Variant report

Variant	rs61498421
Chromosome Location	chr19:23253962-23253963
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	CTCF	chr19:23253940-23254090	GM12871	blood:	n/a	n/a
2	ESRRA	chr19:23253864-23254540	GM12878	blood:	n/a	chr19:23254194-23254207
3	HCFC1	chr19:23253921-23254568	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr19:23253928-23254483	MCF-7	breast:	n/a	n/a
5	POLR2A	chr19:23253945-23254488	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:156184731..156186500-chr19:23252697..23254216,3	K562	blood:
2	chr19:23252878..23255716-chr19:23257879..23260190,3	MCF-7	breast:
3	chr19:23252641..23255002-chr19:23257415..23259086,2	K562	blood:

Variant related genes	Relation type
ENSG00000267886	TF binding region
ZNF730	TF binding region
ENSG00000183850	Chromatin interaction
ENSG00000267886	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56227837	0.86[AFR][1000 genomes]
rs58285753	0.91[AFR][1000 genomes]
rs61456483	0.86[AFR][1000 genomes]
rs73555466	0.91[AFR][1000 genomes]
rs73555470	0.91[AFR][1000 genomes]
rs73555471	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34470	chr19:22922549-23659458	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
2	esv34907	chr19:22922549-23683097	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
3	nsv9686	chr19:22989454-23653750	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
4	nsv1058070	chr19:22994261-23315207	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv817826	chr19:23000745-23620632	Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
6	esv3693269	chr19:23000745-23652839	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
7	esv2758491	chr19:23071299-23940467	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
8	nsv1065157	chr19:23091826-23812323	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
9	nsv543959	chr19:23091826-23812323	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
10	esv3424935	chr19:23111817-23495542	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	esv3427443	chr19:23114406-23283406	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	esv3504832	chr19:23114495-23397124	Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	esv3504833	chr19:23114495-23397124	Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv1059365	chr19:23134397-23293848	Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv1065637	chr19:23138735-23298263	Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv469842	chr19:23164234-23322414	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv482669	chr19:23164234-23322414	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv932212	chr19:23170413-23372286	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	esv3413015	chr19:23172466-23416111	Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
20	nsv833788	chr19:23179045-23328665	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv432041	chr19:23190534-23260883	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv1066742	chr19:23217251-23296227	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv543960	chr19:23217251-23296227	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	esv3362670	chr19:23227492-23265987	Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	esv3334703	chr19:23235234-23310623	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	esv3429878	chr19:23246650-23590744	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers 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	52 gene(s)	inside rSNPs	diseases
27	esv3410568	chr19:23246670-23590714	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
28	esv3433243	chr19:23249108-23585814	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23253000-23254400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr19:23253000-23254400	Active TSS	Muscle Satellite Cultured Cells	--
3	chr19:23253000-23254600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:23253000-23254600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:23253200-23254000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:23253200-23254000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:23253200-23254000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:23253200-23254000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
9	chr19:23253200-23254000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr19:23253200-23254000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
11	chr19:23253200-23254000	Active TSS	Right Atrium	heart
12	chr19:23253200-23254200	Active TSS	Primary B cells from cord blood	blood
13	chr19:23253200-23254400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr19:23253200-23254400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:23253200-23254400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr19:23253200-23254400	ZNF genes & repeats	Lung	lung
17	chr19:23253200-23254400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
18	chr19:23253200-23254600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:23253200-23254600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr19:23253200-23254600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:23253200-23254600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr19:23253200-23254600	Flanking Active TSS	Right Ventricle	heart
23	chr19:23253400-23254000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr19:23253400-23254000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
25	chr19:23253400-23254000	Bivalent Enhancer	Left Ventricle	heart
26	chr19:23253400-23254000	Bivalent Enhancer	Spleen	Spleen
27	chr19:23253400-23254200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr19:23253400-23254200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:23253400-23254200	Enhancers	Fetal Brain Male	brain
30	chr19:23253400-23254200	Weak transcription	Fetal Kidney	kidney
31	chr19:23253400-23254200	Bivalent/Poised TSS	Psoas Muscle	Psoas
32	chr19:23253400-23254400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr19:23253400-23254400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:23253400-23254400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:23253400-23254400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr19:23253400-23254400	Flanking Bivalent TSS/Enh	Placenta	Placenta
37	chr19:23253400-23254400	ZNF genes & repeats	Fetal Thymus	thymus
38	chr19:23253400-23254400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
39	chr19:23253400-23254600	Active TSS	Aorta	Aorta
40	chr19:23253400-23254600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr19:23253400-23254600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr19:23253400-23254600	Active TSS	Osteobl	bone
43	chr19:23253600-23254000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:23253600-23254000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr19:23253600-23254000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:23253600-23254000	Active TSS	Rectal Smooth Muscle	rectum
47	chr19:23253600-23254200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
48	chr19:23253600-23254400	ZNF genes & repeats	Pancreas	Pancrea
49	chr19:23253600-23254600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr19:23253600-23254600	Active TSS	Colonic Mucosa	Colon

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