613
18	CHD1	hsa-miR-30c-5p	chr5:98191620-98191613

Variant related genes	Relation type
ENSG00000248489	TF binding region
CHD1	TF binding region
RNU6-402P	TF binding region
CSNK1A1P3	TF binding region
ENSG00000241597	TF binding region
ENSG00000200351	TF binding region
ENSG00000248489	CpG island
CHD1	CpG island
RNU6-402P	CpG island
CSNK1A1P3	CpG island
ENSG00000241597	CpG island
ENSG00000200351	CpG island
ENSG00000148672	chromatin interactions
ENSG00000164307	chromatin interactions
ENSG00000115539	chromatin interactions
ENSG00000246763	chromatin interactions
ENSG00000122376	chromatin interactions
ENSG00000177854	chromatin interactions
ENSG00000134884	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000103769	chromatin interactions
ENSG00000172534	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000113369	chromatin interactions
ENSG00000222610	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000273015	chromatin interactions
ENSG00000159202	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000123144	chromatin interactions
ENSG00000071243	chromatin interactions
ENSG00000248489	chromatin interactions
ENSG00000183137	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000174136	chromatin interactions
ENSG00000153922	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000115129	chromatin interactions
ENSG00000200351	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000241597	chromatin interactions
ENSG00000243335	chromatin interactions
ENSG00000172046	chromatin interactions
ENSG00000151881	chromatin interactions

Extended variants
information (count: 6354 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:6354 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2662255	chr5:98134186-98134187	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577777556	chr5:98134206-98134207	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs188488887	chr5:98134232-98134233	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs537026979	chr5:98134273-98134274	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs376896980	chr5:98134331-98134332	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs533803496	chr5:98134362-98134363	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs556714563	chr5:98134404-98134405	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs570491268	chr5:98134443-98134444	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs535013763	chr5:98134450-98134451	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs181750445	chr5:98134484-98134485	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs143514691	chr5:98134505-98134506	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs146752242	chr5:98134586-98134587	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs553587394	chr5:98134605-98134606	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs528769861	chr5:98134610-98134611	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs186051280	chr5:98134617-98134618	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs140364172	chr5:98134715-98134716	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs73773578	chr5:98134717-98134718	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149930573	chr5:98134777-98134778	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs569360734	chr5:98134782-98134783	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs536773443	chr5:98134789-98134790	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs548601311	chr5:98134799-98134800	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs75064462	chr5:98134834-98134835	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs189595177	chr5:98134864-98134865	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181844091	chr5:98134877-98134878	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs73151480	chr5:98134907-98134908	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10051431	chr5:98134958-98134959	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556764304	chr5:98134965-98134966	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs34875024	chr5:98134973-98134974	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144976832	chr5:98134992-98134993	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs2859485	chr5:98135030-98135031	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs2545728	chr5:98135084-98135085	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs2545688	chr5:98135126-98135127	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs187257919	chr5:98135216-98135217	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs149167551	chr5:98135256-98135257	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs143272106	chr5:98135281-98135282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75937874	chr5:98135295-98135296	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139065944	chr5:98135312-98135313	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs2545727	chr5:98135462-98135463	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs115024546	chr5:98135480-98135481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113514979	chr5:98135495-98135496	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190830771	chr5:98135496-98135497	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368747122	chr5:98135535-98135536	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552322694	chr5:98135540-98135541	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs571496614	chr5:98135552-98135553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs538593550	chr5:98135571-98135572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540906304	chr5:98135651-98135652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs370814723	chr5:98135671-98135672	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs556727184	chr5:98135705-98135706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79376581	chr5:98135713-98135714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535895231	chr5:98135743-98135744	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	20837533	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3443 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98112000-98135800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:98123800-98136800	Weak transcription	Fetal Brain Male	brain
3	chr5:98123800-98140600	Weak transcription	Brain Substantia Nigra	brain
4	chr5:98129400-98141200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:98129600-98136000	Weak transcription	Esophagus	oesophagus
6	chr5:98130000-98136600	Weak transcription	Aorta	Aorta
7	chr5:98130000-98137600	Weak transcription	Adipose Nuclei	Adipose
8	chr5:98130200-98136200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:98130200-98139200	Weak transcription	GM12878-XiMat	blood
10	chr5:98130600-98136600	Weak transcription	Fetal Intestine Large	intestine
11	chr5:98130600-98140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:98130800-98136400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:98130800-98138800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:98130800-98138800	Weak transcription	Fetal Stomach	stomach
15	chr5:98130800-98140200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:98131200-98134200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:98131200-98141400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:98131400-98139800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:98131800-98137400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:98132000-98136000	Weak transcription	NHDF-Ad	bronchial
21	chr5:98132000-98139800	Weak transcription	NHEK	skin
22	chr5:98132200-98135800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:98132200-98140200	Weak transcription	Fetal Intestine Small	intestine
24	chr5:98132200-98140400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:98132400-98135200	Weak transcription	HUVEC	blood vessel
26	chr5:98132600-98134400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:98132600-98135400	Weak transcription	NH-A	brain
28	chr5:98132600-98135600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:98132600-98136000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:98132600-98136200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:98132600-98137600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:98132600-98139800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:98132600-98142200	Weak transcription	NHLF	lung
34	chr5:98132600-98154000	Weak transcription	HSMM	muscle
35	chr5:98133200-98139600	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:98133600-98134400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:98134200-98134800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr5:98134400-98134600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:98134400-98135000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:98134600-98137200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:98134800-98136800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:98135000-98137000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:98135600-98135800	Enhancers	Stomach Smooth Muscle	stomach
44	chr5:98137200-98137400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:98139200-98139600	Enhancers	GM12878-XiMat	blood
46	chr5:98139800-98140400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:98139800-98140400	Enhancers	NHEK	skin
48	chr5:98140200-98140400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:98140400-98140600	Enhancers	Esophagus	oesophagus
50	chr5:98140400-98142200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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