Variant report

Variant	nsv549549
Chromosome Location	chr1:247275215-247293214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:836)
CpG islands
(count:1102)
Chromatin interactive
region (count:24)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:247275900-247276723	HepG2	liver:	n/a	n/a
2	ATF2	chr1:247282209-247282493	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr1:247282166-247282519	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:247275257-247275476	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:247276594-247276742	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:247275291-247275489	K562	blood:	n/a	n/a
7	BATF	chr1:247289652-247289887	GM12878	blood:	n/a	n/a
8	BCL11A	chr1:247289613-247289860	GM12878	blood:	n/a	chr1:247289660-247289673 chr1:247289814-247289827
9	BCL11A	chr1:247290186-247290402	GM12878	blood:	n/a	n/a
10	BCL11A	chr1:247289560-247289964	GM12878	blood:	n/a	chr1:247289597-247289605 chr1:247289660-247289673 chr1:247289814-247289827
11	BHLHE40	chr1:247274839-247275896	HepG2	liver:	n/a	chr1:247275614-247275630
12	BHLHE40	chr1:247289249-247289254	GM12878	blood:	n/a	n/a
13	BHLHE40	chr1:247289527-247289878	HepG2	liver:	n/a	chr1:247289814-247289830 chr1:247289811-247289827
14	BHLHE40	chr1:247274816-247275552	K562	blood:	n/a	n/a
15	BHLHE40	chr1:247275761-247275831	K562	blood:	n/a	n/a
16	BHLHE40	chr1:247282190-247282604	HepG2	liver:	n/a	n/a
17	BHLHE40	chr1:247276350-247276737	HepG2	liver:	n/a	n/a
18	BRCA1	chr1:247275122-247275252	HepG2	liver:	n/a	n/a
19	BRCA1	chr1:247276484-247276640	HepG2	liver:	n/a	n/a
20	BRCA1	chr1:247275738-247275926	HepG2	liver:	n/a	n/a
21	CBX3	chr1:247274963-247275912	K562	blood:	n/a	n/a
22	CBX3	chr1:247280963-247282452	K562	blood:	n/a	n/a
23	CBX3	chr1:247279956-247280480	K562	blood:	n/a	n/a
24	CBX3	chr1:247280516-247280801	K562	blood:	n/a	n/a
25	CBX3	chr1:247290086-247290284	K562	blood:	n/a	n/a
26	CBX3	chr1:247278814-247282541	K562	blood:	n/a	n/a
27	CBX3	chr1:247279022-247279825	K562	blood:	n/a	n/a
28	CBX3	chr1:247289444-247289894	K562	blood:	n/a	n/a
29	CCNT2	chr1:247288386-247288451	K562	blood:	n/a	n/a
30	CCNT2	chr1:247273918-247275918	K562	blood:	n/a	n/a
31	CEBPB	chr1:247288518-247288799	K562	blood:	n/a	chr1:247288661-247288672
32	CEBPB	chr1:247288526-247288840	H1-hESC	embryonic stem cell:	n/a	chr1:247288661-247288672
33	CEBPB	chr1:247288527-247288747	HepG2	liver:	n/a	chr1:247288661-247288672
34	CEBPD	chr1:247274982-247275541	HepG2	liver:	n/a	n/a
35	CEBPD	chr1:247290667-247291211	K562	blood:	n/a	n/a
36	CEBPD	chr1:247276327-247276598	HepG2	liver:	n/a	n/a
37	CEBPD	chr1:247289599-247289921	K562	blood:	n/a	n/a
38	CEBPD	chr1:247275082-247275591	K562	blood:	n/a	n/a
39	CHD2	chr1:247282281-247282544	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr1:247275082-247275678	HepG2	liver:	n/a	n/a
41	CHD2	chr1:247285987-247286131	K562	blood:	n/a	n/a
42	CHD2	chr1:247275334-247275404	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr1:247275222-247275495	K562	blood:	n/a	n/a
44	CTCF	chr1:247282400-247282550	GM12864	blood:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
45	CTCF	chr1:247282300-247282450	HPF	lung:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
46	CTCF	chr1:247282294-247282448	Medullo	brain:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
47	CTCF	chr1:247277558-247277570	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:247282275-247282461	LNCaP	prostate:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
49	CTCF	chr1:247282320-247282470	GM12864	blood:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
50	CTCF	chr1:247282231-247282648	MCF-7	breast:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327

(count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247275326-247275376	ECC-1	luminal epithelium:	n/a
2	chr1:247276966-247277016	RPTEC	kidney:	n/a
3	chr1:247276966-247277016	PFSK-1	brain:	n/a
4	chr1:247275872-247275922	HRPEpiC	eye:	n/a
5	chr1:247275326-247275376	ECC-1	luminal epithelium:	n/a
6	chr1:247276966-247277016	RPTEC	kidney:	n/a
7	chr1:247276966-247277016	PFSK-1	brain:	n/a
8	chr1:247275872-247275922	HRPEpiC	eye:	n/a
9	chr1:247285935-247285985	NT2-D1	testis:	n/a
10	chr1:247275872-247275922	AoSMC	blood vessel:	n/a
11	chr1:247291374-247291424	Caco-2	colon:	n/a
12	chr1:247291374-247291424	AG04450	lung:	fetal
13	chr1:247276552-247276602	PrEC	prostate:	n/a
14	chr1:247276096-247276146	ProgFib	skin:	n/a
15	chr1:247291374-247291424	HCT-116	colon:	n/a
16	chr1:247276647-247276697	AG09319	gingival:	n/a
17	chr1:247275735-247275785	T-47D	breast:	n/a
18	chr1:247275998-247276048	PrEC	prostate:	n/a
19	chr1:247279205-247279255	ProgFib	skin:	n/a
20	chr1:247275344-247275394	NB4	blood:	n/a
21	chr1:247276647-247276697	GM06990	blood:	n/a
22	chr1:247276552-247276602	MCF-7	breast:	n/a
23	chr1:247275344-247275394	HCPEpiC	choroid plexus:	n/a
24	chr1:247275469-247275519	HCF	heart:	n/a
25	chr1:247276552-247276602	HCF	heart:	n/a
26	chr1:247276552-247276602	NHBE	bronchial:	n/a
27	chr1:247275998-247276048	AG09319	gingival:	n/a
28	chr1:247276552-247276602	MCF10A-Er-Src	breast:	n/a
29	chr1:247275542-247275592	HCF	heart:	n/a
30	chr1:247276096-247276146	HCM	heart:	n/a
31	chr1:247275542-247275592	GM12892	blood:	n/a
32	chr1:247276552-247276602	NHDF-neo	bronchial:	n/a
33	chr1:247275735-247275785	HMEC	breast:	n/a
34	chr1:247275735-247275785	NHBE	bronchial:	n/a
35	chr1:247275469-247275519	SAEC	small airway:	n/a
36	chr1:247275344-247275394	HEEpiC	esophagus:	n/a
37	chr1:247276552-247276602	RPTEC	kidney:	n/a
38	chr1:247285935-247285985	PrEC	prostate:	n/a
39	chr1:247275998-247276048	BJ	skin:	n/a
40	chr1:247275998-247276048	SK-N-MC	brain:	n/a
41	chr1:247285935-247285985	GM06990	blood:	n/a
42	chr1:247285935-247285985	NHDF-neo	bronchial:	n/a
43	chr1:247278828-247278878	K562	blood:	n/a
44	chr1:247275542-247275592	GM12891	blood:	n/a
45	chr1:247275326-247275376	ovcar-3	ovarian:	n/a
46	chr1:247282458-247282508	GM19239	blood:	n/a
47	chr1:247275872-247275922	NH-A	brain:	n/a
48	chr1:247275872-247275922	RPTEC	kidney:	n/a
49	chr1:247275808-247275858	RPTEC	kidney:	n/a
50	chr1:247275542-247275592	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
2	chr1:247291385..247292961-chr1:247332715..247334283,2	MCF-7	breast:
3	chr1:247291043..247292946-chr1:247332755..247334621,3	MCF-7	breast:
4	chr1:247289580..247291356-chr1:247334098..247335622,2	MCF-7	breast:
5	chr1:247271757..247273641-chr1:247273728..247275536,3	MCF-7	breast:
6	chr1:247274786..247276587-chr1:247277453..247279795,2	MCF-7	breast:
7	chr1:247273239..247275061-chr1:247277041..247280302,3	K562	blood:
8	chr1:247241483..247244418-chr1:247273727..247276454,2	MCF-7	breast:
9	chr1:247256992..247261249-chr1:247272069..247275489,5	K562	blood:
10	chr1:247274493..247276812-chr1:247371838..247375899,3	K562	blood:
11	chr1:247289823..247292787-chr1:247327556..247329184,2	K562	blood:
12	chr1:247275409..247277041-chr1:247418740..247421372,2	K562	blood:
13	chr1:247261271..247263933-chr1:247276366..247278097,2	K562	blood:
14	chr1:247241666..247243646-chr1:247278123..247279948,2	K562	blood:
15	chr1:247240305..247243596-chr1:247273338..247276480,4	K562	blood:
16	chr1:247276067..247278651-chr1:247493890..247496062,2	MCF-7	breast:
17	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
18	chr1:247291341..247292905-chr1:247330458..247334056,3	K562	blood:
19	chr1:247270781..247273183-chr1:247283776..247285390,2	MCF-7	breast:
20	chr1:247289906..247291409-chr1:247327499..247329050,2	K562	blood:
21	chr1:247092146..247096759-chr1:247274350..247278356,6	MCF-7	breast:
22	chr1:247262370..247270931-chr1:247272613..247278774,19	MCF-7	breast:
23	chr1:247285727..247286228-chr3:81753505..81754005,2	NB4	blood:
24	chr1:247291347..247292905-chr1:247330458..247332447,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP3-9	chr1:247282971-247283580	NONHSAT010752
2	lnc-C1orf229-2	chr1:247285278-247287173	NONHSAT010753

No data

Variant related genes	Relation type
C1orf229	TF binding region
FGFR3P6	TF binding region
C1orf229	CpG island
FGFR3P6	CpG island
ENSG00000162714	chromatin interactions
ENSG00000227671	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000221953	chromatin interactions
ENSG00000197617	chromatin interactions
ENSG00000196418	chromatin interactions
ENSG00000135747	chromatin interactions
ENSG00000188295	chromatin interactions

Extended variants
information (count: 760 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141557009	chr1:247275218-247275219	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs535567878	chr1:247275368-247275369	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs200639019	chr1:247275372-247275373	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs369551959	chr1:247275400-247275401	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs555168373	chr1:247275435-247275436	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs565380347	chr1:247275458-247275459	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs372879856	chr1:247275505-247275506	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs534324936	chr1:247275532-247275533	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs536839631	chr1:247275534-247275535	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs557283154	chr1:247275574-247275575	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs184202826	chr1:247275593-247275594	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs375708821	chr1:247275603-247275604	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs546051471	chr1:247275630-247275631	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs111458872	chr1:247275672-247275673	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs374527736	chr1:247275680-247275681	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs542355289	chr1:247275745-247275746	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs377634770	chr1:247275823-247275824	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs201454028	chr1:247275852-247275853	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs527741108	chr1:247275872-247275873	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs77398773	chr1:247275876-247275877	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs370154168	chr1:247275905-247275906	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs374179291	chr1:247275931-247275932	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs576599677	chr1:247275938-247275939	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs139056736	chr1:247275943-247275944	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs188093109	chr1:247276020-247276021	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs55649449	chr1:247276039-247276040	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142222031	chr1:247276154-247276155	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs529071293	chr1:247276220-247276221	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs549123183	chr1:247276244-247276245	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs142673153	chr1:247276269-247276270	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs534384030	chr1:247276301-247276302	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs10924922	chr1:247276330-247276331	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570894246	chr1:247276338-247276339	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs548574961	chr1:247276340-247276341	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs6426220	chr1:247276394-247276395	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs114865103	chr1:247276405-247276406	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs10924923	chr1:247276411-247276412	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545081614	chr1:247276433-247276434	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs535675114	chr1:247276455-247276456	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs555969422	chr1:247276476-247276477	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs116388906	chr1:247276489-247276490	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs541522700	chr1:247276516-247276517	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs7513134	chr1:247276523-247276524	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs150576171	chr1:247276524-247276525	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs543743758	chr1:247276595-247276596	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs563447839	chr1:247276615-247276616	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs529137334	chr1:247276617-247276618	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs548924795	chr1:247276648-247276649	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs559086380	chr1:247276721-247276722	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs371432946	chr1:247276762-247276763	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247268400-247275600	Weak transcription	Fetal Heart	heart
2	chr1:247273800-247276000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:247273800-247276000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:247274000-247275400	Active TSS	NHLF	lung
5	chr1:247274000-247275600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:247274000-247275600	Active TSS	Fetal Kidney	kidney
7	chr1:247274000-247275600	Active TSS	Psoas Muscle	Psoas
8	chr1:247274000-247275800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr1:247274000-247275800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:247274000-247275800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:247274000-247275800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:247274000-247275800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:247274000-247275800	Active TSS	HSMMtube	muscle
14	chr1:247274000-247276000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:247274000-247276000	Active TSS	Brain Germinal Matrix	brain
16	chr1:247274000-247276000	Active TSS	Rectal Smooth Muscle	rectum
17	chr1:247274200-247275400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr1:247274200-247275400	Active TSS	Ovary	ovary
19	chr1:247274200-247275600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:247274200-247275600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:247274200-247275600	Active TSS	Esophagus	oesophagus
22	chr1:247274200-247275600	Bivalent/Poised TSS	Small Intestine	intestine
23	chr1:247274200-247275800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:247274200-247275800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:247274200-247275800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:247274200-247275800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr1:247274200-247275800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
28	chr1:247274200-247275800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:247274200-247275800	Active TSS	Aorta	Aorta
30	chr1:247274200-247275800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:247274200-247275800	Active TSS	Gastric	stomach
32	chr1:247274200-247275800	Active TSS	Right Atrium	heart
33	chr1:247274200-247275800	Active TSS	HSMM	muscle
34	chr1:247274200-247275800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr1:247274200-247276000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:247274200-247276000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr1:247274200-247276000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:247274200-247276000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr1:247274200-247276000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:247274200-247276000	Active TSS	Brain Substantia Nigra	brain
41	chr1:247274200-247276200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr1:247274200-247276200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:247274400-247275400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:247274400-247275400	Flanking Active TSS	Colonic Mucosa	Colon
45	chr1:247274400-247275400	Weak transcription	Fetal Brain Male	brain
46	chr1:247274400-247275400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
47	chr1:247274400-247275400	Active TSS	Osteobl	bone
48	chr1:247274400-247275600	Active TSS	Fetal Lung	lung
49	chr1:247274400-247275600	Active TSS	Fetal Stomach	stomach
50	chr1:247274400-247275600	Active TSS	Right Ventricle	heart

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