Variant report

Variant	nsv1020159
Chromosome Location	chr8:8324419-8450231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1776)
CpG islands
(count:429)
Chromatin interactive
region (count:71)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1776 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:8340777-8341233	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:8441372-8441831	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:8388381-8388665	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:8324363-8325247	HepG2	liver:	n/a	n/a
5	ATF2	chr8:8375795-8376206	GM12878	blood:	n/a	n/a
6	ATF2	chr8:8353476-8354189	GM12878	blood:	n/a	n/a
7	ATF2	chr8:8426436-8427026	GM12878	blood:	n/a	n/a
8	ATF2	chr8:8407452-8407867	GM12878	blood:	n/a	n/a
9	ATF2	chr8:8344838-8345446	GM12878	blood:	n/a	n/a
10	ATF2	chr8:8426361-8427059	GM12878	blood:	n/a	n/a
11	ATF2	chr8:8350224-8351026	GM12878	blood:	n/a	n/a
12	ATF2	chr8:8324529-8324992	GM12878	blood:	n/a	n/a
13	ATF2	chr8:8353515-8354183	GM12878	blood:	n/a	n/a
14	ATF2	chr8:8402416-8402973	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr8:8324550-8324879	GM12878	blood:	n/a	n/a
16	ATF2	chr8:8350336-8351041	GM12878	blood:	n/a	n/a
17	BACH1	chr8:8402290-8402821	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr8:8376012-8376015	K562	blood:	n/a	n/a
19	BACH1	chr8:8422093-8422283	H1-hESC	embryonic stem cell:	n/a	chr8:8422188-8422202
20	BATF	chr8:8379084-8379408	GM12878	blood:	n/a	chr8:8379243-8379253 chr8:8379242-8379253
21	BATF	chr8:8341003-8341212	GM12878	blood:	n/a	n/a
22	BATF	chr8:8426530-8427011	GM12878	blood:	n/a	n/a
23	BATF	chr8:8345103-8345453	GM12878	blood:	n/a	n/a
24	BATF	chr8:8426529-8426975	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	chr8:8350565-8350887	GM12878	blood:	n/a	n/a
28	BATF	chr8:8375727-8376104	GM12878	blood:	n/a	chr8:8375970-8375980
29	BATF	chr8:8353652-8354011	GM12878	blood:	n/a	chr8:8353733-8353742
30	BATF	chr8:8407563-8407870	GM12878	blood:	n/a	n/a
31	BATF	chr8:8353637-8354083	GM12878	blood:	n/a	chr8:8353733-8353742
32	BCL11A	chr8:8426517-8426963	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
33	BCL11A	chr8:8353622-8354069	GM12878	blood:	n/a	chr8:8353725-8353734
34	BCL11A	chr8:8426505-8426978	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
35	BCL11A	chr8:8353657-8354012	GM12878	blood:	n/a	chr8:8353725-8353734
36	BCL3	chr8:8353689-8353967	GM12878	blood:	n/a	chr8:8353725-8353734
37	BCL3	chr8:8353620-8353935	GM12878	blood:	n/a	chr8:8353725-8353734
38	BCL3	chr8:8340375-8341335	A549	lung:	n/a	chr8:8340757-8340766 chr8:8340756-8340765
39	BCLAF1	chr8:8353515-8354310	GM12878	blood:	n/a	chr8:8353725-8353734
40	BCLAF1	chr8:8426415-8427052	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
41	BCLAF1	chr8:8353668-8354188	GM12878	blood:	n/a	chr8:8353725-8353734
42	BCLAF1	chr8:8412669-8413041	GM12878	blood:	n/a	n/a
43	BCLAF1	chr8:8350255-8351074	GM12878	blood:	n/a	n/a
44	BCLAF1	chr8:8426415-8426984	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
45	BHLHE40	chr8:8423112-8423388	HepG2	liver:	n/a	n/a
46	BHLHE40	chr8:8423087-8423380	K562	blood:	n/a	n/a
47	BHLHE40	chr8:8426372-8427065	GM12878	blood:	n/a	n/a
48	BHLHE40	chr8:8324440-8325002	HepG2	liver:	n/a	n/a
49	BHLHE40	chr8:8350545-8350910	GM12878	blood:	n/a	n/a
50	BHLHE40	chr8:8353598-8354014	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	chr8:8439596-8439646	NH-A	brain:	n/a
2	chr8:8420735-8420785	U87	brain:	n/a
3	chr8:8439596-8439646	NH-A	brain:	n/a
4	chr8:8420735-8420785	U87	brain:	n/a
5	chr8:8402366-8402416	H1-hESC	embryonic stem cell:	embryo
6	chr8:8439596-8439646	HRPEpiC	eye:	n/a
7	chr8:8420735-8420785	HCPEpiC	choroid plexus:	n/a
8	chr8:8341955-8342005	HCT-116	colon:	n/a
9	chr8:8402366-8402416	AG10803	skin:	n/a
10	chr8:8412440-8412490	PrEC	prostate:	n/a
11	chr8:8439596-8439646	RPTEC	kidney:	n/a
12	chr8:8420735-8420785	ovcar-3	ovarian:	n/a
13	chr8:8341955-8342005	HIPEpiC	eye:	n/a
14	chr8:8341955-8342005	HCF	heart:	n/a
15	chr8:8388047-8388097	GM06990	blood:	n/a
16	chr8:8402366-8402416	NHDF-neo	bronchial:	n/a
17	chr8:8412440-8412490	HMEC	breast:	n/a
18	chr8:8419587-8419637	HepG2	liver:	n/a
19	chr8:8402366-8402416	ECC-1	luminal epithelium:	n/a
20	chr8:8402366-8402416	SK-N-MC	brain:	n/a
21	chr8:8341955-8342005	HepG2	liver:	n/a
22	chr8:8420735-8420785	NHBE	bronchial:	n/a
23	chr8:8388047-8388097	AG04449	skin:	fetal
24	chr8:8388047-8388097	Hela-S3	cervix:	n/a
25	chr8:8341955-8342005	HRCEpiC	kidney:	n/a
26	chr8:8439596-8439646	K562	blood:	n/a
27	chr8:8419587-8419637	NB4	blood:	n/a
28	chr8:8420735-8420785	RPTEC	kidney:	n/a
29	chr8:8341955-8342005	AG10803	skin:	n/a
30	chr8:8402366-8402416	GM12878	blood:	n/a
31	chr8:8388047-8388097	HCF	heart:	n/a
32	chr8:8419587-8419637	GM12878	blood:	n/a
33	chr8:8412440-8412490	PANC-1	pancreas:	n/a
34	chr8:8420735-8420785	AG04450	lung:	fetal
35	chr8:8439596-8439646	HNPCEpiC	eye:	n/a
36	chr8:8439596-8439646	H1-hESC	embryonic stem cell:	embryo
37	chr8:8439596-8439646	AoSMC	blood vessel:	n/a
38	chr8:8419587-8419637	Hepatocyte	liver:	n/a
39	chr8:8388047-8388097	MCF10A-Er-Src	breast:	n/a
40	chr8:8341955-8342005	PANC-1	pancreas:	n/a
41	chr8:8388047-8388097	U87	brain:	n/a
42	chr8:8420735-8420785	HUVEC	blood vessel:	n/a
43	chr8:8388047-8388097	HEEpiC	esophagus:	n/a
44	chr8:8388047-8388097	HCT-116	colon:	n/a
45	chr8:8402366-8402416	PANC-1	pancreas:	n/a
46	chr8:8341955-8342005	Hepatocyte	liver:	n/a
47	chr8:8341955-8342005	BJ	skin:	n/a
48	chr8:8412440-8412490	SK-N-MC	brain:	n/a
49	chr8:8412440-8412490	AG04449	skin:	fetal
50	chr8:8420735-8420785	NT2-D1	testis:	n/a

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:8405670..8408413-chr8:8410858..8412473,2	K562	blood:
2	chr8:8405511..8408091-chr8:8411497..8414103,2	MCF-7	breast:
3	chr8:8411447..8415576-chr8:8419918..8422813,4	MCF-7	breast:
4	chr8:8361888..8365563-chr8:8365721..8369530,3	MCF-7	breast:
5	chr8:8234038..8235691-chr8:8350629..8352175,2	MCF-7	breast:
6	chr8:8317642..8319537-chr8:8411427..8414292,2	MCF-7	breast:
7	chr8:8398950..8401316-chr8:8404016..8406720,2	MCF-7	breast:
8	chr8:8405511..8408091-chr8:8411497..8414103,2	MCF-7	breast:
9	chr8:8146386..8147240-chr8:8365579..8366086,2	MCF-7	breast:
10	chr8:8395182..8397914-chr8:8412349..8414858,2	MCF-7	breast:
11	chr8:8431429..8434026-chr8:8436657..8439955,3	MCF-7	breast:
12	chr8:8369177..8371886-chr8:8372466..8374646,2	K562	blood:
13	chr8:8243125..8245371-chr8:8446587..8449167,2	MCF-7	breast:
14	chr8:8241776..8244765-chr8:8431330..8433692,2	MCF-7	breast:
15	chr8:8336166..8336977-chr8:8365242..8366154,6	MCF-7	breast:
16	chr8:8426650..8428995-chr8:8432055..8433956,2	MCF-7	breast:
17	chr8:8174141..8174643-chr8:8351385..8352080,2	K562	blood:
18	chr8:8360593..8362443-chr8:8363816..8365760,2	K562	blood:
19	chr8:8241232..8244051-chr8:8373031..8376010,3	MCF-7	breast:
20	chr8:8361888..8365563-chr8:8365721..8369530,3	MCF-7	breast:
21	chr8:8405670..8408413-chr8:8410858..8412473,2	K562	blood:
22	chr8:8353865..8355858-chr8:8364054..8366551,2	MCF-7	breast:
23	chr8:8242030..8244345-chr8:8365871..8368384,3	MCF-7	breast:
24	chr8:8336166..8336956-chr8:8365242..8366153,3	MCF-7	breast:
25	chr8:8412630..8415274-chr8:8423101..8424700,2	K562	blood:
26	chr8:8411777..8414467-chr8:8512420..8515459,3	MCF-7	breast:
27	chr8:8430219..8432230-chr8:8438202..8440679,2	K562	blood:
28	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:
29	chr8:8395182..8397914-chr8:8412349..8414858,2	MCF-7	breast:
30	chr8:8431429..8434026-chr8:8436657..8439955,3	MCF-7	breast:
31	chr8:8317671..8320936-chr8:8323021..8325939,5	MCF-7	breast:
32	chr8:8395034..8396944-chr8:8396976..8398934,2	MCF-7	breast:
33	chr8:8147966..8148515-chr8:8336160..8336710,2	MCF-7	breast:
34	chr8:8402871..8405951-chr8:8409300..8411687,3	MCF-7	breast:
35	chr8:8398950..8401316-chr8:8404016..8406720,2	MCF-7	breast:
36	chr8:8424041..8426477-chr8:8428202..8430360,2	K562	blood:
37	chr11:118505556..118506083-chr8:8380254..8381027,2	HCT-116	colon:
38	chr8:8353865..8355858-chr8:8364054..8366551,2	MCF-7	breast:
39	chr8:8411406..8413359-chr8:8458313..8460568,2	MCF-7	breast:
40	chr8:8411447..8415576-chr8:8419918..8422813,4	MCF-7	breast:
41	chr8:8242353..8245621-chr8:8412264..8415410,4	MCF-7	breast:
42	chr8:8146274..8147281-chr8:8365228..8366135,6	MCF-7	breast:
43	chr8:8412630..8415274-chr8:8423101..8424700,2	K562	blood:
44	chr8:8317400..8319199-chr8:8344944..8347907,2	MCF-7	breast:
45	chr8:8336166..8336956-chr8:8365242..8366153,3	MCF-7	breast:
46	chr8:8360593..8362443-chr8:8363816..8365760,2	K562	blood:
47	chr8:8424041..8426477-chr8:8428202..8430360,2	K562	blood:
48	chr8:8422023..8423577-chr8:8457115..8459478,2	MCF-7	breast:
49	chr8:8422238..8425021-chr8:8428768..8430499,2	MCF-7	breast:
50	chr8:8411664..8414236-chr8:8423427..8425709,2	MCF-7	breast:

(count:24 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 6702 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:6702 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548870056	chr8:8324447-8324448	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188066016	chr8:8324464-8324465	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192942021	chr8:8324465-8324466	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372880891	chr8:8324502-8324503	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556584461	chr8:8324504-8324505	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138872412	chr8:8324516-8324517	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79522232	chr8:8324518-8324519	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554367655	chr8:8324523-8324524	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530186135	chr8:8324534-8324535	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376536660	chr8:8324536-8324537	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546699817	chr8:8324542-8324543	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144691172	chr8:8324558-8324559	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185136169	chr8:8324592-8324593	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551211675	chr8:8324600-8324601	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148499689	chr8:8324606-8324607	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530656591	chr8:8324613-8324614	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550341772	chr8:8324627-8324628	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561076840	chr8:8324671-8324672	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs55817265	chr8:8324686-8324687	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552706662	chr8:8324688-8324689	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566418165	chr8:8324691-8324692	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545238341	chr8:8324702-8324703	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189594851	chr8:8324736-8324737	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559334911	chr8:8324770-8324771	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs36085678	chr8:8324778-8324779	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536662526	chr8:8324785-8324786	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575993700	chr8:8324799-8324800	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs58112368	chr8:8324819-8324820	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181847555	chr8:8324834-8324835	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142782623	chr8:8324843-8324844	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540680992	chr8:8324850-8324851	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560286885	chr8:8324853-8324854	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2976882	chr8:8324860-8324861	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs545782466	chr8:8324884-8324885	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112632971	chr8:8324885-8324886	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564866014	chr8:8324913-8324914	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545688623	chr8:8324921-8324922	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552809747	chr8:8324922-8324923	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541112293	chr8:8324983-8324984	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530690134	chr8:8325013-8325014	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561017685	chr8:8325028-8325029	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150597152	chr8:8325053-8325054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183960383	chr8:8325055-8325056	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529754913	chr8:8325060-8325061	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546721105	chr8:8325075-8325076	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140610886	chr8:8325085-8325086	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572956823	chr8:8325121-8325122	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144451903	chr8:8325132-8325133	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188248096	chr8:8325138-8325139	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180714671	chr8:8325147-8325148	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 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:1564 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8313800-8324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:8314000-8325400	Weak transcription	Gastric	stomach
3	chr8:8319400-8324800	Enhancers	HepG2	liver
4	chr8:8319400-8325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:8319400-8325400	Weak transcription	Pancreas	Pancrea
6	chr8:8319600-8324600	Weak transcription	Fetal Kidney	kidney
7	chr8:8319800-8327000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:8320200-8324600	Weak transcription	Placenta	Placenta
9	chr8:8322600-8325000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:8322800-8325800	Enhancers	Duodenum Mucosa	Duodenum
11	chr8:8323000-8326600	Enhancers	Fetal Intestine Small	intestine
12	chr8:8323200-8324800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:8323200-8325800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:8323400-8326000	Enhancers	GM12878-XiMat	blood
15	chr8:8324000-8325600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:8324000-8325800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:8324000-8325800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:8324000-8326600	Enhancers	Fetal Intestine Large	intestine
19	chr8:8324200-8324600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:8324200-8325400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:8324200-8325600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr8:8324200-8325600	Enhancers	Stomach Mucosa	stomach
23	chr8:8324200-8325800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:8324200-8326000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:8324200-8326200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:8324400-8324600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:8324400-8324800	Enhancers	Fetal Lung	lung
28	chr8:8324400-8325000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:8324400-8325000	Enhancers	Liver	Liver
30	chr8:8324400-8325000	Flanking Active TSS	A549	lung
31	chr8:8324400-8325200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr8:8324600-8324800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:8324600-8325000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:8324600-8325000	Enhancers	Fetal Kidney	kidney
35	chr8:8324600-8325600	Enhancers	Placenta	Placenta
36	chr8:8324800-8325200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:8324800-8325200	Flanking Active TSS	HepG2	liver
38	chr8:8325000-8325600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:8325000-8325600	Enhancers	A549	lung
40	chr8:8325200-8325800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:8325200-8326600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:8325200-8326600	Enhancers	HepG2	liver
43	chr8:8325400-8325600	Enhancers	Pancreas	Pancrea
44	chr8:8325400-8325800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:8325400-8325800	Enhancers	Gastric	stomach
46	chr8:8325400-8328000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:8325600-8326000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:8326000-8326400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:8326400-8328400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:8326600-8336000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links