Variant report

Variant	rs57104528
Chromosome Location	chr19:35886979-35886980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr19:35886934-35887044	HepG2	liver:	n/a	n/a
2	FOXA1	chr19:35886776-35887192	HepG2	liver:	n/a	n/a
3	FOXA1	chr19:35886811-35887164	HepG2	liver:	n/a	n/a
4	RFX5	chr19:35886955-35887036	HepG2	liver:	n/a	n/a
5	SETDB1	chr19:35886844-35887141	U2OS	brain:	n/a	n/a
6	FOXA2	chr19:35886886-35887183	HepG2	liver:	n/a	n/a
7	EP300	chr19:35886850-35887010	HepG2	liver:	n/a	n/a
8	MAZ	chr19:35886911-35887063	HepG2	liver:	n/a	n/a
9	KAP1	chr19:35886670-35887171	HEK293	kidney:	n/a	n/a
10	FOXA1	chr19:35886779-35887348	HepG2	liver:	n/a	n/a
11	ARID3A	chr19:35886903-35887125	HepG2	liver:	n/a	n/a
12	MAFF	chr19:35886887-35887083	HepG2	liver:	n/a	n/a
13	MYC	chr19:35886899-35887021	HepG2	liver:	n/a	n/a
14	KAP1	chr19:35886680-35887165	U2OS	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35881601..35884861-chr19:35885155..35888151,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205786	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58935762	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60890836	1.00[AMR][1000 genomes]
rs73595434	1.00[AMR][1000 genomes]
rs73595439	1.00[AMR][1000 genomes]
rs73601118	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
9	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv911625	chr19:35856925-35890205	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv911626	chr19:35856925-35896467	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv911627	chr19:35856925-35921266	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv9714	chr19:35884836-35887576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35884200-35890800	Weak transcription	Right Atrium	heart
2	chr19:35886000-35887600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:35886200-35887800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr19:35886200-35887800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr19:35886400-35887000	Enhancers	Colon Smooth Muscle	Colon
6	chr19:35886600-35887000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:35886600-35887000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:35886600-35887000	Enhancers	Brain Anterior Caudate	brain
9	chr19:35886600-35887000	Enhancers	Brain Hippocampus Middle	brain
10	chr19:35886600-35887000	Enhancers	Fetal Brain Male	brain
11	chr19:35886600-35887000	Enhancers	Fetal Brain Female	brain
12	chr19:35886600-35887000	Enhancers	Fetal Intestine Large	intestine
13	chr19:35886600-35887000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr19:35886600-35887000	Enhancers	Fetal Muscle Leg	muscle
15	chr19:35886600-35887000	Enhancers	Fetal Stomach	stomach
16	chr19:35886600-35887000	Enhancers	Lung	lung
17	chr19:35886600-35887000	Bivalent Enhancer	Hela-S3	cervix
18	chr19:35886600-35887000	Flanking Active TSS	HepG2	liver
19	chr19:35886600-35887200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr19:35886600-35887200	Enhancers	Fetal Lung	lung
21	chr19:35886600-35887200	Enhancers	Placenta	Placenta
22	chr19:35886600-35887200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr19:35886600-35887200	Enhancers	Stomach Mucosa	stomach
24	chr19:35886600-35887200	Enhancers	GM12878-XiMat	blood
25	chr19:35886600-35887600	Enhancers	Fetal Intestine Small	intestine
26	chr19:35886600-35887600	Enhancers	Pancreas	Pancrea
27	chr19:35886600-35888000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr19:35886800-35887000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:35886800-35887000	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr19:35886800-35887200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr19:35886800-35887200	Enhancers	Brain Cingulate Gyrus	brain
32	chr19:35886800-35887200	Enhancers	Brain Substantia Nigra	brain
33	chr19:35886800-35887200	Enhancers	Spleen	Spleen
34	chr19:35886800-35899200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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