Variant report

Variant	rs3748806
Chromosome Location	chr1:227751112-227751113
allele	A/C
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	chr1:227751073-227751908	GM12878	blood:	n/a	chr1:227751595-227751605
2	SP1	chr1:227750924-227751406	HepG2	liver:	n/a	chr1:227751222-227751233
3	BHLHE40	chr1:227751105-227751654	HepG2	liver:	n/a	chr1:227751546-227751562
4	CREB1	chr1:227751088-227751747	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:227751087-227751968	HUVEC	blood vessel:	n/a	n/a
6	EP300	chr1:227751103-227751892	ECC-1	luminal epithelium:	n/a	chr1:227751598-227751614 chr1:227751648-227751658
7	PBX3	chr1:227750838-227751839	SK-N-SH	brain:	n/a	chr1:227751186-227751206 chr1:227751133-227751142
8	ZNF143	chr1:227750884-227751825	K562	blood:	n/a	n/a
9	GABPA	chr1:227751084-227751660	HepG2	liver:	n/a	n/a
10	SP2	chr1:227750926-227751488	HepG2	liver:	n/a	chr1:227751184-227751207 chr1:227751003-227751026
11	YY1	chr1:227751013-227751945	GM12878	blood:	n/a	chr1:227751451-227751461 chr1:227751439-227751461 chr1:227751450-227751458 chr1:227751226-227751235 chr1:227751446-227751462 chr1:227751452-227751460
12	TBL1XR1	chr1:227751031-227751831	GM12878	blood:	n/a	n/a
13	ATF1	chr1:227750981-227751936	K562	blood:	n/a	n/a
14	MAX	chr1:227750970-227751960	A549	lung:	n/a	chr1:227751595-227751605
15	SP4	chr1:227751034-227751427	H1-hESC	embryonic stem cell:	n/a	chr1:227751148-227751164 chr1:227751222-227751233
16	YY1	chr1:227751019-227751933	K562	blood:	n/a	chr1:227751451-227751461 chr1:227751439-227751461 chr1:227751450-227751458 chr1:227751226-227751235 chr1:227751446-227751462 chr1:227751452-227751460
17	CREB1	chr1:227750939-227751760	H1-hESC	embryonic stem cell:	n/a	n/a
18	NFIC	chr1:227751004-227751971	GM12878	blood:	n/a	n/a
19	CEBPD	chr1:227750990-227752002	K562	blood:	n/a	n/a
20	POLR2A	chr1:227750930-227751811	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr1:227750978-227751978	K562	blood:	n/a	n/a
22	POLR2A	chr1:227751073-227751959	GM15510	blood:	n/a	n/a
23	POLR2A	chr1:227751048-227751871	K562	blood:	n/a	n/a
24	GTF2F1	chr1:227751038-227752090	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:227751062-227752015	GM12878	blood:	n/a	n/a
26	RFX5	chr1:227751040-227751628	HepG2	liver:	n/a	n/a
27	YY1	chr1:227750832-227752060	SK-N-SH	brain:	n/a	chr1:227751451-227751461 chr1:227751439-227751461 chr1:227751450-227751458 chr1:227751226-227751235 chr1:227751446-227751462 chr1:227751452-227751460
28	POLR2A	chr1:227750959-227752014	PBDE	blood:	n/a	n/a
29	MYBL2	chr1:227750981-227751906	HepG2	liver:	n/a	n/a
30	GABPA	chr1:227750935-227751796	A549	lung:	n/a	n/a
31	POLR2A	chr1:227751060-227751812	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAZ	chr1:227750936-227751957	GM12878	blood:	n/a	chr1:227751595-227751605
33	GABPA	chr1:227751002-227751861	K562	blood:	n/a	n/a
34	POLR2A	chr1:227751080-227751960	GM12892	blood:	n/a	n/a
35	JUND	chr1:227750943-227751512	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:227751092-227751944	MCF-7	breast:	n/a	n/a
37	POLR2A	chr1:227751079-227751860	K562	blood:	n/a	n/a
38	ELK1	chr1:227751046-227752022	Hela-S3	cervix:	n/a	n/a
39	SP1	chr1:227750890-227751935	K562	blood:	n/a	chr1:227751540-227751549 chr1:227751539-227751548 chr1:227751535-227751549 chr1:227751222-227751233 chr1:227751539-227751549 chr1:227751540-227751549 chr1:227751538-227751550 chr1:227751538-227751550 chr1:227751539-227751549
40	TCF12	chr1:227750949-227751843	ECC-1	luminal epithelium:	n/a	n/a
41	RELA	chr1:227750965-227752033	GM19099	blood:	n/a	n/a
42	POLR2A	chr1:227751098-227751970	GM12892	blood:	n/a	n/a
43	YY1	chr1:227751085-227751825	GM12892	blood:	n/a	chr1:227751451-227751461 chr1:227751439-227751461 chr1:227751450-227751458 chr1:227751226-227751235 chr1:227751446-227751462 chr1:227751452-227751460
44	YY1	chr1:227751057-227751868	HepG2	liver:	n/a	chr1:227751451-227751461 chr1:227751439-227751461 chr1:227751450-227751458 chr1:227751226-227751235 chr1:227751446-227751462 chr1:227751452-227751460
45	E2F4	chr1:227750510-227752166	MCF10A-Er-Src	breast:	n/a	chr1:227751543-227751553
46	EP300	chr1:227751007-227751945	GM12878	blood:	n/a	chr1:227751598-227751614 chr1:227751648-227751658
47	MYC	chr1:227751058-227752001	MCF10A-Er-Src	breast:	n/a	chr1:227751595-227751605
48	ZNF143	chr1:227750972-227751681	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr1:227750938-227751858	GM12878	blood:	n/a	n/a
50	YY1	chr1:227751056-227751674	HCT-116	colon:	n/a	chr1:227751451-227751461 chr1:227751439-227751461 chr1:227751450-227751458 chr1:227751226-227751235 chr1:227751446-227751462 chr1:227751452-227751460

No.	Distal block	Cell Line	Cell type
1	chr1:227745812..227749133-chr1:227750205..227753010,3	K562	blood:
2	chr1:227750211..227752851-chr1:227914757..227917634,3	MCF-7	breast:
3	chr1:227750240..227752795-chr1:227921793..227923560,2	K562	blood:
4	chr1:227126771..227129566-chr1:227749760..227753054,3	K562	blood:

Variant related genes	Relation type
ZNF678	TF binding region
ENSG00000143740	Chromatin interaction
ENSG00000163050	Chromatin interaction
ENSG00000202264	Chromatin interaction
ENSG00000081692	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10047205	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1021553	0.86[JPT][hapmap]
rs1021554	0.85[JPT][hapmap]
rs10799432	0.91[JPT][hapmap]
rs10799435	0.91[JPT][hapmap]
rs10916165	0.91[JPT][hapmap]
rs10916178	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10916182	0.91[JPT][hapmap]
rs10916187	0.86[JPT][hapmap]
rs10916192	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12025815	0.91[JPT][hapmap]
rs12059899	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12069550	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12070002	0.91[JPT][hapmap]
rs12070036	0.91[JPT][hapmap]
rs12070539	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12080321	0.91[JPT][hapmap]
rs12080590	0.90[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12082414	0.90[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12092295	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12095502	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12096675	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12132444	0.91[JPT][hapmap]
rs1407718	0.83[JPT][hapmap]
rs1495846	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1495849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16847966	0.90[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16847991	0.90[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16847992	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16848029	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1923821	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2012432	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2093609	0.91[JPT][hapmap]
rs2132366	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2132367	0.91[JPT][hapmap]
rs2256599	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2453682	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2644143	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2644144	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2644146	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2644153	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2644161	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2814059	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2814060	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2814061	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814084	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2814085	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2819496	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2819498	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819507	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2819511	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2935146	0.91[JPT][hapmap]
rs2935152	0.86[JPT][hapmap]
rs2935155	0.91[JPT][hapmap]
rs2999745	0.91[JPT][hapmap]
rs2999746	0.91[JPT][hapmap]
rs3010183	0.86[JPT][hapmap]
rs3010186	0.91[JPT][hapmap]
rs3010190	0.86[JPT][hapmap]
rs3010191	0.86[JPT][hapmap]
rs3010192	0.91[JPT][hapmap]
rs3010193	0.91[JPT][hapmap]
rs3010194	0.86[JPT][hapmap]
rs4376731	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4589104	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4653514	0.91[JPT][hapmap]
rs4653849	0.86[JPT][hapmap]
rs4653853	0.86[JPT][hapmap]
rs58020705	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59034043	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59149651	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59753688	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61343450	0.85[EUR][1000 genomes]
rs66471275	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66491073	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6659745	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66736638	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6683151	0.91[JPT][hapmap]
rs6688145	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6693348	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66938123	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6697867	0.86[JPT][hapmap]
rs67216605	0.85[EUR][1000 genomes]
rs67511833	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67676707	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68046179	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68186506	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72632830	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72632831	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72632832	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72748074	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7413796	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7528094	0.86[JPT][hapmap]
rs753541	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7539151	0.82[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs903690	0.86[JPT][hapmap]
rs903692	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs903693	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs903694	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs903695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs965942	0.90[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3748806	C1orf35	cis	parietal	SCAN
rs3748806	C1orf142	Cis_1M	lymphoblastoid	RTeQTL
rs3748806	ZNF678	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227746400-227751200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr1:227750400-227751200	Enhancers	Pancreas	Pancrea
3	chr1:227750600-227751200	Enhancers	Lung	lung
4	chr1:227750600-227752000	Active TSS	A549	lung
5	chr1:227750600-227752600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:227750800-227751200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:227750800-227751200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:227750800-227751200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:227750800-227751200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:227750800-227751200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr1:227750800-227751200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:227750800-227751200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:227750800-227751200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:227750800-227751200	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr1:227750800-227751200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr1:227750800-227751200	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr1:227750800-227751200	Enhancers	Fetal Brain Male	brain
18	chr1:227750800-227751200	Enhancers	Fetal Intestine Large	intestine
19	chr1:227750800-227751200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:227750800-227751200	Enhancers	Fetal Muscle Leg	muscle
21	chr1:227750800-227751200	Enhancers	Placenta	Placenta
22	chr1:227750800-227751200	Enhancers	Gastric	stomach
23	chr1:227750800-227751200	Enhancers	Left Ventricle	heart
24	chr1:227750800-227751200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:227750800-227751400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
26	chr1:227750800-227751600	Active TSS	Liver	Liver
27	chr1:227750800-227751800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:227750800-227751800	Active TSS	Fetal Lung	lung
29	chr1:227750800-227751800	Active TSS	Rectal Smooth Muscle	rectum
30	chr1:227750800-227751800	Active TSS	NH-A	brain
31	chr1:227750800-227752000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:227750800-227752000	Active TSS	Brain Angular Gyrus	brain
33	chr1:227750800-227752000	Active TSS	Duodenum Mucosa	Duodenum
34	chr1:227750800-227752000	Active TSS	Fetal Brain Female	brain
35	chr1:227750800-227752000	Active TSS	Fetal Kidney	kidney
36	chr1:227750800-227752000	Active TSS	Hela-S3	cervix
37	chr1:227750800-227752000	Active TSS	HUVEC	blood vessel
38	chr1:227750800-227752200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:227750800-227752200	Active TSS	HMEC	breast
40	chr1:227750800-227752400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:227750800-227752400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:227750800-227752400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:227750800-227752400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr1:227750800-227752400	Active TSS	Brain Germinal Matrix	brain
45	chr1:227750800-227752400	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:227750800-227752400	Active TSS	HSMM	muscle
47	chr1:227751000-227751200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:227751000-227751200	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr1:227751000-227751200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:227751000-227751200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links