Variant report

Variant	nsv602954
Chromosome Location	chr6:37502585-37517485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:541)
CpG islands
(count:674)
Chromatin interactive
region (count:18)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:37515181-37515703	GM12878	blood:	n/a	n/a
2	BACH1	chr6:37503513-37503781	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:37504046-37504291	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr6:37515155-37515648	GM12878	blood:	n/a	n/a
5	BHLHE40	chr6:37505957-37506191	GM12878	blood:	n/a	n/a
6	BHLHE40	chr6:37503634-37503963	K562	blood:	n/a	n/a
7	BHLHE40	chr6:37503646-37503655	GM12878	blood:	n/a	n/a
8	CBX3	chr6:37505961-37506154	K562	blood:	n/a	n/a
9	CCNT2	chr6:37503698-37504005	K562	blood:	n/a	n/a
10	CEBPB	chr6:37505849-37506341	GM12878	blood:	n/a	n/a
11	CEBPB	chr6:37508876-37509072	A549	lung:	n/a	chr6:37508958-37508969
12	CEBPB	chr6:37517272-37518017	GM12878	blood:	n/a	n/a
13	CEBPB	chr6:37508826-37509013	K562	blood:	n/a	chr6:37508958-37508969
14	CEBPB	chr6:37508835-37509032	HepG2	liver:	n/a	chr6:37508958-37508969
15	CEBPD	chr6:37503650-37504045	K562	blood:	n/a	n/a
16	CHD2	chr6:37503772-37503851	K562	blood:	n/a	n/a
17	CHD2	chr6:37514035-37514235	GM12878	blood:	n/a	n/a
18	CHD2	chr6:37505962-37506203	GM12878	blood:	n/a	n/a
19	CTCF	chr6:37513940-37514090	AG09309	skin:	n/a	chr6:37514010-37514028 chr6:37514013-37514022 chr6:37514012-37514033
20	CTCF	chr6:37503620-37503770	GM06990	blood:	n/a	n/a
21	CTCF	chr6:37505933-37506262	IMR90	lung:	n/a	n/a
22	CTCF	chr6:37505980-37506130	HFF	foreskin:	n/a	n/a
23	CTCF	chr6:37506000-37506150	AG09309	skin:	n/a	n/a
24	CTCF	chr6:37503483-37503796	GM12892	blood:	n/a	n/a
25	CTCF	chr6:37506020-37506170	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr6:37505859-37506330	A549	lung:	n/a	n/a
27	CTCF	chr6:37505852-37506299	HepG2	liver:	n/a	n/a
28	CTCF	chr6:37506007-37506164	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr6:37506000-37506150	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr6:37506140-37506290	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr6:37505881-37506293	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr6:37503540-37503690	GM12870	blood:	n/a	n/a
33	CTCF	chr6:37506040-37506190	GM12871	blood:	n/a	n/a
34	CTCF	chr6:37505936-37506238	Gliobla	brain:	n/a	n/a
35	CTCF	chr6:37505760-37505910	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr6:37503520-37503670	HAc	cerebellar:	n/a	n/a
37	CTCF	chr6:37506000-37506150	HL-60	blood:	n/a	n/a
38	CTCF	chr6:37506000-37506150	AG04449	skin:	n/a	n/a
39	CTCF	chr6:37513925-37514144	H1-hESC	embryonic stem cell:	n/a	chr6:37514010-37514028 chr6:37514013-37514022 chr6:37514012-37514033
40	CTCF	chr6:37506016-37506183	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr6:37503524-37503742	GM10266	blood:	n/a	n/a
42	CTCF	chr6:37506043-37506101	Lung_OC	lung:	n/a	n/a
43	CTCF	chr6:37505980-37506130	HCT-116	colon:	n/a	n/a
44	CTCF	chr6:37505738-37505850	GM12891	blood:	n/a	n/a
45	CTCF	chr6:37505941-37506303	K562	blood:	n/a	n/a
46	CTCF	chr6:37513960-37514110	RPTEC	kidney:	n/a	chr6:37514010-37514028 chr6:37514013-37514022 chr6:37514012-37514033
47	CTCF	chr6:37513964-37514079	GM19239	blood:	n/a	chr6:37514010-37514028 chr6:37514013-37514022 chr6:37514012-37514033
48	CTCF	chr6:37512300-37512450	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr6:37505918-37505921	GM12892	blood:	n/a	n/a
50	CTCF	chr6:37503566-37503661	LNCaP	prostate:	n/a	n/a

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:37506304-37506354	AG04449	skin:	fetal
2	chr6:37505970-37506020	NHBE	bronchial:	n/a
3	chr6:37503610-37503660	IMR90	lung:	fetal
4	chr6:37506304-37506354	AG04449	skin:	fetal
5	chr6:37505970-37506020	NHBE	bronchial:	n/a
6	chr6:37503610-37503660	IMR90	lung:	fetal
7	chr6:37505970-37506020	HUVEC	blood vessel:	n/a
8	chr6:37504404-37504454	AG09309	skin:	n/a
9	chr6:37504118-37504168	NT2-D1	testis:	n/a
10	chr6:37504404-37504454	AG04449	skin:	fetal
11	chr6:37504118-37504168	AG09319	gingival:	n/a
12	chr6:37503074-37503124	HCT-116	colon:	n/a
13	chr6:37505970-37506020	T-47D	breast:	n/a
14	chr6:37504404-37504454	K562	blood:	n/a
15	chr6:37504404-37504454	MCF-7	breast:	n/a
16	chr6:37504484-37504534	HRCEpiC	kidney:	n/a
17	chr6:37503074-37503124	CMK	blood:	n/a
18	chr6:37504118-37504168	LNCaP	prostate:	n/a
19	chr6:37506185-37506235	NHDF-neo	bronchial:	n/a
20	chr6:37504484-37504534	AG04449	skin:	fetal
21	chr6:37503916-37503966	PANC-1	pancreas:	n/a
22	chr6:37516306-37516356	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:37503610-37503660	K562	blood:	n/a
24	chr6:37506185-37506235	HCF	heart:	n/a
25	chr6:37505970-37506020	NHDF-neo	bronchial:	n/a
26	chr6:37505970-37506020	U87	brain:	n/a
27	chr6:37504610-37504660	ECC-1	luminal epithelium:	n/a
28	chr6:37505970-37506020	NB4	blood:	n/a
29	chr6:37505970-37506020	HNPCEpiC	eye:	n/a
30	chr6:37504404-37504454	HPAEpiC	pulmonary alveolar:	n/a
31	chr6:37503074-37503124	HL-60	blood:	n/a
32	chr6:37504404-37504454	HEEpiC	esophagus:	n/a
33	chr6:37504118-37504168	HL-60	blood:	n/a
34	chr6:37504484-37504534	ECC-1	luminal epithelium:	n/a
35	chr6:37504118-37504168	HPAEpiC	pulmonary alveolar:	n/a
36	chr6:37504484-37504534	T-47D	breast:	n/a
37	chr6:37504404-37504454	GM12878	blood:	n/a
38	chr6:37506185-37506235	LNCaP	prostate:	n/a
39	chr6:37504404-37504454	NH-A	brain:	n/a
40	chr6:37504404-37504454	Caco-2	colon:	n/a
41	chr6:37506185-37506235	AG04450	lung:	fetal
42	chr6:37503074-37503124	HIPEpiC	eye:	n/a
43	chr6:37504118-37504168	HEK293	kidney:	embryo
44	chr6:37503916-37503966	A549	lung:	n/a
45	chr6:37504404-37504454	SKMC	muscle:	n/a
46	chr6:37516306-37516356	SK-N-MC	brain:	n/a
47	chr6:37504118-37504168	HCPEpiC	choroid plexus:	n/a
48	chr6:37506304-37506354	AoSMC	blood vessel:	n/a
49	chr6:37505970-37506020	HMEC	breast:	n/a
50	chr6:37504118-37504168	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr6:37505189..37507848-chr6:37513483..37515469,2	K562	blood:
2	chr6:37463764..37465711-chr6:37517339..37519147,2	K562	blood:
3	chr6:37509394..37511566-chr6:37516140..37517910,2	K562	blood:
4	chr6:37479736..37486031-chr6:37501228..37507298,5	K562	blood:
5	chr6:37477157..37479620-chr6:37505703..37507829,2	K562	blood:
6	chr6:37508230..37510650-chr6:37510862..37512774,2	K562	blood:
7	chr6:37479736..37482449-chr6:37501228..37503661,2	K562	blood:
8	chr6:37505637..37506607-chr6:37659097..37660191,6	MCF-7	breast:
9	chr6:37490506..37492969-chr6:37501083..37503155,2	K562	blood:
10	chr6:37509394..37511566-chr6:37516140..37517910,2	K562	blood:
11	chr6:37505588..37506541-chr6:37533884..37534986,5	MCF-7	breast:
12	chr6:37493732..37497248-chr6:37498273..37502656,5	K562	blood:
13	chr6:37497734..37501605-chr6:37502729..37507040,5	K562	blood:
14	chr6:37508230..37510650-chr6:37510862..37512774,2	K562	blood:
15	chr6:37514077..37516361-chr6:37517388..37519636,2	K562	blood:
16	chr6:37505371..37506520-chr6:37533735..37534780,10	MCF-7	breast:
17	chr6:37506023..37506547-chr6:37659493..37660057,3	K562	blood:
18	chr6:37495218..37497669-chr6:37504507..37506713,2	K562	blood:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC167-1	chr6:37514203-37514531	ENSG00000229559
2	lnc-FTSJD2-1	chr6:37503308-37506306	ENSG00000204110.5
3	lnc-CCDC167-1	chr6:37513523-37513574	ENSG00000229559
4	lnc-AL353597.1-3	chr6:37512921-37513189	ENSG00000227920.2
5	lnc-AL353597.1-3	chr6:37513931-37514021	ENSG00000227920.2
6	lnc-FTSJD2-1	chr6:37508803-37509166	ENSG00000204110.5
7	lnc-FTSJD2-1	chr6:37507452-37507498	XLOC_005278
8	lnc-CCDC167-1	chr6:37514851-37515056	NONHSAT112270
9	lnc-FTSJD2-1	chr6:37508891-37509130	XLOC_005278
10	lnc-FTSJD2-1	chr6:37502709-37502733	ENSG00000204110.5
11	lnc-FTSJD2-1	chr6:37503308-37503392	ENSG00000204110.5
12	lnc-FTSJD2-1	chr6:37502709-37502733	ENSG00000204110.5
13	lnc-FTSJD2-1	chr6:37502709-37502733	XLOC_005278
14	lnc-AL353597.1-3	chr6:37516759-37518195	NONHSAT112271
15	lnc-AL353597.1-3	chr6:37516822-37516991	ENSG00000227920.2
16	lnc-CCDC167-1	chr6:37514367-37514533	NONHSAT112270
17	lnc-FTSJD2-1	chr6:37502721-37502733	XLOC_005278
18	lnc-FTSJD2-1	chr6:37503308-37509148	XLOC_005278
19	lnc-CCDC167-1	chr6:37511329-37511682	ENSG00000229559
20	lnc-FTSJD2-1	chr6:37502726-37502733	XLOC_005278
21	lnc-FTSJD2-1	chr6:37503308-37503665	XLOC_005278
22	lnc-FTSJD2-1	chr6:37503308-37503665	XLOC_005278

No data

Variant related genes	Relation type
ENSG00000229559	TF binding region
ENSG00000227920	TF binding region
ENSG00000229559	CpG island
ENSG00000227920	CpG island
ENSG00000229559	chromatin interactions

Extended variants
information (count: 597 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1317487	chr6:37502585-37502586	Bivalent Enhancer Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527992390	chr6:37502588-37502589	Bivalent Enhancer Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145467734	chr6:37502589-37502590	Bivalent Enhancer Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560566217	chr6:37502643-37502644	Bivalent Enhancer Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373355288	chr6:37502674-37502675	Bivalent Enhancer Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189811982	chr6:37502719-37502720	Bivalent Enhancer Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs11968168	chr6:37502869-37502870	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532484936	chr6:37502892-37502893	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562598800	chr6:37502898-37502899	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531407858	chr6:37502901-37502902	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372729802	chr6:37502905-37502906	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551560357	chr6:37502920-37502921	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546320037	chr6:37502968-37502969	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527552377	chr6:37503017-37503018	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547691047	chr6:37503107-37503108	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567590153	chr6:37503178-37503179	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562938211	chr6:37503208-37503209	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs868870	chr6:37503233-37503234	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181456452	chr6:37503303-37503304	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538858404	chr6:37503308-37503309	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs534513518	chr6:37503349-37503350	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs554503487	chr6:37503410-37503411	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs369575501	chr6:37503431-37503432	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs541353526	chr6:37503514-37503515	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs367711069	chr6:37503522-37503523	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs573601994	chr6:37503541-37503542	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs574357452	chr6:37503555-37503556	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs546526183	chr6:37503556-37503557	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs562450940	chr6:37503670-37503671	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs543052675	chr6:37503719-37503720	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs371288343	chr6:37503740-37503741	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs545243022	chr6:37503840-37503841	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs77267791	chr6:37503863-37503864	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs115452109	chr6:37503881-37503882	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs547758083	chr6:37503893-37503894	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs567550722	chr6:37503958-37503959	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs530045679	chr6:37503969-37503970	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs548382671	chr6:37503981-37503982	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs144305601	chr6:37504007-37504008	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs538719231	chr6:37504020-37504021	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs558606103	chr6:37504024-37504025	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs2797782	chr6:37504036-37504037	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs534885906	chr6:37504080-37504081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs376489187	chr6:37504092-37504093	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs147389205	chr6:37504118-37504119	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs575035392	chr6:37504181-37504182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs542272062	chr6:37504187-37504188	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs556095521	chr6:37504201-37504202	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs1573133	chr6:37504205-37504206	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs545157051	chr6:37504257-37504258	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37491000-37503000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:37493800-37514000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:37495200-37503000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:37496800-37503200	Weak transcription	GM12878-XiMat	blood
5	chr6:37499600-37502800	Enhancers	Fetal Brain Male	brain
6	chr6:37500000-37502800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:37500800-37503400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:37501400-37503600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:37501600-37503400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:37501800-37502800	Enhancers	Fetal Brain Female	brain
11	chr6:37502000-37502800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:37502000-37503400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:37502000-37503400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr6:37502000-37504400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:37502200-37503000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:37502800-37503000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr6:37502800-37503000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr6:37502800-37503200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr6:37502800-37503200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:37502800-37503200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:37502800-37503200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:37502800-37503200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:37502800-37503200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
24	chr6:37502800-37503400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr6:37502800-37503400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
26	chr6:37502800-37503400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:37502800-37503400	Bivalent Enhancer	Fetal Brain Female	brain
28	chr6:37502800-37503600	Bivalent Enhancer	Fetal Stomach	stomach
29	chr6:37502800-37503800	Bivalent Enhancer	Fetal Kidney	kidney
30	chr6:37502800-37504000	Bivalent Enhancer	Fetal Brain Male	brain
31	chr6:37502800-37505800	Bivalent Enhancer	Fetal Lung	lung
32	chr6:37503000-37503200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr6:37503000-37503200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr6:37503000-37503200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:37503000-37503400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:37503000-37503400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:37503000-37503400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
38	chr6:37503000-37503400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr6:37503000-37503400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr6:37503000-37503400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr6:37503000-37503400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr6:37503000-37503400	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr6:37503000-37503400	Bivalent Enhancer	Colon Smooth Muscle	Colon
44	chr6:37503000-37503600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr6:37503000-37503600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:37503000-37503800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:37503000-37503800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr6:37503000-37504000	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr6:37503000-37504000	Bivalent Enhancer	Fetal Thymus	thymus
50	chr6:37503200-37503400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links