Variant report

Variant	nsv465455
Chromosome Location	chr8:8318850-8448688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1850)
CpG islands
(count:429)
Chromatin interactive
region (count:74)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1850 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:8318936-8319027	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:8388381-8388665	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:8441372-8441831	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:8340777-8341233	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:8324363-8325247	HepG2	liver:	n/a	n/a
6	ATF2	chr8:8324550-8324879	GM12878	blood:	n/a	n/a
7	ATF2	chr8:8324529-8324992	GM12878	blood:	n/a	n/a
8	ATF2	chr8:8407452-8407867	GM12878	blood:	n/a	n/a
9	ATF2	chr8:8426436-8427026	GM12878	blood:	n/a	n/a
10	ATF2	chr8:8353476-8354189	GM12878	blood:	n/a	n/a
11	ATF2	chr8:8426361-8427059	GM12878	blood:	n/a	n/a
12	ATF2	chr8:8350336-8351041	GM12878	blood:	n/a	n/a
13	ATF2	chr8:8402416-8402973	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr8:8344838-8345446	GM12878	blood:	n/a	n/a
15	ATF2	chr8:8353515-8354183	GM12878	blood:	n/a	n/a
16	ATF2	chr8:8375795-8376206	GM12878	blood:	n/a	n/a
17	ATF2	chr8:8350224-8351026	GM12878	blood:	n/a	n/a
18	BACH1	chr8:8402290-8402821	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr8:8422093-8422283	H1-hESC	embryonic stem cell:	n/a	chr8:8422188-8422202
20	BACH1	chr8:8376012-8376015	K562	blood:	n/a	n/a
21	BATF	chr8:8341003-8341212	GM12878	blood:	n/a	n/a
22	BATF	chr8:8345103-8345453	GM12878	blood:	n/a	n/a
23	BATF	chr8:8375727-8376104	GM12878	blood:	n/a	chr8:8375970-8375980
24	BATF	chr8:8407563-8407870	GM12878	blood:	n/a	n/a
25	BATF	chr8:8375837-8376156	GM12878	blood:	n/a	chr8:8375970-8375980
26	BATF	chr8:8407590-8407858	GM12878	blood:	n/a	n/a
27	BATF	chr8:8426530-8427011	GM12878	blood:	n/a	n/a
28	BATF	chr8:8379084-8379408	GM12878	blood:	n/a	chr8:8379243-8379253 chr8:8379242-8379253
29	BATF	chr8:8353652-8354011	GM12878	blood:	n/a	chr8:8353733-8353742
30	BATF	chr8:8353637-8354083	GM12878	blood:	n/a	chr8:8353733-8353742
31	BATF	chr8:8426529-8426975	GM12878	blood:	n/a	n/a
32	BATF	chr8:8350565-8350887	GM12878	blood:	n/a	n/a
33	BCL11A	chr8:8426505-8426978	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
34	BCL11A	chr8:8353622-8354069	GM12878	blood:	n/a	chr8:8353725-8353734
35	BCL11A	chr8:8426517-8426963	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
36	BCL11A	chr8:8353657-8354012	GM12878	blood:	n/a	chr8:8353725-8353734
37	BCL3	chr8:8340375-8341335	A549	lung:	n/a	chr8:8340757-8340766 chr8:8340756-8340765
38	BCL3	chr8:8353689-8353967	GM12878	blood:	n/a	chr8:8353725-8353734
39	BCL3	chr8:8353620-8353935	GM12878	blood:	n/a	chr8:8353725-8353734
40	BCLAF1	chr8:8426415-8426984	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
41	BCLAF1	chr8:8412669-8413041	GM12878	blood:	n/a	n/a
42	BCLAF1	chr8:8353668-8354188	GM12878	blood:	n/a	chr8:8353725-8353734
43	BCLAF1	chr8:8353515-8354310	GM12878	blood:	n/a	chr8:8353725-8353734
44	BCLAF1	chr8:8350255-8351074	GM12878	blood:	n/a	n/a
45	BCLAF1	chr8:8426415-8427052	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
46	BHLHE40	chr8:8426372-8427065	GM12878	blood:	n/a	n/a
47	BHLHE40	chr8:8423087-8423380	K562	blood:	n/a	n/a
48	BHLHE40	chr8:8423112-8423388	HepG2	liver:	n/a	n/a
49	BHLHE40	chr8:8324440-8325002	HepG2	liver:	n/a	n/a
50	BHLHE40	chr8:8350545-8350910	GM12878	blood:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8412440-8412490	SAEC	small airway:	n/a
2	chr8:8439596-8439646	HRPEpiC	eye:	n/a
3	chr8:8412440-8412490	SAEC	small airway:	n/a
4	chr8:8439596-8439646	HRPEpiC	eye:	n/a
5	chr8:8420735-8420785	MCF-7	breast:	n/a
6	chr8:8402366-8402416	NHBE	bronchial:	n/a
7	chr8:8420735-8420785	SAEC	small airway:	n/a
8	chr8:8419587-8419637	ECC-1	luminal epithelium:	n/a
9	chr8:8439596-8439646	PFSK-1	brain:	n/a
10	chr8:8412440-8412490	HL-60	blood:	n/a
11	chr8:8388047-8388097	GM12891	blood:	n/a
12	chr8:8341955-8342005	MCF10A-Er-Src	breast:	n/a
13	chr8:8402366-8402416	ovcar-3	ovarian:	n/a
14	chr8:8420735-8420785	HL-60	blood:	n/a
15	chr8:8412440-8412490	HCM	heart:	n/a
16	chr8:8439596-8439646	IMR90	lung:	fetal
17	chr8:8412440-8412490	Jurkat	blood:	n/a
18	chr8:8388047-8388097	GM19239	blood:	n/a
19	chr8:8419587-8419637	NHDF-neo	bronchial:	n/a
20	chr8:8412440-8412490	K562	blood:	n/a
21	chr8:8341955-8342005	MCF-7	breast:	n/a
22	chr8:8412440-8412490	BE2_C	brain:	n/a
23	chr8:8420735-8420785	HEK293	kidney:	embryo
24	chr8:8388047-8388097	AG10803	skin:	n/a
25	chr8:8412440-8412490	SK-N-SH_RA	brain:	n/a
26	chr8:8402366-8402416	GM19239	blood:	n/a
27	chr8:8402366-8402416	GM12878	blood:	n/a
28	chr8:8341955-8342005	HIPEpiC	eye:	n/a
29	chr8:8388047-8388097	PANC-1	pancreas:	n/a
30	chr8:8402366-8402416	GM12892	blood:	n/a
31	chr8:8439596-8439646	RPTEC	kidney:	n/a
32	chr8:8419587-8419637	LNCaP	prostate:	n/a
33	chr8:8341955-8342005	NHBE	bronchial:	n/a
34	chr8:8402366-8402416	HCM	heart:	n/a
35	chr8:8412440-8412490	PrEC	prostate:	n/a
36	chr8:8388047-8388097	GM12878	blood:	n/a
37	chr8:8419587-8419637	GM19239	blood:	n/a
38	chr8:8388047-8388097	HUVEC	blood vessel:	n/a
39	chr8:8388047-8388097	U87	brain:	n/a
40	chr8:8341955-8342005	NT2-D1	testis:	n/a
41	chr8:8439596-8439646	NH-A	brain:	n/a
42	chr8:8419587-8419637	SKMC	muscle:	n/a
43	chr8:8341955-8342005	Caco-2	colon:	n/a
44	chr8:8402366-8402416	Jurkat	blood:	n/a
45	chr8:8419587-8419637	SAEC	small airway:	n/a
46	chr8:8439596-8439646	ECC-1	luminal epithelium:	n/a
47	chr8:8420735-8420785	GM12878	blood:	n/a
48	chr8:8412440-8412490	GM06990	blood:	n/a
49	chr8:8388047-8388097	HCF	heart:	n/a
50	chr8:8341955-8342005	PANC-1	pancreas:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:8317671..8320936-chr8:8323021..8325939,5	MCF-7	breast:
2	chr8:8411664..8414236-chr8:8423427..8425709,2	MCF-7	breast:
3	chr8:8130411..8130935-chr8:8374466..8375028,2	K562	blood:
4	chr8:8369177..8371886-chr8:8372466..8374646,2	K562	blood:
5	chr8:8336166..8336977-chr8:8365242..8366154,6	MCF-7	breast:
6	chr8:8411447..8415576-chr8:8419918..8422813,4	MCF-7	breast:
7	chr11:118505556..118506083-chr8:8380254..8381027,2	HCT-116	colon:
8	chr8:8336166..8336977-chr8:8365242..8366154,6	MCF-7	breast:
9	chr8:8403320..8405523-chr8:8412097..8413733,2	K562	blood:
10	chr8:8237437..8239484-chr8:8365822..8367585,2	MCF-7	breast:
11	chr8:8336166..8336956-chr8:8365242..8366153,3	MCF-7	breast:
12	chr8:8402871..8405951-chr8:8409300..8411687,3	MCF-7	breast:
13	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:
14	chr8:8242353..8245621-chr8:8412264..8415410,4	MCF-7	breast:
15	chr8:8411664..8414236-chr8:8423427..8425709,2	MCF-7	breast:
16	chr8:8405670..8408413-chr8:8410858..8412473,2	K562	blood:
17	chr8:8422023..8423577-chr8:8457115..8459478,2	MCF-7	breast:
18	chr8:8241927..8245169-chr8:8316549..8319625,5	MCF-7	breast:
19	chr8:8398950..8401316-chr8:8404016..8406720,2	MCF-7	breast:
20	chr8:8361888..8365563-chr8:8365721..8369530,3	MCF-7	breast:
21	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:
22	chr8:8241776..8244765-chr8:8431330..8433692,2	MCF-7	breast:
23	chr8:8405511..8408091-chr8:8411497..8414103,2	MCF-7	breast:
24	chr8:8317642..8319537-chr8:8411427..8414292,2	MCF-7	breast:
25	chr8:8241232..8244051-chr8:8373031..8376010,3	MCF-7	breast:
26	chr8:8412630..8415274-chr8:8423101..8424700,2	K562	blood:
27	chr8:8422238..8425021-chr8:8428768..8430499,2	MCF-7	breast:
28	chr8:8336166..8336956-chr8:8365242..8366153,3	MCF-7	breast:
29	chr8:8172038..8172585-chr8:8365267..8365778,2	MCF-7	breast:
30	chr8:8346656..8348719-chr8:8355280..8357515,2	K562	blood:
31	chr8:8146274..8147281-chr8:8365228..8366135,6	MCF-7	breast:
32	chr8:8395182..8397914-chr8:8412349..8414858,2	MCF-7	breast:
33	chr8:8426650..8428995-chr8:8432055..8433956,2	MCF-7	breast:
34	chr8:8403320..8405523-chr8:8412097..8413733,2	K562	blood:
35	chr8:8411406..8413359-chr8:8458313..8460568,2	MCF-7	breast:
36	chr8:8395034..8396944-chr8:8396976..8398934,2	MCF-7	breast:
37	chr8:8353865..8355858-chr8:8364054..8366551,2	MCF-7	breast:
38	chr8:8361888..8365563-chr8:8365721..8369530,3	MCF-7	breast:
39	chr8:8147966..8148515-chr8:8336160..8336710,2	MCF-7	breast:
40	chr8:8398950..8401316-chr8:8404016..8406720,2	MCF-7	breast:
41	chr8:8422238..8425021-chr8:8428768..8430499,2	MCF-7	breast:
42	chr8:8395034..8396944-chr8:8396976..8398934,2	MCF-7	breast:
43	chr8:8317141..8321564-chr8:8323708..8327409,4	MCF-7	breast:
44	chr8:8424041..8426477-chr8:8428202..8430360,2	K562	blood:
45	chr8:8373770..8375997-chr8:8384938..8387829,2	MCF-7	breast:
46	chr8:8402871..8405951-chr8:8409300..8411687,3	MCF-7	breast:
47	chr8:8346656..8348719-chr8:8355280..8357515,2	K562	blood:
48	chr8:8405511..8408091-chr8:8411497..8414103,2	MCF-7	breast:
49	chr8:8146302..8147264-chr8:8365295..8366108,2	MCF-7	breast:
50	chr8:8243125..8245371-chr8:8446587..8449167,2	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLDN23-1	chr8:8418711-8418867	NONHSAT124878
2	lnc-CLDN23-1	chr8:8422143-8422213	XLOC_006698
3	lnc-CLDN23-1	chr8:8412783-8413276	NONHSAT124878
4	lnc-CLDN23-1	chr8:8417404-8417553	NONHSAT124878
5	lnc-CLDN23-1	chr8:8418904-8419044	ENSG00000253130
6	lnc-PRAGMIN.1-8	chr8:8327533-8327591	NONHSAT124876
7	lnc-PRAGMIN.1-4	chr8:8413248-8413598	ENSG00000253343
8	lnc-PRAGMIN.1-8	chr8:8344925-8345359	NONHSAT124876
9	lnc-PRAGMIN.1-9	chr8:8439864-8440165	NONHSAT124884
10	lnc-CLDN23-2	chr8:8417404-8417553	ENSG00000253774
11	lnc-CLDN23-1	chr8:8431228-8435105	NONHSAT124878
12	lnc-PRAGMIN.1-8	chr8:8340447-8340532	NONHSAT124876
13	lnc-CLDN23-2	chr8:8419343-8419634	ENSG00000253774
14	lnc-CLDN23-1	chr8:8418901-8419044	NONHSAT124878
15	lnc-AC068020.1-4	chr8:8328275-8328408	NONHSAT124875
16	lnc-CLDN23-1	chr8:8421329-8422570	NONHSAT124878
17	lnc-CLDN23-1	chr8:8419343-8419634	NONHSAT124878
18	lnc-PRAGMIN.1-4	chr8:8418430-8418475	ENSG00000253343
19	lnc-CLDN23-1	chr8:8421617-8422045	ENSG00000253130
20	lnc-AC068020.1-4	chr8:8322957-8323060	NONHSAT124875
21	lnc-CLDN23-1	chr8:8426474-8428227	NONHSAT124878
22	lnc-CLDN23-2	chr8:8418711-8418847	ENSG00000253774
23	lnc-CLDN23-1	chr8:8418901-8419044	ENSG00000253130
24	lnc-CLDN23-1	chr8:8426697-8427198	ENSG00000253130
25	lnc-CLDN23-1	chr8:8426697-8427048	XLOC_006698

No data

Variant related genes	Relation type
ENSG00000254153	TF binding region
ENSG00000253774	TF binding region
ENSG00000253343	TF binding region
RN7SL178P	TF binding region
ENSG00000253130	TF binding region
ENSG00000254153	CpG island
ENSG00000253774	CpG island
ENSG00000253343	CpG island
RN7SL178P	CpG island
ENSG00000253130	CpG island
ENSG00000263616	chromatin interactions
ENSG00000019144	chromatin interactions
ENSG00000254153	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000182319	chromatin interactions

Extended variants
information (count: 6988 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:6988 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2976876	chr8:8318850-8318851	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545778283	chr8:8318871-8318872	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs562758984	chr8:8318874-8318875	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs142692312	chr8:8318917-8318918	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531651116	chr8:8318919-8318920	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533660036	chr8:8318920-8318921	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76233512	chr8:8318936-8318937	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs189162623	chr8:8318948-8318949	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs527363412	chr8:8318967-8318968	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs144853504	chr8:8319049-8319050	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs80216243	chr8:8319050-8319051	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146730277	chr8:8319089-8319090	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs140327570	chr8:8319097-8319098	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369836526	chr8:8319117-8319118	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374029175	chr8:8319124-8319125	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs535768613	chr8:8319148-8319149	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2921056	chr8:8319182-8319183	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs59277329	chr8:8319184-8319185	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534801668	chr8:8319214-8319215	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558280348	chr8:8319233-8319234	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536023051	chr8:8319241-8319242	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs2980768	chr8:8319249-8319250	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs537415490	chr8:8319253-8319254	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs7827250	chr8:8319316-8319317	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576381296	chr8:8319336-8319337	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs2921055	chr8:8319342-8319343	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs191851289	chr8:8319388-8319389	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572315045	chr8:8319435-8319436	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs377499849	chr8:8319457-8319458	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs150349240	chr8:8319485-8319486	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs138004190	chr8:8319489-8319490	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184024792	chr8:8319498-8319499	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs199527412	chr8:8319558-8319559	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538245814	chr8:8319606-8319607	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111631429	chr8:8319686-8319687	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73505526	chr8:8319717-8319718	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs111808272	chr8:8319746-8319747	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549308293	chr8:8319762-8319763	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188366866	chr8:8319784-8319785	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535175979	chr8:8319802-8319803	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181614581	chr8:8319803-8319804	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571683382	chr8:8319809-8319810	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537174465	chr8:8319848-8319849	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs186608065	chr8:8319876-8319877	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574121737	chr8:8319889-8319890	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs114061322	chr8:8319904-8319905	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555653123	chr8:8319906-8319907	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs544322726	chr8:8319909-8319910	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs386721956	chr8:8319916-8319917	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs79951757	chr8:8319917-8319918	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Glioma	20126413	CNVD

Chromatin state (count:1637 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8312200-8321000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr8:8313800-8324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:8314000-8319000	Weak transcription	Pancreas	Pancrea
4	chr8:8314000-8320000	Weak transcription	Esophagus	oesophagus
5	chr8:8314000-8320400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:8314000-8325400	Weak transcription	Gastric	stomach
7	chr8:8314200-8319200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:8315400-8320200	Weak transcription	HSMMtube	muscle
9	chr8:8315400-8322800	Weak transcription	A549	lung
10	chr8:8317200-8320200	Enhancers	Placenta	Placenta
11	chr8:8317600-8320800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:8317800-8319000	Enhancers	HepG2	liver
13	chr8:8317800-8324000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:8318200-8319000	Weak transcription	Lung	lung
15	chr8:8318200-8319200	Flanking Active TSS	Dnd41	blood
16	chr8:8318200-8319400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr8:8318200-8320000	Enhancers	Fetal Intestine Large	intestine
18	chr8:8318200-8321800	Enhancers	Duodenum Mucosa	Duodenum
19	chr8:8318400-8320200	Enhancers	Fetal Intestine Small	intestine
20	chr8:8318600-8319200	Enhancers	HMEC	breast
21	chr8:8318600-8319400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:8318600-8319400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:8318600-8319400	Enhancers	Stomach Mucosa	stomach
24	chr8:8318600-8319600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:8318600-8319600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:8318600-8319600	Weak transcription	Fetal Lung	lung
27	chr8:8318600-8319600	Enhancers	NHEK	skin
28	chr8:8318600-8320000	Enhancers	Thymus	Thymus
29	chr8:8318600-8320600	Enhancers	Fetal Thymus	thymus
30	chr8:8318800-8319000	Weak transcription	Fetal Kidney	kidney
31	chr8:8318800-8319200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:8318800-8319200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:8318800-8319400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:8318800-8319400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:8318800-8319800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:8318800-8319800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr8:8319000-8319400	Enhancers	Lung	lung
38	chr8:8319000-8319400	Enhancers	Pancreas	Pancrea
39	chr8:8319000-8319400	Flanking Active TSS	HepG2	liver
40	chr8:8319000-8319600	Enhancers	Fetal Kidney	kidney
41	chr8:8319200-8319600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:8319200-8321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:8319200-8321200	Enhancers	Dnd41	blood
44	chr8:8319400-8322800	Weak transcription	Stomach Mucosa	stomach
45	chr8:8319400-8324200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:8319400-8324200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:8319400-8324400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:8319400-8324800	Enhancers	HepG2	liver
49	chr8:8319400-8325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:8319400-8325400	Weak transcription	Pancreas	Pancrea

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