Variant report

Variant	nsv1026251
Chromosome Location	chr8:8319925-8448688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1785)
CpG islands
(count:427)
Chromatin interactive
region (count:73)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1785 , 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	chr8:8324363-8325247	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:8388381-8388665	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:8340777-8341233	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:8441372-8441831	HepG2	liver:	n/a	n/a
5	ATF2	chr8:8426361-8427059	GM12878	blood:	n/a	n/a
6	ATF2	chr8:8350336-8351041	GM12878	blood:	n/a	n/a
7	ATF2	chr8:8407452-8407867	GM12878	blood:	n/a	n/a
8	ATF2	chr8:8375795-8376206	GM12878	blood:	n/a	n/a
9	ATF2	chr8:8324550-8324879	GM12878	blood:	n/a	n/a
10	ATF2	chr8:8350224-8351026	GM12878	blood:	n/a	n/a
11	ATF2	chr8:8344838-8345446	GM12878	blood:	n/a	n/a
12	ATF2	chr8:8402416-8402973	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr8:8426436-8427026	GM12878	blood:	n/a	n/a
14	ATF2	chr8:8353515-8354183	GM12878	blood:	n/a	n/a
15	ATF2	chr8:8353476-8354189	GM12878	blood:	n/a	n/a
16	ATF2	chr8:8324529-8324992	GM12878	blood:	n/a	n/a
17	BACH1	chr8:8402290-8402821	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr8:8422093-8422283	H1-hESC	embryonic stem cell:	n/a	chr8:8422188-8422202
19	BACH1	chr8:8376012-8376015	K562	blood:	n/a	n/a
20	BATF	chr8:8426530-8427011	GM12878	blood:	n/a	n/a
21	BATF	chr8:8353652-8354011	GM12878	blood:	n/a	chr8:8353733-8353742
22	BATF	chr8:8345103-8345453	GM12878	blood:	n/a	n/a
23	BATF	chr8:8353637-8354083	GM12878	blood:	n/a	chr8:8353733-8353742
24	BATF	chr8:8375837-8376156	GM12878	blood:	n/a	chr8:8375970-8375980
25	BATF	chr8:8341003-8341212	GM12878	blood:	n/a	n/a
26	BATF	chr8:8375727-8376104	GM12878	blood:	n/a	chr8:8375970-8375980
27	BATF	chr8:8426529-8426975	GM12878	blood:	n/a	n/a
28	BATF	chr8:8350565-8350887	GM12878	blood:	n/a	n/a
29	BATF	chr8:8379084-8379408	GM12878	blood:	n/a	chr8:8379243-8379253 chr8:8379242-8379253
30	BATF	chr8:8407563-8407870	GM12878	blood:	n/a	n/a
31	BATF	chr8:8407590-8407858	GM12878	blood:	n/a	n/a
32	BCL11A	chr8:8353657-8354012	GM12878	blood:	n/a	chr8:8353725-8353734
33	BCL11A	chr8:8353622-8354069	GM12878	blood:	n/a	chr8:8353725-8353734
34	BCL11A	chr8:8426517-8426963	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
35	BCL11A	chr8:8426505-8426978	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
36	BCL3	chr8:8353620-8353935	GM12878	blood:	n/a	chr8:8353725-8353734
37	BCL3	chr8:8353689-8353967	GM12878	blood:	n/a	chr8:8353725-8353734
38	BCL3	chr8:8340375-8341335	A549	lung:	n/a	chr8:8340757-8340766 chr8:8340756-8340765
39	BCLAF1	chr8:8426415-8426984	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
40	BCLAF1	chr8:8353515-8354310	GM12878	blood:	n/a	chr8:8353725-8353734
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	chr8:8350255-8351074	GM12878	blood:	n/a	n/a
44	BCLAF1	chr8:8426415-8427052	GM12878	blood:	n/a	chr8:8426749-8426758 chr8:8426641-8426650
45	BHLHE40	chr8:8324440-8325002	HepG2	liver:	n/a	n/a
46	BHLHE40	chr8:8426372-8427065	GM12878	blood:	n/a	n/a
47	BHLHE40	chr8:8350545-8350910	GM12878	blood:	n/a	n/a
48	BHLHE40	chr8:8353598-8354014	GM12878	blood:	n/a	n/a
49	BHLHE40	chr8:8423112-8423388	HepG2	liver:	n/a	n/a
50	BHLHE40	chr8:8423087-8423380	K562	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8341955-8342005	HCM	heart:	n/a
2	chr8:8419587-8419637	HPAEpiC	pulmonary alveolar:	n/a
3	chr8:8412440-8412490	AG10803	skin:	n/a
4	chr8:8412440-8412490	Caco-2	colon:	n/a
5	chr8:8402366-8402416	K562	blood:	n/a
6	chr8:8439596-8439646	IMR90	lung:	fetal
7	chr8:8388047-8388097	A549	lung:	n/a
8	chr8:8388047-8388097	SK-N-MC	brain:	n/a
9	chr8:8402366-8402416	AG10803	skin:	n/a
10	chr8:8439596-8439646	Jurkat	blood:	n/a
11	chr8:8419587-8419637	HCM	heart:	n/a
12	chr8:8388047-8388097	ovcar-3	ovarian:	n/a
13	chr8:8341955-8342005	SK-N-MC	brain:	n/a
14	chr8:8388047-8388097	HPAEpiC	pulmonary alveolar:	n/a
15	chr8:8402366-8402416	PrEC	prostate:	n/a
16	chr8:8439596-8439646	AG04449	skin:	fetal
17	chr8:8412440-8412490	AoSMC	blood vessel:	n/a
18	chr8:8341955-8342005	H1-hESC	embryonic stem cell:	embryo
19	chr8:8402366-8402416	GM06990	blood:	n/a
20	chr8:8439596-8439646	SAEC	small airway:	n/a
21	chr8:8412440-8412490	T-47D	breast:	n/a
22	chr8:8439596-8439646	NH-A	brain:	n/a
23	chr8:8388047-8388097	AoSMC	blood vessel:	n/a
24	chr8:8420735-8420785	PrEC	prostate:	n/a
25	chr8:8412440-8412490	RPTEC	kidney:	n/a
26	chr8:8388047-8388097	Jurkat	blood:	n/a
27	chr8:8419587-8419637	HCT-116	colon:	n/a
28	chr8:8341955-8342005	NB4	blood:	n/a
29	chr8:8388047-8388097	HNPCEpiC	eye:	n/a
30	chr8:8419587-8419637	NHDF-neo	bronchial:	n/a
31	chr8:8420735-8420785	HPAEpiC	pulmonary alveolar:	n/a
32	chr8:8388047-8388097	U87	brain:	n/a
33	chr8:8402366-8402416	HEEpiC	esophagus:	n/a
34	chr8:8420735-8420785	ovcar-3	ovarian:	n/a
35	chr8:8412440-8412490	HUVEC	blood vessel:	n/a
36	chr8:8420735-8420785	T-47D	breast:	n/a
37	chr8:8402366-8402416	GM12892	blood:	n/a
38	chr8:8420735-8420785	LNCaP	prostate:	n/a
39	chr8:8388047-8388097	GM19239	blood:	n/a
40	chr8:8402366-8402416	SK-N-SH	brain:	n/a
41	chr8:8420735-8420785	AG10803	skin:	n/a
42	chr8:8412440-8412490	U87	brain:	n/a
43	chr8:8402366-8402416	AG04450	lung:	fetal
44	chr8:8419587-8419637	PrEC	prostate:	n/a
45	chr8:8419587-8419637	A549	lung:	n/a
46	chr8:8439596-8439646	PFSK-1	brain:	n/a
47	chr8:8419587-8419637	AG04450	lung:	fetal
48	chr8:8420735-8420785	HL-60	blood:	n/a
49	chr8:8439596-8439646	SKMC	muscle:	n/a
50	chr8:8420735-8420785	HCT-116	colon:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:8431429..8434026-chr8:8436657..8439955,3	MCF-7	breast:
2	chr8:8242160..8245521-chr8:8318713..8321604,3	MCF-7	breast:
3	chr8:8395182..8397914-chr8:8412349..8414858,2	MCF-7	breast:
4	chr8:8422238..8425021-chr8:8428768..8430499,2	MCF-7	breast:
5	chr8:8360593..8362443-chr8:8363816..8365760,2	K562	blood:
6	chr8:8360593..8362443-chr8:8363816..8365760,2	K562	blood:
7	chr8:8346656..8348719-chr8:8355280..8357515,2	K562	blood:
8	chr8:8317671..8320936-chr8:8323021..8325939,5	MCF-7	breast:
9	chr8:8398950..8401316-chr8:8404016..8406720,2	MCF-7	breast:
10	chr8:8147966..8148515-chr8:8336160..8336710,2	MCF-7	breast:
11	chr8:8411406..8413359-chr8:8458313..8460568,2	MCF-7	breast:
12	chr8:8130411..8130935-chr8:8374466..8375028,2	K562	blood:
13	chr19:2475818..2476408-chr8:8412492..8413168,2	HCT-116	colon:
14	chr8:8242030..8244345-chr8:8365871..8368384,3	MCF-7	breast:
15	chr8:8422238..8425021-chr8:8428768..8430499,2	MCF-7	breast:
16	chr8:8411664..8414236-chr8:8423427..8425709,2	MCF-7	breast:
17	chr8:8403320..8405523-chr8:8412097..8413733,2	K562	blood:
18	chr8:8422023..8423577-chr8:8457115..8459478,2	MCF-7	breast:
19	chr8:8430219..8432230-chr8:8438202..8440679,2	K562	blood:
20	chr8:8373770..8375997-chr8:8384938..8387829,2	MCF-7	breast:
21	chr8:8243125..8245371-chr8:8446587..8449167,2	MCF-7	breast:
22	chr8:8395182..8397914-chr8:8412349..8414858,2	MCF-7	breast:
23	chr8:8395034..8396944-chr8:8396976..8398934,2	MCF-7	breast:
24	chr8:8369177..8371886-chr8:8372466..8374646,2	K562	blood:
25	chr8:8242477..8244553-chr8:8320092..8324260,3	MCF-7	breast:
26	chr8:8242353..8245621-chr8:8412264..8415410,4	MCF-7	breast:
27	chr8:8405670..8408413-chr8:8410858..8412473,2	K562	blood:
28	chr8:8402871..8405951-chr8:8409300..8411687,3	MCF-7	breast:
29	chr8:8405511..8408091-chr8:8411497..8414103,2	MCF-7	breast:
30	chr8:8411447..8415576-chr8:8419918..8422813,4	MCF-7	breast:
31	chr8:8426650..8428995-chr8:8432055..8433956,2	MCF-7	breast:
32	chr8:8411447..8415576-chr8:8419918..8422813,4	MCF-7	breast:
33	chr8:8402871..8405951-chr8:8409300..8411687,3	MCF-7	breast:
34	chr8:8241232..8244051-chr8:8373031..8376010,3	MCF-7	breast:
35	chr8:8395034..8396944-chr8:8396976..8398934,2	MCF-7	breast:
36	chr8:8369177..8371886-chr8:8372466..8374646,2	K562	blood:
37	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:
38	chr8:8411777..8414467-chr8:8512420..8515459,3	MCF-7	breast:
39	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:
40	chr8:8361888..8365563-chr8:8365721..8369530,3	MCF-7	breast:
41	chr8:8424041..8426477-chr8:8428202..8430360,2	K562	blood:
42	chr8:8336166..8336977-chr8:8365242..8366154,6	MCF-7	breast:
43	chr8:8317642..8319537-chr8:8411427..8414292,2	MCF-7	breast:
44	chr8:8426650..8428995-chr8:8432055..8433956,2	MCF-7	breast:
45	chr8:8146302..8147264-chr8:8365295..8366108,2	MCF-7	breast:
46	chr8:8424041..8426477-chr8:8428202..8430360,2	K562	blood:
47	chr8:8147508..8148471-chr8:8365206..8366162,5	MCF-7	breast:
48	chr8:8353865..8355858-chr8:8364054..8366551,2	MCF-7	breast:
49	chr8:8373770..8375997-chr8:8384938..8387829,2	MCF-7	breast:
50	chr8:8336166..8336956-chr8:8365242..8366153,3	MCF-7	breast:

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

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

No data

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

Extended variants
information (count: 6938 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:6938 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2921054	chr8:8319925-8319926	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543114876	chr8:8319929-8319930	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2921053	chr8:8319963-8319964	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs149473608	chr8:8319966-8319967	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552785411	chr8:8320005-8320006	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559657101	chr8:8320008-8320009	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs2979179	chr8:8320029-8320030	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs190784098	chr8:8320046-8320047	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375681578	chr8:8320049-8320050	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182018519	chr8:8320069-8320070	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs2921052	chr8:8320071-8320072	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs145773553	chr8:8320079-8320080	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs371671646	chr8:8320089-8320090	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577756342	chr8:8320090-8320091	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540359027	chr8:8320093-8320094	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186236285	chr8:8320099-8320100	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2921051	chr8:8320104-8320105	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs189872802	chr8:8320116-8320117	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575209731	chr8:8320124-8320125	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544236922	chr8:8320128-8320129	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs182096290	chr8:8320130-8320131	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10113414	chr8:8320139-8320140	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556682459	chr8:8320147-8320148	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573390388	chr8:8320177-8320178	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185779617	chr8:8320178-8320179	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs367951288	chr8:8320186-8320187	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs559060552	chr8:8320193-8320194	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528799679	chr8:8320203-8320204	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs545338262	chr8:8320215-8320216	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs115747036	chr8:8320239-8320240	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531059401	chr8:8320245-8320246	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563903727	chr8:8320255-8320256	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2976877	chr8:8320259-8320260	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551187569	chr8:8320260-8320261	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533702545	chr8:8320268-8320269	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567796354	chr8:8320273-8320274	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530195788	chr8:8320290-8320291	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2980769	chr8:8320291-8320292	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs144116094	chr8:8320306-8320307	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534926362	chr8:8320309-8320310	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147335777	chr8:8320321-8320322	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369583684	chr8:8320364-8320365	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148790746	chr8:8320377-8320378	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556719186	chr8:8320386-8320387	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573427179	chr8:8320408-8320409	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs2979180	chr8:8320430-8320431	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141545946	chr8:8320431-8320432	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562987328	chr8:8320468-8320469	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552944925	chr8:8320469-8320470	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536521875	chr8:8320486-8320487	Enhancers ZNF genes & repeats Weak transcription	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:1610 , 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	chr8:8314000-8320000	Weak transcription	Esophagus	oesophagus
4	chr8:8314000-8320400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:8314000-8325400	Weak transcription	Gastric	stomach
6	chr8:8315400-8320200	Weak transcription	HSMMtube	muscle
7	chr8:8315400-8322800	Weak transcription	A549	lung
8	chr8:8317200-8320200	Enhancers	Placenta	Placenta
9	chr8:8317600-8320800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:8317800-8324000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:8318200-8320000	Enhancers	Fetal Intestine Large	intestine
12	chr8:8318200-8321800	Enhancers	Duodenum Mucosa	Duodenum
13	chr8:8318400-8320200	Enhancers	Fetal Intestine Small	intestine
14	chr8:8318600-8320000	Enhancers	Thymus	Thymus
15	chr8:8318600-8320600	Enhancers	Fetal Thymus	thymus
16	chr8:8319200-8321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:8319200-8321200	Enhancers	Dnd41	blood
18	chr8:8319400-8322800	Weak transcription	Stomach Mucosa	stomach
19	chr8:8319400-8324200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:8319400-8324200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:8319400-8324400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:8319400-8324800	Enhancers	HepG2	liver
23	chr8:8319400-8325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:8319400-8325400	Weak transcription	Pancreas	Pancrea
25	chr8:8319600-8321600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:8319600-8324200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:8319600-8324600	Weak transcription	Fetal Kidney	kidney
28	chr8:8319800-8321000	Weak transcription	Fetal Lung	lung
29	chr8:8319800-8324400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:8319800-8327000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:8320000-8320400	Weak transcription	Fetal Intestine Large	intestine
32	chr8:8320000-8320600	Enhancers	Esophagus	oesophagus
33	chr8:8320200-8321400	Weak transcription	Fetal Intestine Small	intestine
34	chr8:8320200-8321800	Enhancers	HSMMtube	muscle
35	chr8:8320200-8324600	Weak transcription	Placenta	Placenta
36	chr8:8320400-8320800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:8320400-8322000	Enhancers	Fetal Intestine Large	intestine
38	chr8:8320800-8323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:8320800-8324400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:8321000-8321800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:8321000-8321800	Enhancers	Fetal Lung	lung
42	chr8:8321400-8322000	Enhancers	Fetal Intestine Small	intestine
43	chr8:8321600-8322200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:8321800-8322800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:8321800-8323200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:8321800-8324400	Weak transcription	Fetal Lung	lung
47	chr8:8322000-8323000	Weak transcription	Fetal Intestine Small	intestine
48	chr8:8322000-8323400	Weak transcription	Fetal Intestine Large	intestine
49	chr8:8322200-8322600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:8322600-8325000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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