Variant report

Variant	rs73939649
Chromosome Location	chr19:45684634-45684635
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	POLR2A	chr19:45684142-45684820	K562	blood:	n/a	n/a
2	POLR2A	chr19:45684024-45684790	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:45684146-45684958	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:45684307-45685607	K562	blood:	n/a	n/a
5	POLR2A	chr19:45683998-45684903	K562	blood:	n/a	n/a
6	POLR2A	chr19:45684498-45684674	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45594755..45598539-chr19:45681810..45685400,4	K562	blood:
2	chr19:45594586..45596499-chr19:45682181..45685187,4	MCF-7	breast:

Variant related genes	Relation type
TRAPPC6A	TF binding region
ENSG00000104866	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16979659	1.00[AMR][1000 genomes]
rs16979703	1.00[AMR][1000 genomes]
rs56213215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56405239	1.00[AMR][1000 genomes]
rs57454146	1.00[AMR][1000 genomes]
rs58584483	1.00[AMR][1000 genomes]
rs60509946	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60530130	1.00[AMR][1000 genomes]
rs73939603	1.00[AMR][1000 genomes]
rs73939647	1.00[AMR][1000 genomes]
rs73939648	0.90[AFR][1000 genomes]
rs73941103	1.00[AMR][1000 genomes]
rs73941104	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic 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	30 gene(s)	inside rSNPs	diseases
4	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1794498	chr19:45673701-45691040	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1005203	chr19:45675812-45684868	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
8	esv2422482	chr19:45676705-45769805	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer 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
9	esv1794901	chr19:45681661-45690775	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv833844	chr19:45684309-45887406	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45682600-45686600	Weak transcription	Fetal Kidney	kidney
2	chr19:45682800-45685200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr19:45683000-45685000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr19:45683200-45684800	Enhancers	Stomach Mucosa	stomach
5	chr19:45683200-45688200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:45683200-45690400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:45683400-45684800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:45683400-45684800	Genic enhancers	Brain Substantia Nigra	brain
9	chr19:45683400-45684800	Enhancers	Pancreas	Pancrea
10	chr19:45683400-45685000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:45683400-45685000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:45683400-45685000	Genic enhancers	Lung	lung
13	chr19:45683400-45685200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr19:45683400-45685200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr19:45683400-45685200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
16	chr19:45683400-45685600	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr19:45683400-45688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:45683400-45690600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:45683400-45690800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:45683400-45693200	Weak transcription	Aorta	Aorta
21	chr19:45683600-45684800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:45683600-45684800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:45683600-45684800	Genic enhancers	Brain Angular Gyrus	brain
24	chr19:45683600-45685000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:45683600-45685000	Genic enhancers	Ovary	ovary
26	chr19:45683600-45685000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr19:45683600-45685200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr19:45683600-45685200	Genic enhancers	Placenta	Placenta
29	chr19:45683600-45685400	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:45683600-45686200	Weak transcription	Fetal Lung	lung
31	chr19:45683800-45684800	Enhancers	Right Atrium	heart
32	chr19:45683800-45685000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr19:45683800-45685000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:45683800-45685000	Genic enhancers	Fetal Intestine Small	intestine
35	chr19:45683800-45685000	Genic enhancers	Right Ventricle	heart
36	chr19:45683800-45685000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr19:45683800-45685200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr19:45683800-45685400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr19:45683800-45685800	Weak transcription	NH-A	brain
40	chr19:45683800-45686200	Weak transcription	HSMM	muscle
41	chr19:45683800-45686600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr19:45684000-45684800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:45684000-45684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:45684000-45684800	Genic enhancers	Colonic Mucosa	Colon
45	chr19:45684000-45684800	Enhancers	Hela-S3	cervix
46	chr19:45684000-45685000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr19:45684000-45685000	Enhancers	HepG2	liver
48	chr19:45684000-45685200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:45684000-45685200	Genic enhancers	Rectal Mucosa Donor 29	rectum
50	chr19:45684000-45685400	Strong transcription	Fetal Muscle Leg	muscle

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