Variant report

Variant	rs2267576
Chromosome Location	chr19:35825720-35825721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35819647-35826483	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:35824697-35825772	GM12892	blood:	n/a	n/a
3	ELF1	chr19:35825647-35826313	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:35819682-35826512	GM12878	blood:	n/a	n/a
5	PML	chr19:35823363-35825812	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:35825345-35825726	GM12891	blood:	n/a	n/a
7	POLR2A	chr19:35823459-35826382	GM18505	blood:	n/a	n/a
8	MTA3	chr19:35824520-35825769	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:35823465-35826359	GM19193	blood:	n/a	n/a
10	POLR2A	chr19:35824715-35825755	GM12891	blood:	n/a	n/a
11	POLR2A	chr19:35819733-35826364	GM12878	blood:	n/a	n/a
12	RUNX3	chr19:35824522-35825770	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:35823509-35825814	GM12891	blood:	n/a	n/a
14	POLR2A	chr19:35823438-35826540	GM12892	blood:	n/a	n/a
15	POLR2A	chr19:35824618-35826326	GM15510	blood:	n/a	n/a
16	RELA	chr19:35824994-35826317	GM15510	blood:	n/a	n/a
17	STAT5A	chr19:35824832-35825756	GM12878	blood:	n/a	n/a
18	TBP	chr19:35825622-35826334	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:35823503-35826358	GM19099	blood:	n/a	n/a
20	POLR2A	chr19:35825313-35825730	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:35819664-35827598	GM12878	blood:	n/a	n/a
22	NFIC	chr19:35824562-35826386	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:35823400-35826525	GM12892	blood:	n/a	n/a
24	NFATC1	chr19:35824500-35825789	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:35824434-35826488	GM12878	blood:	n/a	n/a
26	RUNX3	chr19:35824882-35825764	GM12878	blood:	n/a	n/a
27	MTA3	chr19:35819478-35825817	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:35819625-35826402	GM12878	blood:	n/a	n/a
29	BHLHE40	chr19:35825068-35826277	GM12878	blood:	n/a	n/a
30	BCLAF1	chr19:35824775-35825721	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:35823376-35827861	GM12892	blood:	n/a	n/a
32	FOXM1	chr19:35824789-35825769	GM12878	blood:	n/a	n/a
33	CEBPB	chr19:35824824-35825746	GM12878	blood:	n/a	n/a
34	CHD1	chr19:35824795-35826216	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:35821043-35826375	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35824362..35827653-chr19:35833648..35835765,3	K562	blood:
2	chr19:35808727..35811352-chr19:35824203..35826725,2	MCF-7	breast:

No data

Variant related genes	Relation type
CD22	TF binding region
ENSG00000012124	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10419538	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12327820	0.85[EUR][1000 genomes]
rs2239512	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	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
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv1828194	chr19:35812566-35865695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35810400-35835200	Weak transcription	Fetal Lung	lung
2	chr19:35811600-35832200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:35817600-35844000	Weak transcription	Brain Angular Gyrus	brain
4	chr19:35818800-35836600	Weak transcription	Brain Anterior Caudate	brain
5	chr19:35820000-35829000	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr19:35820400-35827600	Strong transcription	Brain Hippocampus Middle	brain
7	chr19:35820600-35827000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:35822400-35826000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
9	chr19:35824200-35837000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:35824400-35826800	Weak transcription	Spleen	Spleen
11	chr19:35824400-35828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:35824600-35828200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:35824600-35834400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr19:35824800-35829400	Genic enhancers	Primary B cells from cord blood	blood
15	chr19:35825400-35838200	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr19:35825400-35838200	Strong transcription	Ovary	ovary
17	chr19:35825600-35826600	Weak transcription	Brain Substantia Nigra	brain
18	chr19:35825600-35826800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:35825600-35827000	Weak transcription	Brain Cingulate Gyrus	brain

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