Variant report

Variant	rs56214747
Chromosome Location	chr19:52848576-52848577
allele	A/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	JUN	chr19:52848489-52848776	HepG2	liver:	n/a	chr19:52848608-52848621
2	JUND	chr19:52848436-52848780	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ZNF610	TF binding region
ENSG00000269535	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58276474	0.83[AMR][1000 genomes]
rs73934432	0.83[AMR][1000 genomes]
rs73934433	0.83[AMR][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	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv458742	chr19:52808986-52866171	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
8	nsv580008	chr19:52808986-52866171	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	esv3401193	chr19:52818960-52909749	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv912300	chr19:52832830-52928039	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv912301	chr19:52835210-52914233	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52840400-52857400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:52840400-52865400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:52840600-52850400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:52840600-52850800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:52840600-52850800	Weak transcription	Ovary	ovary
6	chr19:52840600-52851000	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:52840600-52851000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr19:52840600-52851000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr19:52840600-52851200	Weak transcription	Placenta	Placenta
10	chr19:52840600-52851600	Weak transcription	Left Ventricle	heart
11	chr19:52840600-52853200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr19:52840600-52854800	Weak transcription	Gastric	stomach
13	chr19:52840600-52856800	Weak transcription	HSMM	muscle
14	chr19:52840600-52858800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:52840600-52861200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:52840800-52850200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:52840800-52850400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:52840800-52850800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:52840800-52851000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:52840800-52851000	Weak transcription	Fetal Muscle Leg	muscle
21	chr19:52840800-52851200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:52840800-52851400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:52840800-52851600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:52840800-52857000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:52840800-52857000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:52841000-52850800	Weak transcription	Primary T cells from cord blood	blood
27	chr19:52841000-52850800	Weak transcription	Fetal Brain Male	brain
28	chr19:52841200-52850800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:52841200-52850800	Weak transcription	Fetal Kidney	kidney
30	chr19:52841400-52850200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:52841400-52857000	Weak transcription	Right Ventricle	heart
32	chr19:52841600-52850400	Weak transcription	Dnd41	blood
33	chr19:52841600-52850800	Weak transcription	Brain Angular Gyrus	brain
34	chr19:52841800-52850800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:52842000-52851600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr19:52842400-52850200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:52842400-52850400	Weak transcription	Fetal Brain Female	brain
38	chr19:52842400-52851600	Weak transcription	Brain Germinal Matrix	brain
39	chr19:52842600-52850800	Weak transcription	HSMMtube	muscle
40	chr19:52844200-52848800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:52845200-52848800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:52847200-52850200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:52847200-52850400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:52847200-52850400	Weak transcription	Brain Substantia Nigra	brain
45	chr19:52847200-52850800	Weak transcription	Brain Anterior Caudate	brain
46	chr19:52847200-52850800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:52847200-52850800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr19:52847200-52851000	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:52847200-52860000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:52847400-52850200	Weak transcription	Fetal Stomach	stomach

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