Variant report

Variant	rs813115
Chromosome Location	chr6:31620020-31620021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:31619552-31621260	MCF-7	breast:	n/a	chr6:31620481-31620491 chr6:31619768-31619778
2	MAX	chr6:31619581-31621234	ECC-1	luminal epithelium:	n/a	chr6:31620481-31620491 chr6:31619768-31619778
3	BHLHE40	chr6:31619517-31621306	K562	blood:	n/a	n/a
4	ATF2	chr6:31619544-31621131	GM12878	blood:	n/a	n/a
5	SP1	chr6:31619967-31621176	H1-hESC	embryonic stem cell:	n/a	chr6:31620472-31620482 chr6:31620471-31620483 chr6:31620477-31620489 chr6:31620473-31620482 chr6:31620472-31620481 chr6:31620150-31620162 chr6:31620478-31620492 chr6:31620472-31620486 chr6:31620152-31620161 chr6:31620477-31620489 chr6:31620150-31620162 chr6:31620479-31620488 chr6:31620471-31620483 chr6:31620472-31620482 chr6:31620151-31620160
6	ETS1	chr6:31619325-31621283	K562	blood:	n/a	chr6:31620180-31620189 chr6:31620180-31620189 chr6:31620180-31620189 chr6:31620180-31620189 chr6:31620764-31620773 chr6:31620180-31620189 chr6:31620764-31620773 chr6:31620178-31620188 chr6:31620180-31620189 chr6:31621203-31621216 chr6:31620177-31620193 chr6:31620180-31620189 chr6:31620765-31620775
7	BCLAF1	chr6:31619710-31621467	K562	blood:	n/a	chr6:31620144-31620157 chr6:31620151-31620160 chr6:31621073-31621086 chr6:31620180-31620189
8	STAT3	chr6:31619719-31621070	GM12878	blood:	n/a	chr6:31620476-31620488 chr6:31620474-31620486
9	GABPA	chr6:31619667-31621011	HL-60	blood:	n/a	chr6:31619949-31619963 chr6:31619946-31619960 chr6:31620423-31620437 chr6:31619949-31619960 chr6:31619949-31619958
10	POLR2A	chr6:31619685-31621459	HCT-116	colon:	n/a	n/a
11	POLR2A	chr6:31619601-31621730	K562	blood:	n/a	n/a
12	NFIC	chr6:31619755-31621262	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:31619552-31621106	HCT-116	colon:	n/a	n/a
14	SIN3A	chr6:31619356-31621264	H1-hESC	embryonic stem cell:	n/a	n/a
15	GABPA	chr6:31619893-31620824	GM12878	blood:	n/a	chr6:31619949-31619963 chr6:31619946-31619960 chr6:31620423-31620437 chr6:31619949-31619960 chr6:31619949-31619958
16	CEBPD	chr6:31619552-31621768	K562	blood:	n/a	n/a
17	TCF7L2	chr6:31619983-31621033	HCT-116	colon:	n/a	n/a
18	POLR2A	chr6:31619453-31621158	H1-hESC	embryonic stem cell:	n/a	n/a
19	GABPA	chr6:31619545-31621056	K562	blood:	n/a	chr6:31619949-31619963 chr6:31619946-31619960 chr6:31620423-31620437 chr6:31619949-31619960 chr6:31619949-31619958
20	POLR2A	chr6:31619672-31620644	A549	lung:	n/a	n/a
21	POLR2A	chr6:31619202-31621792	H1-hESC	embryonic stem cell:	n/a	n/a
22	PBX3	chr6:31619476-31621078	SK-N-SH	brain:	n/a	n/a
23	NFYA	chr6:31619625-31620857	K562	blood:	n/a	n/a
24	POLR2A	chr6:31619685-31621167	Raji	blood:	n/a	n/a
25	MAX	chr6:31619658-31620983	HUVEC	blood vessel:	n/a	chr6:31620481-31620491 chr6:31619768-31619778
26	MBD4	chr6:31619854-31621299	HepG2	liver:	n/a	n/a
27	BCL3	chr6:31619977-31620943	GM12878	blood:	n/a	chr6:31620144-31620157 chr6:31620151-31620160 chr6:31620180-31620189
28	POLR2A	chr6:31619512-31621686	HCT-116	colon:	n/a	n/a
29	POLR2A	chr6:31619327-31621832	K562	blood:	n/a	n/a
30	MYC	chr6:31619617-31621303	K562	blood:	n/a	chr6:31620481-31620491 chr6:31619768-31619778
31	POLR2A	chr6:31619696-31621108	GM12878	blood:	n/a	n/a
32	TBP	chr6:31619568-31621182	K562	blood:	n/a	n/a
33	FOXM1	chr6:31619742-31621119	GM12878	blood:	n/a	n/a
34	MYC	chr6:31619696-31621114	H1-hESC	embryonic stem cell:	n/a	chr6:31620481-31620491 chr6:31619768-31619778
35	POLR2A	chr6:31619722-31620971	A549	lung:	n/a	n/a
36	CREB1	chr6:31619502-31621166	GM12878	blood:	n/a	n/a
37	MXI1	chr6:31619611-31621488	K562	blood:	n/a	n/a
38	MAX	chr6:31619668-31621103	K562	blood:	n/a	chr6:31620481-31620491 chr6:31619768-31619778
39	SIN3AK20	chr6:31619452-31621142	H1-hESC	embryonic stem cell:	n/a	n/a
40	TBP	chr6:31619590-31621131	HepG2	liver:	n/a	n/a
41	E2F6	chr6:31619632-31620190	K562	blood:	n/a	chr6:31619945-31619953 chr6:31619946-31619953 chr6:31619950-31619959 chr6:31619946-31619953 chr6:31619946-31619953
42	CHD1	chr6:31619553-31620108	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr6:31619509-31621043	SK-N-SH	brain:	n/a	chr6:31620481-31620491 chr6:31619768-31619778
44	GABPA	chr6:31619859-31620428	H1-hESC	embryonic stem cell:	n/a	chr6:31619949-31619963 chr6:31619946-31619960 chr6:31619949-31619960 chr6:31619949-31619958
45	YY1	chr6:31619927-31621168	GM12892	blood:	n/a	n/a
46	CEBPB	chr6:31619609-31621828	K562	blood:	n/a	chr6:31621514-31621525
47	ZNF384	chr6:31619546-31621003	K562	blood:	n/a	n/a
48	TAF1	chr6:31619592-31621271	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:31619830-31621087	HEK293	kidney:	n/a	n/a
50	HEY1	chr6:31619539-31621161	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31620002-31620052	K562	blood:	n/a
2	chr6:31619971-31620021	MCF10A-Er-Src	breast:	n/a
3	chr6:31620002-31620052	AG09319	gingival:	n/a
4	chr6:31620002-31620052	HMEC	breast:	n/a
5	chr6:31620011-31620061	HCM	heart:	n/a
6	chr6:31620011-31620061	IMR90	lung:	fetal
7	chr6:31619971-31620021	HPAEpiC	pulmonary alveolar:	n/a
8	chr6:31619971-31620021	Jurkat	blood:	n/a
9	chr6:31619971-31620021	Hela-S3	cervix:	n/a
10	chr6:31619971-31620021	T-47D	breast:	n/a
11	chr6:31620011-31620061	ProgFib	skin:	n/a
12	chr6:31620011-31620061	MCF-7	breast:	n/a
13	chr6:31619971-31620021	NB4	blood:	n/a
14	chr6:31620002-31620052	Hela-S3	cervix:	n/a
15	chr6:31620011-31620061	GM12892	blood:	n/a
16	chr6:31620011-31620061	HCT-116	colon:	n/a
17	chr6:31620011-31620061	PrEC	prostate:	n/a
18	chr6:31620011-31620061	AG09319	gingival:	n/a
19	chr6:31619971-31620021	IMR90	lung:	fetal
20	chr6:31620002-31620052	HCPEpiC	choroid plexus:	n/a
21	chr6:31619971-31620021	GM12891	blood:	n/a
22	chr6:31620002-31620052	HEEpiC	esophagus:	n/a
23	chr6:31620002-31620052	HRCEpiC	kidney:	n/a
24	chr6:31620011-31620061	NH-A	brain:	n/a
25	chr6:31620011-31620061	HEEpiC	esophagus:	n/a
26	chr6:31620002-31620052	GM12878	blood:	n/a
27	chr6:31620002-31620052	PANC-1	pancreas:	n/a
28	chr6:31620011-31620061	Caco-2	colon:	n/a
29	chr6:31620002-31620052	NH-A	brain:	n/a
30	chr6:31619971-31620021	HMEC	breast:	n/a
31	chr6:31620002-31620052	GM12892	blood:	n/a
32	chr6:31619971-31620021	HCM	heart:	n/a
33	chr6:31620011-31620061	SK-N-MC	brain:	n/a
34	chr6:31619971-31620021	SK-N-SH_RA	brain:	n/a
35	chr6:31619971-31620021	PFSK-1	brain:	n/a
36	chr6:31620002-31620052	SKMC	muscle:	n/a
37	chr6:31620011-31620061	ECC-1	luminal epithelium:	n/a
38	chr6:31619971-31620021	HNPCEpiC	eye:	n/a
39	chr6:31620002-31620052	AoSMC	blood vessel:	n/a
40	chr6:31620011-31620061	GM19239	blood:	n/a
41	chr6:31620011-31620061	HRE	kidney:	n/a
42	chr6:31620011-31620061	HEK293	kidney:	embryo
43	chr6:31620002-31620052	AG04450	lung:	fetal
44	chr6:31620011-31620061	GM12878	blood:	n/a
45	chr6:31620002-31620052	Jurkat	blood:	n/a
46	chr6:31620002-31620052	H1-hESC	embryonic stem cell:	embryo
47	chr6:31620011-31620061	GM12891	blood:	n/a
48	chr6:31619971-31620021	Hepatocyte	liver:	n/a
49	chr6:31619971-31620021	BJ	skin:	n/a
50	chr6:31620011-31620061	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31617566..31622844-chr6:31826455..31835211,65	K562	blood:
2	chr6:31619844..31620713-chr6:31632640..31633445,3	HCT-116	colon:
3	chr6:31617977..31621822-chr6:31647367..31651078,5	MCF-7	breast:
4	chr6:31618484..31622073-chr6:31864833..31868659,4	K562	blood:
5	chr6:31617566..31630444-chr6:31823885..31836000,84	K562	blood:
6	chr6:31619887..31620869-chr7:66119424..66120022,2	Hela-S3	cervix:
7	chr6:31619534..31622102-chr6:31706429..31708950,2	MCF-7	breast:
8	chr6:31619941..31620671-chr9:131937751..131938282,2	Hela-S3	cervix:
9	chr6:31619085..31621370-chr6:31801083..31803892,2	MCF-7	breast:
10	chr6:31586197..31590294-chr6:31618213..31621899,10	MCF-7	breast:
11	chr6:31590485..31592545-chr6:31618288..31620102,2	MCF-7	breast:
12	chr6:31618191..31620672-chr6:31669780..31672189,2	MCF-7	breast:
13	chr6:31618325..31621676-chr6:31863690..31867276,5	K562	blood:
14	chr14:75745180..75745877-chr6:31619624..31620407,2	Hela-S3	cervix:
15	chr20:57267354..57268312-chr6:31619714..31620460,2	Hela-S3	cervix:
16	chr6:31507205..31511686-chr6:31618024..31622039,13	K562	blood:
17	chr6:31594287..31597004-chr6:31618520..31620536,2	MCF-7	breast:
18	chr6:31619762..31620581-chr9:124132351..124133281,2	NB4	blood:
19	chr11:126138510..126139469-chr6:31619696..31620504,2	Hela-S3	cervix:
20	chr6:31618645..31621732-chr6:31914935..31918984,4	K562	blood:
21	chr6:31618887..31620702-chr6:31843664..31845751,2	MCF-7	breast:
22	chr2:179315636..179316588-chr6:31619681..31620664,2	Hela-S3	cervix:
23	chr6:31619043..31621335-chr6:31782938..31784758,2	MCF-7	breast:
24	chr6:31619018..31621668-chr6:31828535..31831298,4	MCF-7	breast:
25	chr6:31507451..31516055-chr6:31617949..31624791,11	MCF-7	breast:
26	chr6:31619065..31621303-chr6:31762386..31764649,2	MCF-7	breast:
27	chr6:31619174..31622035-chr6:31794476..31797735,3	MCF-7	breast:
28	chr17:59488570..59491510-chr6:31618990..31620979,2	MCF-7	breast:
29	chr6:31461147..31462941-chr6:31618531..31620077,2	K562	blood:
30	chr6:31619280..31620873-chr6:31935756..31938534,2	K562	blood:
31	chr4:151936600..151937399-chr6:31619762..31620553,2	Hela-S3	cervix:
32	chr6:31618346..31620951-chr6:31659194..31661993,2	MCF-7	breast:
33	chr6:31587877..31588813-chr6:31619626..31620207,2	MCF-7	breast:
34	chr6:31619268..31620861-chr6:31687198..31689564,2	MCF-7	breast:
35	chr6:31507406..31516955-chr6:31615847..31623354,26	K562	blood:
36	chr6:31512553..31516955-chr6:31618753..31622292,7	K562	blood:
37	chr1:28832657..28835568-chr6:31619197..31620853,2	K562	blood:

Variant related genes	Relation type
APOM	TF binding region
BAG6	TF binding region
APOM	CpG island
BAG6	CpG island
ENSG00000204390	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000268050	Chromatin interaction
ENSG00000204421	Chromatin interaction
ENSG00000180228	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000243649	Chromatin interaction
ENSG00000200816	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000182934	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000198589	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000200087	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000215440	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000204516	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000148175	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000204351	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000110074	Chromatin interaction
ENSG00000204371	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1046089	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1052486	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1077393	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1266075	0.83[AMR][1000 genomes]
rs1266076	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2077491	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2077492	0.82[ASN][1000 genomes]
rs2242659	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242660	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2260000	0.83[ASN][1000 genomes]
rs2260050	0.82[ASN][1000 genomes]
rs2736155	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2736172	0.81[ASN][1000 genomes]
rs2844465	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2844466	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2844472	0.81[ASN][1000 genomes]
rs4569	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7029	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs707917	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs707920	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7992	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs805257	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805262	0.82[ASN][1000 genomes]
rs805271	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs805274	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs805277	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs805281	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs805282	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs805290	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805301	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
12	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
13	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
14	nsv462871	chr6:31575276-31632134	Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	133 gene(s)	inside rSNPs	diseases
15	nsv601942	chr6:31575276-31632134	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	133 gene(s)	inside rSNPs	diseases
16	nsv884419	chr6:31585000-31632651	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	138 gene(s)	inside rSNPs	diseases
17	nsv884420	chr6:31586827-31632651	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	138 gene(s)	inside rSNPs	diseases
18	nsv884421	chr6:31588151-31631907	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	129 gene(s)	inside rSNPs	diseases
19	nsv884422	chr6:31592524-31631907	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
20	nsv884424	chr6:31593729-31632651	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases
21	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
22	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs813115	CSNK2B	cis	lymphoblastoid	seeQTL
rs813115	AIF1	Cis_1M	lymphoblastoid	RTeQTL
rs813115	BAT4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31618800-31621600	Active TSS	A549	lung
2	chr6:31619000-31621000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:31619000-31621400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:31619000-31621400	Active TSS	NHDF-Ad	bronchial
5	chr6:31619000-31621400	Active TSS	NHLF	lung
6	chr6:31619000-31621600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:31619000-31621600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:31619000-31621600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:31619000-31621600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:31619000-31621600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:31619200-31620400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:31619200-31621000	Active TSS	GM12878-XiMat	blood
13	chr6:31619200-31621400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:31619200-31621400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:31619200-31621400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:31619200-31621400	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr6:31619200-31621600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:31619200-31621600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:31619200-31621600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:31619200-31621600	Active TSS	Psoas Muscle	Psoas
21	chr6:31619400-31621000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:31619400-31621000	Active TSS	Muscle Satellite Cultured Cells	--
23	chr6:31619400-31621000	Active TSS	Fetal Brain Female	brain
24	chr6:31619400-31621200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:31619400-31621200	Active TSS	Esophagus	oesophagus
26	chr6:31619400-31621200	Active TSS	Ovary	ovary
27	chr6:31619400-31621400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr6:31619400-31621400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:31619400-31621400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:31619400-31621400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:31619400-31621400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr6:31619400-31621400	Active TSS	Fetal Intestine Small	intestine
33	chr6:31619400-31621400	Active TSS	Placenta Amnion	Placenta Amnion
34	chr6:31619400-31621600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:31619400-31621600	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr6:31619400-31621600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:31619600-31620400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr6:31619600-31620600	Active TSS	HMEC	breast
39	chr6:31619600-31620600	Active TSS	HUVEC	blood vessel
40	chr6:31619600-31620800	Bivalent/Poised TSS	HepG2	liver
41	chr6:31619600-31620800	Active TSS	Osteobl	bone
42	chr6:31619600-31621000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:31619600-31621000	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr6:31619600-31621000	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr6:31619600-31621000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:31619600-31621000	Active TSS	Duodenum Mucosa	Duodenum
47	chr6:31619600-31621000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr6:31619600-31621200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:31619600-31621200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:31619600-31621200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links