Variant report

Variant	rs16970221
Chromosome Location	chr19:35822494-35822495
allele	A/C/G
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	POLR2A	chr19:35819647-35826483	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:35819682-35826512	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:35819659-35823251	GM15510	blood:	n/a	n/a
4	EBF1	chr19:35821885-35822735	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:35819642-35823218	GM18505	blood:	n/a	n/a
6	POLR2A	chr19:35819666-35823196	GM19099	blood:	n/a	n/a
7	POLR2A	chr19:35819733-35826364	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:35819621-35823234	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:35819559-35823266	GM12892	blood:	n/a	n/a
10	POLR2A	chr19:35819750-35822507	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:35819667-35823004	Raji	blood:	n/a	n/a
12	PAX5	chr19:35822375-35822751	GM12878	blood:	n/a	chr19:35822397-35822406
13	PAX5	chr19:35822348-35822777	GM12878	blood:	n/a	chr19:35822397-35822406
14	PAX5	chr19:35822249-35823068	GM12878	blood:	n/a	chr19:35822397-35822406
15	POLR2A	chr19:35819671-35823322	GM12892	blood:	n/a	n/a
16	POLR2A	chr19:35819664-35827598	GM12878	blood:	n/a	n/a
17	NFATC1	chr19:35821062-35822612	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:35822381-35823212	GM12891	blood:	n/a	n/a
19	POLR2A	chr19:35822351-35823129	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:35819479-35823273	GM12878	blood:	n/a	n/a
21	MTA3	chr19:35819478-35825817	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:35821243-35823184	GM19193	blood:	n/a	n/a
23	POLR2A	chr19:35822341-35823119	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:35819625-35826402	GM12878	blood:	n/a	n/a
25	PML	chr19:35819521-35823337	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:35821043-35826375	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35808879..35811383-chr19:35819038..35823207,3	K562	blood:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56778651	1.00[AMR][1000 genomes]
rs61739448	1.00[AMR][1000 genomes]
rs7249002	1.00[AMR][1000 genomes]
rs73927987	1.00[AMR][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:22 , 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	chr19:35818800-35823600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:35818800-35836600	Weak transcription	Brain Anterior Caudate	brain
6	chr19:35819600-35822800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr19:35819600-35824600	Strong transcription	Ovary	ovary
8	chr19:35820000-35823800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:35820000-35829000	Strong transcription	Brain Inferior Temporal Lobe	brain
10	chr19:35820400-35827600	Strong transcription	Brain Hippocampus Middle	brain
11	chr19:35820600-35823400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:35820600-35823800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:35820600-35823800	Weak transcription	Spleen	Spleen
14	chr19:35820600-35827000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:35820800-35823600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:35821000-35825400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
17	chr19:35821200-35823600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:35821400-35823400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:35821600-35823600	Weak transcription	Brain Substantia Nigra	brain
20	chr19:35822400-35823400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:35822400-35823600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:35822400-35826000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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