Variant report

Variant	rs3212817
Chromosome Location	chr19:51326846-51326847
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	ZMIZ1	chr19:51326752-51326937	K562	blood:	n/a	n/a
2	ATF1	chr19:51326647-51326907	K562	blood:	n/a	n/a
3	EP300	chr19:51326568-51326972	K562	blood:	n/a	n/a
4	UBTF	chr19:51326586-51326924	K562	blood:	n/a	n/a
5	MYC	chr19:51326639-51327078	K562	blood:	n/a	chr19:51326930-51326940
6	POLR2A	chr19:51326552-51327118	K562	blood:	n/a	n/a
7	RCOR1	chr19:51326558-51327135	K562	blood:	n/a	n/a
8	MAX	chr19:51326557-51327102	K562	blood:	n/a	chr19:51326930-51326940
9	TBL1XR1	chr19:51326615-51326937	K562	blood:	n/a	n/a
10	YY1	chr19:51326608-51326858	K562	blood:	n/a	n/a
11	REST	chr19:51326562-51326889	K562	blood:	n/a	n/a
12	MYC	chr19:51326670-51327152	K562	blood:	n/a	chr19:51326930-51326940
13	TAL1	chr19:51326648-51326946	K562	blood:	n/a	chr19:51326807-51326815
14	E2F6	chr19:51326704-51326869	K562	blood:	n/a	n/a
15	CCNT2	chr19:51326641-51327002	K562	blood:	n/a	n/a
16	TEAD4	chr19:51326514-51326980	K562	blood:	n/a	n/a
17	HDAC2	chr19:51326584-51326968	K562	blood:	n/a	n/a
18	CEBPD	chr19:51326601-51327026	K562	blood:	n/a	n/a
19	EGR1	chr19:51326545-51326955	K562	blood:	n/a	chr19:51326771-51326780 chr19:51326768-51326781 chr19:51326768-51326781
20	JUN	chr19:51325930-51327211	K562	blood:	n/a	chr19:51327165-51327174 chr19:51327164-51327173 chr19:51327163-51327172
21	ZNF143	chr19:51326817-51326850	K562	blood:	n/a	n/a
22	EBF1	chr19:51326831-51327161	GM12878	blood:	n/a	chr19:51327052-51327061 chr19:51327052-51327061 chr19:51327051-51327062 chr19:51327052-51327062
23	EGR1	chr19:51326526-51327002	K562	blood:	n/a	chr19:51326771-51326780 chr19:51326768-51326781 chr19:51326768-51326781
24	ZBTB7A	chr19:51326487-51327053	K562	blood:	n/a	n/a
25	HMGN3	chr19:51326485-51327045	K562	blood:	n/a	n/a
26	ELF1	chr19:51326548-51327069	K562	blood:	n/a	n/a
27	ZNF263	chr19:51326546-51326938	K562	blood:	n/a	chr19:51326719-51326728
28	MAX	chr19:51326629-51326884	K562	blood:	n/a	n/a
29	BHLHE40	chr19:51326719-51326862	K562	blood:	n/a	n/a
30	MAX	chr19:51326669-51327154	K562	blood:	n/a	chr19:51326930-51326940
31	JUND	chr19:51326594-51326976	K562	blood:	n/a	n/a
32	ZNF384	chr19:51326709-51326889	K562	blood:	n/a	n/a
33	MAZ	chr19:51326513-51327194	K562	blood:	n/a	chr19:51326930-51326940 chr19:51327166-51327176

No.	Distal block	Cell Line	Cell type
1	chr19:51324739..51330198-chr19:51333522..51340343,9	K562	blood:
2	chr19:51324313..51327368-chr19:51329221..51331618,3	MCF-7	breast:
3	chr19:51317914..51322870-chr19:51325257..51328084,4	MCF-7	breast:
4	chr19:51306849..51308707-chr19:51324714..51327546,2	MCF-7	breast:
5	chr19:51321294..51329149-chr19:51334672..51341529,13	K562	blood:

Variant related genes	Relation type
KLK1	TF binding region
ENSG00000267968	Chromatin interaction
ENSG00000174562	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000180279	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10406640	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212805	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212849	1.00[AMR][1000 genomes]
rs3212850	1.00[AMR][1000 genomes]
rs73584985	1.00[AMR][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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv526232	chr19:51301230-51335943	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv519121	chr19:51308092-51332670	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv524637	chr19:51321083-51332670	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv523089	chr19:51321083-51336197	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51320800-51338800	Weak transcription	Right Atrium	heart
2	chr19:51321800-51327600	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:51324800-51327400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:51324800-51327800	Enhancers	Duodenum Mucosa	Duodenum
5	chr19:51325200-51328000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr19:51325800-51327600	Enhancers	Fetal Intestine Large	intestine
7	chr19:51326000-51327400	Enhancers	Fetal Intestine Small	intestine
8	chr19:51326000-51327400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr19:51326200-51327400	Enhancers	Colonic Mucosa	Colon
10	chr19:51326400-51327000	Active TSS	Pancreas	Pancrea
11	chr19:51326600-51327000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:51326600-51327000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr19:51326600-51327000	Flanking Active TSS	K562	blood
14	chr19:51326600-51327200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:51326600-51327800	Enhancers	Stomach Mucosa	stomach
16	chr19:51326800-51327600	Enhancers	Primary B cells from cord blood	blood

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