Variant report

Variant	rs8108571
Chromosome Location	chr19:35840432-35840433
allele	G/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	POLR2A	chr19:35839645-35843989	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:35834081-35844229	GM12878	blood:	n/a	n/a
3	FOXM1	chr19:35839482-35841286	GM12878	blood:	n/a	n/a
4	STAT5A	chr19:35839426-35841271	GM12878	blood:	n/a	chr19:35839815-35839827 chr19:35840690-35840698
5	POLR2A	chr19:35836339-35843943	GM19193	blood:	n/a	n/a
6	PML	chr19:35836159-35841607	GM12878	blood:	n/a	n/a
7	RUNX3	chr19:35839390-35840960	GM12878	blood:	n/a	n/a
8	ELF1	chr19:35839686-35840619	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:35836392-35841540	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr19:35839951-35840588	GM12878	blood:	n/a	n/a
11	BCLAF1	chr19:35839338-35840864	GM12878	blood:	n/a	chr19:35840358-35840367 chr19:35840195-35840204
12	PML	chr19:35840190-35840481	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:35839333-35841827	GM12892	blood:	n/a	n/a
14	RUNX3	chr19:35839407-35841287	GM12878	blood:	n/a	n/a
15	NFATC1	chr19:35836440-35841654	GM12878	blood:	n/a	n/a
16	MTA3	chr19:35836288-35841818	GM12878	blood:	n/a	n/a
17	BCL3	chr19:35839517-35841204	GM12878	blood:	n/a	chr19:35840358-35840367 chr19:35841080-35841089 chr19:35840195-35840204
18	POLR2A	chr19:35834959-35844013	GM12892	blood:	n/a	n/a
19	POLR2A	chr19:35836351-35841707	GM12891	blood:	n/a	n/a
20	POLR2A	chr19:35836400-35842018	GM12892	blood:	n/a	n/a
21	USF2	chr19:35839679-35840723	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:35836358-35841827	GM19099	blood:	n/a	n/a
23	POLR2A	chr19:35836375-35842048	GM15510	blood:	n/a	n/a
24	ATF2	chr19:35840240-35840884	GM12878	blood:	n/a	n/a
25	MTA3	chr19:35839416-35841352	GM12878	blood:	n/a	n/a
26	NFATC1	chr19:35839390-35841462	GM12878	blood:	n/a	n/a
27	POLR2A	chr19:35836242-35844116	GM12891	blood:	n/a	n/a
28	POLR2A	chr19:35836250-35844092	GM12892	blood:	n/a	n/a
29	NFIC	chr19:35839588-35840885	GM12878	blood:	n/a	n/a
30	ELF1	chr19:35839701-35840786	GM12878	blood:	n/a	n/a
31	STAT5A	chr19:35836555-35841451	GM12878	blood:	n/a	chr19:35839098-35839121 chr19:35839815-35839827 chr19:35840690-35840698
32	POLR2A	chr19:35836401-35841763	GM12878	blood:	n/a	n/a
33	CTCF	chr19:35840360-35840510	GM12872	blood:	n/a	n/a
34	POLR2A	chr19:35839527-35841548	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:35839351-35842311	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:35839584-35841082	GM12891	blood:	n/a	n/a
37	POLR2A	chr19:35836306-35842609	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:35836290-35841956	GM12891	blood:	n/a	n/a
39	POLR2A	chr19:35836513-35841122	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:35836343-35844102	GM18505	blood:	n/a	n/a
41	POLR2A	chr19:35836249-35844202	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35839659..35842221-chr19:36034910..36036786,2	MCF-7	breast:
2	chr19:35838211..35841126-chr19:35842051..35843758,2	K562	blood:
3	chr19:35738565..35740290-chr19:35840353..35842474,2	MCF-7	breast:
4	chr19:35835322..35837514-chr19:35839122..35841036,2	K562	blood:
5	chr19:35760181..35760937-chr19:35840277..35841170,2	K562	blood:
6	chr19:35838470..35841134-chr19:35848339..35849864,2	MCF-7	breast:
7	chr19:35758781..35763844-chr19:35840402..35843897,5	K562	blood:

Variant related genes	Relation type
FFAR1	TF binding region
ENSG00000105677	Chromatin interaction
ENSG00000263397	Chromatin interaction
ENSG00000126266	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000185897	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10423648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10426830	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16970264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58174206	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247137	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
9	nsv1067129	chr19:35827036-35849310	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv173	chr19:35837405-35866835	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv2471	chr19:35837405-35903115	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35817600-35844000	Weak transcription	Brain Angular Gyrus	brain
2	chr19:35836800-35843800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:35836800-35848000	Weak transcription	Brain Substantia Nigra	brain
4	chr19:35837400-35840800	Enhancers	Spleen	Spleen
5	chr19:35837600-35843600	Weak transcription	Brain Anterior Caudate	brain
6	chr19:35838200-35840800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr19:35838200-35849200	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:35838400-35842200	Enhancers	Primary B cells from peripheral blood	blood
9	chr19:35838600-35843600	Weak transcription	K562	blood
10	chr19:35838800-35841000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:35839000-35842600	Enhancers	Primary B cells from cord blood	blood
12	chr19:35839000-35843600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:35839000-35843600	Enhancers	GM12878-XiMat	blood
14	chr19:35839200-35841200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:35839200-35843600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:35839200-35843600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr19:35839200-35843600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:35839200-35843600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:35839200-35843600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:35839200-35843800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:35839200-35848600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr19:35839200-35848800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:35839600-35843600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:35839800-35841000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:35839800-35843600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr19:35840000-35840600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr19:35840000-35840600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr19:35840000-35840600	Enhancers	HepG2	liver
29	chr19:35840000-35841000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:35840000-35841600	Enhancers	Ovary	ovary
31	chr19:35840200-35843400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:35840400-35840600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:35840400-35843600	Weak transcription	Primary hematopoietic stem cells	blood

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