Variant report

Variant	rs2861488
Chromosome Location	chr19:35727713-35727714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:35727600-35727750	HEK293	kidney:	n/a	n/a
2	CTCF	chr19:35727580-35727730	HCPEpiC	choroid plexus:	n/a	n/a
3	RAD21	chr19:35727495-35727878	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr19:35727600-35727750	HMEC	breast:	n/a	n/a
5	SPI1	chr19:35727572-35727751	HL-60	blood:	n/a	n/a
6	CTCF	chr19:35727478-35727820	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr19:35727419-35727807	HepG2	liver:	n/a	n/a
8	CTCF	chr19:35727580-35727730	A549	lung:	n/a	n/a
9	CTCF	chr19:35727600-35727750	BE2_C	brain:	n/a	n/a
10	USF2	chr19:35727525-35727715	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr19:35727529-35727822	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr19:35727539-35727717	GM13977	blood:	n/a	n/a
13	RAD21	chr19:35727502-35727727	HepG2	liver:	n/a	n/a
14	CTCF	chr19:35727526-35727738	GM19238	blood:	n/a	n/a
15	CTCF	chr19:35727522-35727745	GM19239	blood:	n/a	n/a
16	CTCF	chr19:35727600-35727750	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr19:35727600-35727750	HRE	kidney:	n/a	n/a
18	CTCF	chr19:35727600-35727750	GM12873	blood:	n/a	n/a
19	CTCF	chr19:35727529-35727734	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr19:35727640-35727790	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr19:35727700-35727850	GM12870	blood:	n/a	n/a
22	CTCF	chr19:35727476-35727797	GM12878	blood:	n/a	n/a
23	RFX5	chr19:35727603-35728250	Hela-S3	cervix:	n/a	chr19:35728072-35728087
24	CTCF	chr19:35727620-35727770	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr19:35727532-35727724	MCF-7	breast:	n/a	n/a
26	CTCF	chr19:35727620-35727770	HMF	breast:	n/a	n/a
27	CTCF	chr19:35727580-35727730	GM12871	blood:	n/a	n/a
28	CTCF	chr19:35727600-35727750	K562	blood:	n/a	n/a
29	CTCF	chr19:35727544-35727715	HepG2	liver:	n/a	n/a
30	CTCF	chr19:35727580-35727730	GM12878	blood:	n/a	n/a
31	CTCF	chr19:35727580-35727730	WERI-Rb-1	eye:	n/a	n/a
32	RAD21	chr19:35727498-35727879	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr19:35727580-35727730	NB4	blood:	n/a	n/a
34	CTCF	chr19:35727516-35727762	HepG2	liver:	n/a	n/a
35	CTCF	chr19:35727600-35727750	GM12868	blood:	n/a	n/a
36	CTCF	chr19:35727537-35727749	HepG2	liver:	n/a	n/a
37	CTCF	chr19:35727506-35727757	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:35727558-35727735	Lung_OC	lung:	n/a	n/a
39	CTCF	chr19:35727600-35727750	GM12865	blood:	n/a	n/a
40	CTCF	chr19:35727529-35727750	GM12878	blood:	n/a	n/a
41	RAD21	chr19:35727518-35727804	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr19:35727517-35727739	GM12892	blood:	n/a	n/a
43	CTCF	chr19:35727600-35727750	HCM	heart:	n/a	n/a
44	CTCF	chr19:35727549-35727740	K562	blood:	n/a	n/a
45	CTCF	chr19:35727600-35727750	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr19:35727537-35727734	NHEK	skin:	n/a	n/a
47	CTCF	chr19:35727580-35727730	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:35727600-35727750	GM12864	blood:	n/a	n/a
49	CTCF	chr19:35727620-35727770	Caco-2	colon:	n/a	n/a
50	CTCF	chr19:35727580-35727730	GM12873	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:35726434..35728106-chr19:35756792..35759726,2	MCF-7	breast:
2	chr19:35726411..35728411-chr19:35738431..35740321,3	K562	blood:
3	chr19:35724794..35729029-chr19:35737284..35741399,5	MCF-7	breast:

No data

Variant related genes	Relation type
FAM187B2P	TF binding region
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10407740	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10411872	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10412357	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10416254	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10418562	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10421791	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10422195	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10424110	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084809	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11669258	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12609790	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073900	0.84[ASN][1000 genomes]
rs2188327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861485	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2861487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34926220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4805118	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4806117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806119	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4806122	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4806123	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56209605	0.95[EUR][1000 genomes]
rs6510474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7248460	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7249852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7249941	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7249962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7250531	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7251826	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7253876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7255786	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73029964	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73029965	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73029970	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7359971	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8112032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	107 gene(s)	inside rSNPs	diseases
4	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv2763203	chr19:35700047-35738400	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
9	nsv978896	chr19:35724047-35748472	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35727600-35728000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr19:35727600-35728000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:35727600-35728000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:35727600-35728000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr19:35727600-35728200	Enhancers	Primary B cells from peripheral blood	blood

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