Variant report

Variant	nsv532282
Chromosome Location	chr18:7115075-7608218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3346)
CpG islands
(count:1953)
Chromatin interactive
region (count:78)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3346 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:7575137-7575406	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:7567223-7567257	K562	blood:	n/a	n/a
3	ARID3A	chr18:7272482-7272549	HepG2	liver:	n/a	n/a
4	ARID3A	chr18:7567159-7567359	HepG2	liver:	n/a	n/a
5	ARID3A	chr18:7221435-7221630	HepG2	liver:	n/a	n/a
6	ARID3A	chr18:7177250-7177419	HepG2	liver:	n/a	n/a
7	ATF1	chr18:7312250-7312257	K562	blood:	n/a	n/a
8	ATF1	chr18:7132553-7132560	K562	blood:	n/a	n/a
9	ATF2	chr18:7577712-7578133	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr18:7577742-7578206	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr18:7467741-7468000	K562	blood:	n/a	n/a
12	ATF3	chr18:7567156-7567368	K562	blood:	n/a	chr18:7567347-7567356 chr18:7567273-7567283
13	ATF3	chr18:7467727-7468106	HepG2	liver:	n/a	n/a
14	BACH1	chr18:7566548-7566660	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr18:7116400-7117142	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr18:7118078-7118189	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr18:7566904-7567617	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr18:7367519-7367591	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr18:7575526-7576005	H1-hESC	embryonic stem cell:	n/a	chr18:7575877-7575891
20	BACH1	chr18:7542025-7542029	K562	blood:	n/a	n/a
21	BACH1	chr18:7568581-7568843	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr18:7117579-7117851	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL11A	chr18:7577811-7577975	H1-hESC	embryonic stem cell:	n/a	n/a
24	BHLHE40	chr18:7317788-7318028	HepG2	liver:	n/a	n/a
25	BHLHE40	chr18:7566784-7567400	HepG2	liver:	n/a	chr18:7567340-7567356 chr18:7567117-7567133
26	BHLHE40	chr18:7467767-7468063	K562	blood:	n/a	n/a
27	BHLHE40	chr18:7567045-7567395	GM12878	blood:	n/a	chr18:7567340-7567356 chr18:7567117-7567133
28	BHLHE40	chr18:7164647-7164942	K562	blood:	n/a	n/a
29	BHLHE40	chr18:7202966-7203132	K562	blood:	n/a	chr18:7203078-7203087 chr18:7203078-7203087 chr18:7203072-7203093 chr18:7203077-7203086 chr18:7203076-7203089
30	BHLHE40	chr18:7520471-7520649	GM12878	blood:	n/a	chr18:7520557-7520566 chr18:7520557-7520566
31	BHLHE40	chr18:7467750-7468067	HepG2	liver:	n/a	n/a
32	BHLHE40	chr18:7566522-7567366	K562	blood:	n/a	chr18:7567340-7567356 chr18:7566691-7566707 chr18:7567117-7567133
33	BHLHE40	chr18:7177115-7177352	GM12878	blood:	n/a	n/a
34	BHLHE40	chr18:7575112-7575466	HepG2	liver:	n/a	n/a
35	BHLHE40	chr18:7520520-7520629	K562	blood:	n/a	chr18:7520557-7520566 chr18:7520557-7520566
36	BHLHE40	chr18:7520517-7520690	HepG2	liver:	n/a	chr18:7520557-7520566 chr18:7520557-7520566
37	BHLHE40	chr18:7459819-7460275	HepG2	liver:	n/a	n/a
38	BRCA1	chr18:7151072-7151110	GM12878	blood:	n/a	n/a
39	BRCA1	chr18:7303527-7303574	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr18:7414190-7414195	GM12878	blood:	n/a	n/a
41	BRCA1	chr18:7458169-7458192	GM12878	blood:	n/a	n/a
42	BRCA1	chr18:7566113-7566632	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr18:7452418-7452638	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr18:7221518-7221712	HepG2	liver:	n/a	n/a
45	BRCA1	chr18:7132805-7133551	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr18:7174539-7174936	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr18:7166804-7166827	Hela-S3	cervix:	n/a	n/a
48	CCNT2	chr18:7566537-7567551	K562	blood:	n/a	n/a
49	CEBPB	chr18:7584176-7584177	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr18:7545802-7546128	IMR90	lung:	n/a	n/a

(count:1953 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:7568891-7568941	GM12891	blood:	n/a
2	chr18:7568891-7568941	GM12891	blood:	n/a
3	chr18:7568891-7568941	NB4	blood:	n/a
4	chr18:7231086-7231136	NH-A	brain:	n/a
5	chr18:7116550-7116600	Hepatocyte	liver:	n/a
6	chr18:7563847-7563897	HL-60	blood:	n/a
7	chr18:7229726-7229776	HAEpiC	amniotic membrane:	n/a
8	chr18:7231037-7231087	GM19239	blood:	n/a
9	chr18:7117790-7117840	ECC-1	luminal epithelium:	n/a
10	chr18:7231037-7231087	LNCaP	prostate:	n/a
11	chr18:7116550-7116600	NHBE	bronchial:	n/a
12	chr18:7231037-7231087	Jurkat	blood:	n/a
13	chr18:7117790-7117840	SKMC	muscle:	n/a
14	chr18:7568265-7568315	HCT-116	colon:	n/a
15	chr18:7566258-7566308	SKMC	muscle:	n/a
16	chr18:7568829-7568879	AG04449	skin:	fetal
17	chr18:7567638-7567688	HCF	heart:	n/a
18	chr18:7116550-7116600	HEK293	kidney:	embryo
19	chr18:7118122-7118172	HIPEpiC	eye:	n/a
20	chr18:7231534-7231584	SAEC	small airway:	n/a
21	chr18:7231086-7231136	A549	lung:	n/a
22	chr18:7231037-7231087	GM12892	blood:	n/a
23	chr18:7116977-7117027	SK-N-SH_RA	brain:	n/a
24	chr18:7230245-7230295	ovcar-3	ovarian:	n/a
25	chr18:7568159-7568209	HCT-116	colon:	n/a
26	chr18:7117321-7117371	MCF-7	breast:	n/a
27	chr18:7118092-7118142	SK-N-SH_RA	brain:	n/a
28	chr18:7118077-7118127	AG04449	skin:	fetal
29	chr18:7563847-7563897	RPTEC	kidney:	n/a
30	chr18:7117680-7117730	HCT-116	colon:	n/a
31	chr18:7231037-7231087	ovcar-3	ovarian:	n/a
32	chr18:7116977-7117027	PANC-1	pancreas:	n/a
33	chr18:7568186-7568236	HCPEpiC	choroid plexus:	n/a
34	chr18:7230245-7230295	NB4	blood:	n/a
35	chr18:7117790-7117840	GM06990	blood:	n/a
36	chr18:7568829-7568879	HRCEpiC	kidney:	n/a
37	chr18:7116700-7116750	ovcar-3	ovarian:	n/a
38	chr18:7117680-7117730	PrEC	prostate:	n/a
39	chr18:7567799-7567849	NH-A	brain:	n/a
40	chr18:7117680-7117730	HCPEpiC	choroid plexus:	n/a
41	chr18:7567717-7567767	SK-N-SH_RA	brain:	n/a
42	chr18:7567717-7567767	AG09319	gingival:	n/a
43	chr18:7117790-7117840	GM19239	blood:	n/a
44	chr18:7568186-7568236	HUVEC	blood vessel:	n/a
45	chr18:7568186-7568236	AoSMC	blood vessel:	n/a
46	chr18:7230245-7230295	NT2-D1	testis:	n/a
47	chr18:7117321-7117371	HRPEpiC	eye:	n/a
48	chr18:7567426-7567476	HMEC	breast:	n/a
49	chr18:7566781-7566831	HUVEC	blood vessel:	n/a
50	chr18:7229726-7229776	MCF10A-Er-Src	breast:	n/a

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:7509867..7511990-chr18:7516061..7517678,2	MCF-7	breast:
2	chr17:56707566..56710325-chr18:7281315..7284315,3	K562	blood:
3	chr18:7328260..7329783-chr18:7331392..7333431,2	K562	blood:
4	chr18:7221690..7222309-chr18:7566824..7567430,2	K562	blood:
5	chr18:7485561..7489531-chr18:7490547..7493519,3	K562	blood:
6	chr18:7279579..7281833-chr18:7286057..7288878,2	K562	blood:
7	chr18:7485561..7488328-chr18:7489989..7493519,3	K562	blood:
8	chr18:7581543..7584440-chr18:7588046..7590216,2	K562	blood:
9	chr18:7237095..7238838-chr18:7283799..7285892,2	K562	blood:
10	chr18:7561940..7563899-chr18:7566456..7568145,3	K562	blood:
11	chr18:7560178..7562976-chr18:7564673..7567118,2	MCF-7	breast:
12	chr18:7555198..7557360-chr18:7558467..7560228,2	K562	blood:
13	chr18:7121851..7123604-chr18:7131611..7134051,2	MCF-7	breast:
14	chr18:7556771..7559463-chr18:7563687..7565562,2	K562	blood:
15	chr1:117064094..117064942-chr18:7200217..7200777,2	MCF-7	breast:
16	chr18:7237095..7238838-chr18:7283799..7285892,2	K562	blood:
17	chr18:7272328..7273061-chr18:7451989..7452918,2	MCF-7	breast:
18	chr18:7305816..7308411-chr18:7309437..7311402,2	K562	blood:
19	chr18:7556771..7559463-chr18:7563687..7565562,2	K562	blood:
20	chr18:7601321..7603533-chr18:7605983..7608690,2	K562	blood:
21	chr18:7555198..7557360-chr18:7558467..7560228,2	K562	blood:
22	chr18:7209942..7211874-chr18:7214063..7215628,2	K562	blood:
23	chr18:7022373..7023231-chr18:7176885..7177438,2	MCF-7	breast:
24	chr18:7560671..7563899-chr18:7566458..7568145,4	K562	blood:
25	chr18:7509867..7511990-chr18:7516061..7517678,2	MCF-7	breast:
26	chr18:7603792..7606517-chr18:7606532..7608686,2	K562	blood:
27	chr18:7271986..7272913-chr18:7349191..7350194,3	MCF-7	breast:
28	chr18:6919702..6920513-chr18:7174601..7175401,4	MCF-7	breast:
29	chr18:7489323..7491482-chr18:7507564..7509092,2	K562	blood:
30	chr18:7113301..7115369-chr18:7117851..7120461,2	K562	blood:
31	chr18:7038272..7039307-chr18:7176844..7177405,3	K562	blood:
32	chr18:7272078..7272898-chr18:7626542..7627160,2	MCF-7	breast:
33	chr18:7209942..7211874-chr18:7214063..7215628,2	K562	blood:
34	chr18:7037921..7038842-chr18:7174709..7175338,3	MCF-7	breast:
35	chr18:7121851..7123604-chr18:7131611..7134051,2	MCF-7	breast:
36	chr18:7277126..7280164-chr18:7281807..7285178,3	K562	blood:
37	chr18:7113301..7115369-chr18:7117851..7120461,2	K562	blood:
38	chr18:6886014..6886839-chr18:7176913..7177416,2	MCF-7	breast:
39	chr18:7606732..7608524-chr18:7612003..7613987,2	K562	blood:
40	chr18:7279579..7281833-chr18:7286057..7288878,2	K562	blood:
41	chr18:7122361..7123186-chr18:7164345..7164887,2	MCF-7	breast:
42	chr18:7514458..7516129-chr18:7523489..7525604,2	K562	blood:
43	chr18:7168069..7170291-chr18:7171310..7174194,2	K562	blood:
44	chr18:7271947..7272868-chr18:8480276..8481083,2	MCF-7	breast:
45	chr18:7489323..7491482-chr18:7507564..7509092,2	K562	blood:
46	chr18:7485561..7488328-chr18:7489989..7493519,3	K562	blood:
47	chr18:7277126..7280164-chr18:7281807..7285178,3	K562	blood:
48	chr18:7251040..7252681-chr18:7255832..7258659,2	K562	blood:
49	chr18:7581543..7584440-chr18:7588046..7590216,2	K562	blood:
50	chr18:7305816..7308411-chr18:7309437..7311402,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LAMA1-4	chr18:7508432-7508885	XLOC_012749
2	lnc-LAMA1-6	chr18:7133440-7133733	NONHSAT057154
3	lnc-LAMA1-7	chr18:7223429-7223722	l_1518_chr18:7222289-7223722_skeltalMuscle
4	lnc-LRRC30-1	chr18:7276659-7277412	XLOC_012621
5	lnc-LAMA1-7	chr18:7222290-7222419	l_1518_chr18:7222289-7223722_skeltalMuscle
6	lnc-LAMA1-4	chr18:7509140-7509419	XLOC_012749
7	lnc-LAMA1-7	chr18:7222430-7222682	l_1518_chr18:7222289-7223722_skeltalMuscle
8	lnc-LAMA1-4	chr18:7508970-7509053	XLOC_012749
9	lnc-LRRC30-1	chr18:7272467-7272498	XLOC_012621
10	lnc-LAMA1-6	chr18:7130952-7131151	NONHSAT057154

No data

Variant related genes	Relation type
PTPRM	TF binding region
LRRC30	TF binding region
ENSG00000212626	TF binding region
SLC25A51P2	TF binding region
LAMA1	TF binding region
PTPRM	CpG island
LRRC30	CpG island
ENSG00000212626	CpG island
SLC25A51P2	CpG island
LAMA1	CpG island
ENSG00000212195	chromatin interactions
ENSG00000149658	chromatin interactions
ENSG00000173482	chromatin interactions
TP53INP1	miRNA target sites

Extended variants
information (count: 17497 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:17497 , 50 per page) page: 1 2 3 4 5 6 7 ... 350

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377238194	chr18:7115178-7115179	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs559287005	chr18:7115210-7115211	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528218414	chr18:7115218-7115219	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551456192	chr18:7115227-7115228	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144028672	chr18:7115244-7115245	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533309381	chr18:7115351-7115352	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550078291	chr18:7115388-7115389	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182413158	chr18:7115414-7115415	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs111988592	chr18:7115543-7115544	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs12326977	chr18:7115552-7115553	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs186749621	chr18:7115563-7115564	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs146459130	chr18:7115574-7115575	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs139912268	chr18:7115596-7115597	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs569686106	chr18:7115656-7115657	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs555517254	chr18:7115668-7115669	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111749663	chr18:7115669-7115670	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs566062124	chr18:7115698-7115699	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534810785	chr18:7115705-7115706	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs558239981	chr18:7115708-7115709	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192050858	chr18:7115718-7115719	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs80199417	chr18:7115726-7115727	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs371280527	chr18:7115805-7115806	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546493094	chr18:7115811-7115812	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71360065	chr18:7115812-7115813	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558469825	chr18:7115813-7115814	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557585224	chr18:7115814-7115815	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs58813825	chr18:7115817-7115818	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374186129	chr18:7115818-7115819	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543613272	chr18:7115842-7115843	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111403622	chr18:7115846-7115847	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35984393	chr18:7115856-7115857	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573888259	chr18:7115898-7115899	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368387058	chr18:7115959-7115960	Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544305041	chr18:7116050-7116051	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572751880	chr18:7116059-7116060	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544712843	chr18:7116100-7116101	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564606197	chr18:7116132-7116133	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140358014	chr18:7116147-7116148	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549995078	chr18:7116175-7116176	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563529781	chr18:7116178-7116179	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529606367	chr18:7116179-7116180	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549605639	chr18:7116181-7116182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565948068	chr18:7116230-7116231	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113642204	chr18:7116246-7116247	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534980573	chr18:7116276-7116277	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551925356	chr18:7116289-7116290	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181222562	chr18:7116297-7116298	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530627601	chr18:7116300-7116301	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372259219	chr18:7116350-7116351	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549117086	chr18:7116390-7116391	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Breast cancer	17133270	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute myeloid leukemia	17377590	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4372 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7105000-7116000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:7111600-7116000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:7111800-7116000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:7112200-7115600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:7112400-7116000	Weak transcription	HMEC	breast
6	chr18:7113200-7115400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:7113200-7116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:7113400-7115600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr18:7113400-7115800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr18:7113400-7116000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:7113400-7116000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr18:7113600-7116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:7113600-7116000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr18:7113600-7116000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:7113800-7115800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:7114800-7115200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:7115200-7115400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:7115400-7115600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr18:7115400-7116000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:7115400-7118400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:7115600-7115800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:7115800-7116000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr18:7115800-7116000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr18:7115800-7116000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:7115800-7116200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:7115800-7116200	Bivalent Enhancer	Fetal Brain Male	brain
27	chr18:7115800-7118400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:7115800-7118400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr18:7116000-7116200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr18:7116000-7116200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr18:7116000-7116200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr18:7116000-7116200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:7116000-7116200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
34	chr18:7116000-7116200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:7116000-7116200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:7116000-7116200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:7116000-7116200	Bivalent Enhancer	Adipose Nuclei	Adipose
38	chr18:7116000-7116200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
39	chr18:7116000-7116200	Active TSS	Brain Germinal Matrix	brain
40	chr18:7116000-7116200	Bivalent Enhancer	Colon Smooth Muscle	Colon
41	chr18:7116000-7116200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr18:7116000-7116200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr18:7116000-7116200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
44	chr18:7116000-7116200	Bivalent/Poised TSS	Fetal Heart	heart
45	chr18:7116000-7116200	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr18:7116000-7116200	Bivalent Enhancer	Fetal Lung	lung
47	chr18:7116000-7116200	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr18:7116000-7116200	Bivalent Enhancer	Right Ventricle	heart
49	chr18:7116000-7116200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr18:7116000-7116200	Flanking Active TSS	HMEC	breast

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