Variant report

Variant	rs10420384
Chromosome Location	chr19:18549549-18549550
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:129)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:129 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr19:18548942-18550234	K562	blood:	n/a	n/a
2	POLR2A	chr19:18548740-18549851	HepG2	liver:	n/a	n/a
3	TEAD4	chr19:18549468-18549802	K562	blood:	n/a	n/a
4	POLR2A	chr19:18548965-18549900	K562	blood:	n/a	n/a
5	POLR2A	chr19:18548542-18549592	ProgFib	skin:	n/a	n/a
6	POLR2A	chr19:18538551-18551124	K562	blood:	n/a	n/a
7	POLR2A	chr19:18549341-18549672	H1-hESC	embryonic stem cell:	n/a	n/a
8	ESR1	chr19:18549336-18549667	T-47D	breast:	n/a	chr19:18549458-18549475
9	TCF12	chr19:18548923-18550004	ECC-1	luminal epithelium:	n/a	chr19:18549258-18549268 chr19:18549956-18549966
10	PML	chr19:18549259-18549761	K562	blood:	n/a	n/a
11	MAX	chr19:18549197-18549838	K562	blood:	n/a	n/a
12	POLR2A	chr19:18544696-18549949	PFSK-1	brain:	n/a	n/a
13	CHD2	chr19:18549374-18549574	K562	blood:	n/a	n/a
14	NFIC	chr19:18549155-18549842	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr19:18534926-18553479	K562	blood:	n/a	n/a
16	MAX	chr19:18549398-18549801	K562	blood:	n/a	n/a
17	TBL1XR1	chr19:18549489-18549827	K562	blood:	n/a	n/a
18	POLR2A	chr19:18549531-18549615	HUVEC	blood vessel:	n/a	n/a
19	GTF3C2	chr19:18548857-18549720	K562	blood:	n/a	n/a
20	POLR2A	chr19:18548991-18549706	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr19:18549514-18549786	K562	blood:	n/a	n/a
22	MYC	chr19:18549465-18549690	MCF-7	breast:	n/a	n/a
23	POLR2A	chr19:18548339-18549661	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:18549106-18549636	GM12878	blood:	n/a	n/a
25	UBTF	chr19:18548352-18549933	K562	blood:	n/a	n/a
26	HDAC2	chr19:18549396-18549884	K562	blood:	n/a	n/a
27	YY1	chr19:18549002-18549689	ECC-1	luminal epithelium:	n/a	chr19:18549157-18549168
28	POLR2A	chr19:18547157-18552159	K562	blood:	n/a	n/a
29	POLR2A	chr19:18543626-18552057	K562	blood:	n/a	n/a
30	RCOR1	chr19:18549475-18549866	K562	blood:	n/a	n/a
31	MBD4	chr19:18549072-18549628	HepG2	liver:	n/a	n/a
32	YY1	chr19:18549292-18549835	K562	blood:	n/a	n/a
33	MYC	chr19:18547470-18549827	K562	blood:	n/a	chr19:18549025-18549035 chr19:18548349-18548359 chr19:18548398-18548408
34	UBTF	chr19:18549437-18549826	K562	blood:	n/a	n/a
35	MAX	chr19:18549290-18549782	MCF-7	breast:	n/a	n/a
36	TAL1	chr19:18549450-18549837	K562	blood:	n/a	n/a
37	MTA3	chr19:18548344-18550400	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:18549317-18550059	K562	blood:	n/a	n/a
39	POLR2A	chr19:18548562-18549723	HUVEC	blood vessel:	n/a	n/a
40	ZNF263	chr19:18549408-18549770	HEK293-T-REx	kidney:	n/a	chr19:18549603-18549624
41	POLR2A	chr19:18548402-18549678	K562	blood:	n/a	n/a
42	GATA2	chr19:18549490-18549818	K562	blood:	n/a	chr19:18549654-18549663
43	POLR2A	chr19:18548422-18549587	K562	blood:	n/a	n/a
44	EGR1	chr19:18549306-18550183	K562	blood:	n/a	chr19:18549434-18549447 chr19:18549890-18549899 chr19:18549683-18549693
45	CTCF	chr19:18549541-18549674	MCF-7	breast:	n/a	n/a
46	ZNF143	chr19:18549532-18549643	H1-hESC	embryonic stem cell:	n/a	n/a
47	HCFC1	chr19:18549510-18549792	K562	blood:	n/a	n/a
48	ZBTB7A	chr19:18548629-18550323	K562	blood:	n/a	chr19:18548801-18548809
49	TCF12	chr19:18547733-18550053	ECC-1	luminal epithelium:	n/a	chr19:18549258-18549268 chr19:18549956-18549966
50	EP300	chr19:18549167-18550051	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18391389..18392894-chr19:18547544..18549932,2	MCF-7	breast:
2	chr19:18548448..18551673-chr19:18681148..18684161,3	K562	blood:
3	chr19:18314746..18317215-chr19:18546753..18549806,3	K562	blood:
4	chr19:18531228..18534737-chr19:18549514..18551818,3	MCF-7	breast:
5	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
6	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
7	chr19:18549229..18551891-chr19:18947314..18949690,2	K562	blood:
8	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
9	chr19:18549183..18551304-chr19:18943433..18945285,2	MCF-7	breast:
10	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
11	chr19:18547378..18549702-chr19:18699788..18702900,3	K562	blood:
12	chr19:18451193..18453522-chr19:18547468..18550080,2	K562	blood:
13	chr19:18548890..18552469-chr19:18555256..18558580,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268199	TF binding region
ISYNA1	TF binding region
ENSG00000006015	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000264175	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10164319	0.82[JPT][hapmap]
rs10164323	0.93[JPT][hapmap]
rs10402322	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10405636	0.82[JPT][hapmap]
rs10408290	0.81[JPT][hapmap]
rs10409346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10409408	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10410797	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10413922	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10416993	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10418331	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10418554	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10423802	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10425982	0.82[JPT][hapmap]
rs10426768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10427083	0.81[JPT][hapmap]
rs10442	0.81[JPT][hapmap]
rs1045631	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11086110	0.88[CEU][hapmap];0.88[CHB][hapmap];0.85[EUR][1000 genomes]
rs11668704	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11670392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11672385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11879757	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12980726	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12982295	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12983263	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1469412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1469413	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1560118	0.82[JPT][hapmap]
rs1560119	0.82[JPT][hapmap]
rs1971093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2013069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2162797	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2278238	0.81[JPT][hapmap]
rs2303692	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303695	0.82[JPT][hapmap]
rs2303697	0.81[JPT][hapmap]
rs2385088	0.81[JPT][hapmap]
rs2385089	0.81[JPT][hapmap]
rs271621	0.82[JPT][hapmap]
rs271624	0.82[JPT][hapmap]
rs271626	0.81[JPT][hapmap]
rs271628	0.82[JPT][hapmap]
rs28534973	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891676	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34053595	0.80[JPT][hapmap]
rs34213500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35004712	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35742476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810429	0.81[JPT][hapmap]
rs4006662	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4303657	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4580317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808801	0.81[JPT][hapmap]
rs4808802	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808803	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808805	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808808	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808811	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808813	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55715336	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57923655	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6512268	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6512269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6512270	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6512271	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7246788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247540	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7249760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7251640	1.00[CHB][hapmap]
rs7252130	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7252185	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7252707	0.82[JPT][hapmap]
rs7252848	0.81[JPT][hapmap]
rs7253990	0.82[JPT][hapmap]
rs7255936	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7256530	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7256534	0.82[JPT][hapmap]
rs7258465	0.81[JPT][hapmap]
rs7258891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7259135	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs748609	0.82[JPT][hapmap]
rs7507218	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs76195	0.81[JPT][hapmap]
rs8100343	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8100767	0.82[JPT][hapmap]
rs8102717	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8103622	0.82[JPT][hapmap]
rs8104247	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8105994	0.81[JPT][hapmap]
rs8106068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8106332	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8107347	0.82[JPT][hapmap]
rs8109573	0.82[JPT][hapmap]
rs8111397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8111582	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8111824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8112372	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8112859	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs875396	0.82[JPT][hapmap]
rs888668	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
3	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
11	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
12	nsv911279	chr19:18533642-18550276	Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
13	nsv911280	chr19:18533642-18552139	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10420384	LOC646044///SSBP4	Cis_1M	lymphoblastoid	RTeQTL
rs10420384	SSBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18545200-18570000	Weak transcription	Small Intestine	intestine
2	chr19:18547200-18549600	Enhancers	Fetal Brain Male	brain
3	chr19:18547400-18549600	Flanking Active TSS	Fetal Muscle Leg	muscle
4	chr19:18547400-18549800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:18547400-18549800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:18547400-18549800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:18547600-18550000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:18548400-18549600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr19:18548400-18549600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:18548400-18549600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:18548400-18549600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr19:18548400-18549600	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr19:18548400-18549600	Flanking Active TSS	Right Ventricle	heart
14	chr19:18548400-18549600	Flanking Active TSS	HMEC	breast
15	chr19:18548400-18549800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:18548400-18550200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:18548600-18550600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:18548600-18554200	Weak transcription	Dnd41	blood
19	chr19:18548800-18549800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr19:18548800-18550000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr19:18548800-18550400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:18548800-18550600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:18548800-18550800	Enhancers	NHLF	lung
24	chr19:18548800-18552800	Weak transcription	Primary T cells from cord blood	blood
25	chr19:18548800-18552800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:18548800-18552800	Weak transcription	HSMMtube	muscle
27	chr19:18548800-18553200	Weak transcription	Fetal Kidney	kidney
28	chr19:18548800-18554200	Weak transcription	NHDF-Ad	bronchial
29	chr19:18549000-18549600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:18549000-18549600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:18549000-18549600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:18549000-18549600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:18549000-18549600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:18549000-18549600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:18549000-18549600	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr19:18549000-18549600	Enhancers	Gastric	stomach
37	chr19:18549000-18549600	Enhancers	Lung	lung
38	chr19:18549000-18549600	Flanking Active TSS	Pancreas	Pancrea
39	chr19:18549000-18549600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr19:18549000-18549600	Flanking Active TSS	NHEK	skin
41	chr19:18549000-18549800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr19:18549000-18549800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr19:18549000-18550000	Enhancers	Primary B cells from peripheral blood	blood
44	chr19:18549000-18550200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:18549000-18550200	Enhancers	Primary hematopoietic stem cells	blood
46	chr19:18549000-18550600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:18549000-18550600	Enhancers	Fetal Heart	heart
48	chr19:18549000-18550800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:18549000-18550800	Flanking Active TSS	HepG2	liver
50	chr19:18549000-18551600	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links