Variant report

Variant	rs8100001
Chromosome Location	chr19:52011151-52011152
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	MAZ	chr19:52010625-52012202	K562	blood:	n/a	chr19:52011273-52011282
2	TRIM28	chr19:52010920-52011800	K562	blood:	n/a	n/a
3	CTCF	chr19:52011089-52011386	K562	blood:	n/a	n/a
4	CEBPB	chr19:52010921-52011724	K562	blood:	n/a	n/a
5	BHLHE40	chr19:52010493-52012020	K562	blood:	n/a	n/a
6	GATA1	chr19:52010857-52011972	PBDE	blood:	n/a	chr19:52011791-52011801 chr19:52011555-52011562 chr19:52011553-52011562 chr19:52011177-52011187
7	UBTF	chr19:52011052-52011646	K562	blood:	n/a	n/a
8	ZNF384	chr19:52010443-52011797	K562	blood:	n/a	n/a
9	GATA2	chr19:52011104-52011785	K562	blood:	n/a	chr19:52011555-52011562 chr19:52011553-52011562 chr19:52011177-52011187
10	TAL1	chr19:52010937-52011966	K562	blood:	n/a	n/a
11	MAFK	chr19:52011097-52011252	K562	blood:	n/a	n/a
12	MAFF	chr19:52010945-52011643	K562	blood:	n/a	n/a
13	JUND	chr19:52010512-52011828	K562	blood:	n/a	n/a
14	UBTF	chr19:52010786-52012065	K562	blood:	n/a	n/a
15	GATA1	chr19:52009384-52012121	K562	blood:	n/a	chr19:52011791-52011801 chr19:52011555-52011562 chr19:52011553-52011562 chr19:52011177-52011187
16	TEAD4	chr19:52010963-52011799	K562	blood:	n/a	n/a
17	CEBPB	chr19:52010837-52011736	K562	blood:	n/a	n/a
18	PML	chr19:52010539-52011920	K562	blood:	n/a	n/a
19	EP300	chr19:52011105-52011698	K562	blood:	n/a	n/a
20	PML	chr19:52010894-52011800	K562	blood:	n/a	n/a
21	CEBPD	chr19:52010979-52011841	K562	blood:	n/a	n/a
22	HMGN3	chr19:52010839-52011855	K562	blood:	n/a	chr19:52011554-52011561
23	MYC	chr19:52010503-52011959	K562	blood:	n/a	chr19:52011273-52011282
24	ZC3H11A	chr19:52011081-52011720	K562	blood:	n/a	n/a
25	CEBPD	chr19:52010911-52011846	K562	blood:	n/a	n/a
26	CCNT2	chr19:52010955-52012605	K562	blood:	n/a	n/a
27	POLR2A	chr19:52010977-52011834	K562	blood:	n/a	n/a
28	EP300	chr19:52010509-52012049	K562	blood:	n/a	n/a
29	ELF1	chr19:52010526-52011351	K562	blood:	n/a	n/a
30	HEY1	chr19:52010931-52011257	K562	blood:	n/a	n/a
31	ARID3A	chr19:52010975-52011724	K562	blood:	n/a	n/a
32	IRF1	chr19:52010489-52011803	K562	blood:	n/a	chr19:52011192-52011201 chr19:52011686-52011695
33	CEBPB	chr19:52011039-52011271	K562	blood:	n/a	n/a
34	TEAD4	chr19:52010430-52012129	K562	blood:	n/a	n/a
35	POLR2A	chr19:52010663-52012610	K562	blood:	n/a	n/a
36	NR2F2	chr19:52010568-52012132	K562	blood:	n/a	n/a
37	TBL1XR1	chr19:52010306-52011708	K562	blood:	n/a	n/a
38	CHD2	chr19:52010965-52011645	K562	blood:	n/a	n/a
39	NR2F2	chr19:52010537-52011764	K562	blood:	n/a	n/a
40	ZBTB7A	chr19:52011019-52011325	K562	blood:	n/a	n/a
41	RCOR1	chr19:52010483-52011796	K562	blood:	n/a	n/a
42	MAX	chr19:52011033-52011819	K562	blood:	n/a	chr19:52011273-52011282
43	HNF4A	chr19:52011042-52011296	HepG2	liver:	n/a	chr19:52011232-52011254 chr19:52011236-52011249 chr19:52011236-52011250 chr19:52011234-52011252 chr19:52011237-52011249 chr19:52011236-52011250 chr19:52011237-52011249 chr19:52011236-52011249 chr19:52011237-52011249 chr19:52011237-52011249 chr19:52011237-52011250 chr19:52011235-52011250 chr19:52011236-52011249 chr19:52011236-52011250
44	IRF1	chr19:52010571-52011722	K562	blood:	n/a	chr19:52011192-52011201 chr19:52011686-52011695
45	TBL1XR1	chr19:52010888-52011730	K562	blood:	n/a	n/a
46	STAT5A	chr19:52010873-52011804	K562	blood:	n/a	n/a
47	NFYB	chr19:52011032-52012063	K562	blood:	n/a	n/a
48	JUN	chr19:52010958-52011706	K562	blood:	n/a	n/a
49	MXI1	chr19:52011093-52011671	K562	blood:	n/a	n/a
50	SPI1	chr19:52010865-52011323	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52009466..52011500-chr19:52096366..52099744,3	K562	blood:
2	chr19:52004923..52007446-chr19:52009404..52012427,3	K562	blood:

Variant related genes	Relation type
ENSG00000268839	TF binding region
SIGLEC27P	TF binding region
ENSG00000269388	Chromatin interaction
ENSG00000254521	Chromatin interaction
ENSG00000167765	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16982740	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16982743	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17305017	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3810105	1.00[ASW][hapmap]
rs56815351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58356296	0.92[ASN][1000 genomes]
rs58758423	1.00[ASN][1000 genomes]
rs59302710	1.00[ASN][1000 genomes]
rs59372820	0.89[ASN][1000 genomes]
rs60467951	0.88[ASN][1000 genomes]
rs60618267	0.88[ASN][1000 genomes]
rs7245807	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7247380	1.00[ASN][1000 genomes]
rs73051351	0.89[ASN][1000 genomes]
rs73560996	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers 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 target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52002600-52015000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:52009400-52011800	Enhancers	Duodenum Mucosa	Duodenum
3	chr19:52009400-52011800	Enhancers	Fetal Intestine Large	intestine
4	chr19:52009400-52012000	Enhancers	Fetal Intestine Small	intestine
5	chr19:52009800-52012400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:52010400-52012200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:52010400-52012400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:52010400-52012600	Flanking Active TSS	K562	blood
9	chr19:52010600-52012000	Enhancers	Stomach Mucosa	stomach
10	chr19:52010800-52011800	Enhancers	Primary hematopoietic stem cells	blood
11	chr19:52010800-52012200	Enhancers	Fetal Muscle Leg	muscle
12	chr19:52010800-52012400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr19:52010800-52012400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr19:52011000-52011800	Enhancers	Primary neutrophils fromperipheralblood	blood

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