Variant report

Variant	rs61351973
Chromosome Location	chr19:56823977-56823978
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	USF1	chr19:56823805-56824046	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr19:56823696-56823985	K562	blood:	n/a	n/a
3	USF2	chr19:56823713-56824069	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56650916..56653050-chr19:56823772..56825517,2	K562	blood:

Variant related genes	Relation type
ENSG00000267549	TF binding region
ENSG00000267298	TF binding region
ENSG00000167685	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2304121	0.86[ASN][1000 genomes]
rs6509989	0.94[ASN][1000 genomes]
rs6509990	0.94[ASN][1000 genomes]
rs73937232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
4	nsv526325	chr19:56741186-56852035	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1058026	chr19:56799847-56833153	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1067261	chr19:56820571-56854916	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56772800-56824200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:56782800-56825200	Weak transcription	Psoas Muscle	Psoas
3	chr19:56783000-56825000	Weak transcription	Stomach Mucosa	stomach
4	chr19:56788200-56824400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:56799800-56825200	Weak transcription	Right Atrium	heart
6	chr19:56803000-56824200	Weak transcription	Fetal Thymus	thymus
7	chr19:56803200-56825000	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:56804400-56825000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:56804600-56825000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr19:56805200-56825400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:56806000-56825000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:56806400-56825200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:56806400-56825200	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:56806400-56825200	Weak transcription	NH-A	brain
15	chr19:56806600-56825000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:56807000-56825200	Weak transcription	NHLF	lung
17	chr19:56807800-56825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:56807800-56825200	Weak transcription	Brain Germinal Matrix	brain
19	chr19:56807800-56825200	Weak transcription	Colonic Mucosa	Colon
20	chr19:56807800-56825200	Weak transcription	Esophagus	oesophagus
21	chr19:56808200-56825000	Weak transcription	HMEC	breast
22	chr19:56810000-56825200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:56813600-56825000	Weak transcription	Fetal Heart	heart
24	chr19:56813600-56825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:56813600-56825200	Weak transcription	Left Ventricle	heart
26	chr19:56813800-56825000	Weak transcription	HUVEC	blood vessel
27	chr19:56814000-56825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:56814200-56825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:56814200-56825200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:56814400-56824800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:56814400-56825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr19:56814400-56825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:56814400-56825200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:56814400-56825400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:56814600-56825000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:56815400-56825000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:56815600-56825000	Weak transcription	HSMMtube	muscle
38	chr19:56815600-56825200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:56816200-56825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:56816400-56825000	Weak transcription	Brain Substantia Nigra	brain
41	chr19:56816400-56825200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr19:56816800-56825000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr19:56817200-56824200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:56817400-56825200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr19:56817600-56824200	Weak transcription	Lung	lung
46	chr19:56817600-56824400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:56817600-56825000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:56817600-56825200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:56817600-56825200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr19:56817600-56825200	Weak transcription	Pancreas	Pancrea

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