Variant report

Variant	rs73532149
Chromosome Location	chr19:19630591-19630592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr19:19630571-19630744	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:19629852-19630763	K562	blood:	n/a	n/a
3	CTCF	chr19:19630560-19630710	GM12866	blood:	n/a	n/a
4	POLR2A	chr19:19630285-19630605	K562	blood:	n/a	n/a
5	POLR2A	chr19:19630056-19630729	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19628992..19634294-chr19:19634431..19640068,9	K562	blood:
2	chr19:19630106..19632740-chr19:19655430..19658007,2	K562	blood:
3	chr19:19630109..19632757-chr19:19650761..19652329,2	MCF-7	breast:
4	chr19:19626638..19628267-chr19:19629000..19631454,2	MCF-7	breast:
5	chr19:19627013..19628859-chr19:19629053..19631884,3	MCF-7	breast:

No data

Variant related genes	Relation type
TSSK6	TF binding region
ENSG00000258674	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000250067	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000160161	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11878997	1.00[AMR][1000 genomes]
rs11879483	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28808149	1.00[AMR][1000 genomes]
rs56786913	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57321153	1.00[AMR][1000 genomes]
rs58179637	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58210809	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432787	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60542032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60635681	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61418834	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61489113	0.84[AFR][1000 genomes]
rs61687899	1.00[AMR][1000 genomes]
rs7247854	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524674	1.00[AMR][1000 genomes]
rs73524684	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528412	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530412	1.00[AMR][1000 genomes]
rs73530428	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530433	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532145	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532150	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537224	0.85[AFR][1000 genomes]
rs73539469	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19627600-19636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:19628000-19634800	Weak transcription	Fetal Kidney	kidney
3	chr19:19628000-19635000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr19:19628000-19636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:19628000-19638000	Weak transcription	Fetal Lung	lung
6	chr19:19628000-19640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:19628200-19631600	Weak transcription	NH-A	brain
8	chr19:19628200-19636200	Weak transcription	Fetal Heart	heart
9	chr19:19628200-19636200	Weak transcription	Right Atrium	heart
10	chr19:19628200-19642800	Weak transcription	Stomach Mucosa	stomach
11	chr19:19628200-19643000	Weak transcription	HUVEC	blood vessel
12	chr19:19628400-19631600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:19628400-19632000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:19628400-19632200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:19628400-19632400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:19628400-19634800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr19:19628400-19639200	Weak transcription	Psoas Muscle	Psoas
18	chr19:19628400-19640800	Weak transcription	HMEC	breast
19	chr19:19628400-19642800	Weak transcription	Hela-S3	cervix
20	chr19:19628600-19631200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:19628600-19633000	Strong transcription	Fetal Stomach	stomach
22	chr19:19628600-19635800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:19628600-19636400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:19628800-19632200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:19629000-19632400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:19629000-19632800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:19629000-19636800	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:19629000-19637200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:19629000-19638600	Weak transcription	HepG2	liver
30	chr19:19629000-19643600	Weak transcription	Small Intestine	intestine
31	chr19:19629200-19631600	Weak transcription	Primary B cells from cord blood	blood
32	chr19:19629200-19632000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:19629200-19632800	Strong transcription	Fetal Intestine Small	intestine
34	chr19:19629800-19630600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:19629800-19630600	Genic enhancers	Dnd41	blood
36	chr19:19629800-19630800	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr19:19629800-19630800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr19:19629800-19631200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:19629800-19631600	Strong transcription	Thymus	Thymus
40	chr19:19629800-19631800	Strong transcription	Fetal Thymus	thymus
41	chr19:19629800-19632000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr19:19629800-19632200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:19629800-19632400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:19630000-19630600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:19630000-19630600	Genic enhancers	Brain Germinal Matrix	brain
46	chr19:19630000-19630600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:19630000-19630600	Genic enhancers	Fetal Brain Female	brain
48	chr19:19630000-19630600	Genic enhancers	Fetal Muscle Leg	muscle
49	chr19:19630000-19630600	Genic enhancers	Right Ventricle	heart
50	chr19:19630000-19630800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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