Variant report

Variant	rs2074297
Chromosome Location	chr19:19373842-19373843
allele	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	MAX	chr19:19373494-19373930	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:19373820-19373970	HFF-Myc	foreskin:	n/a	n/a
3	CTBP2	chr19:19371708-19373865	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr19:19373499-19373856	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19371179..19375166-chr19:19377084..19380673,3	K562	blood:
2	chr19:19371873..19374134-chr19:19452929..19454746,2	K562	blood:

Variant related genes	Relation type
HAPLN4	TF binding region
ENSG00000129933	Chromatin interaction
ENSG00000213996	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2074304	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2074305	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2074307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106864	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57653580	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57915152	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58196025	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60892661	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61186263	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7250312	0.89[AMR][1000 genomes]
rs8102280	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911306	chr19:19366643-19391838	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19371400-19374000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:19371400-19374000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:19371400-19374000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:19371600-19374000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:19371800-19374000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr19:19371800-19374200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:19372800-19374000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:19372800-19374000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr19:19373000-19374000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr19:19373000-19384000	Weak transcription	Pancreas	Pancrea
11	chr19:19373200-19374000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:19373200-19374000	Active TSS	Brain Angular Gyrus	brain
13	chr19:19373200-19374000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr19:19373200-19374200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr19:19373200-19375000	Weak transcription	Liver	Liver
16	chr19:19373400-19374000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:19373400-19374000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:19373600-19374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:19373600-19374000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr19:19373800-19374000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr19:19373800-19374000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:19373800-19374000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
23	chr19:19373800-19374000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:19373800-19374200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:19373800-19374400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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