Variant report

Variant	rs16995841
Chromosome Location	chr19:19103635-19103636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19103318-19103900	K562	blood:	n/a	n/a
2	POLR2A	chr19:19103385-19103853	K562	blood:	n/a	n/a
3	POLR2A	chr19:19103470-19104058	K562	blood:	n/a	n/a
4	POLR2A	chr19:19103570-19104145	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr19:19103348-19103765	K562	blood:	n/a	n/a
6	POLR2A	chr19:19103311-19103782	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19099305..19102487-chr19:19102568..19107094,5	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARMC6-1	chr19:19103397-19104419	ENSG00000245755
2	lnc-ARMC6-1	chr19:19103397-19104419	ENSG00000269131.1

No data

Variant related genes	Relation type
SUGP2	TF binding region
ENSG00000269131	Chromatin interaction
ENSG00000064607	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10404860	0.90[MKK][hapmap]
rs16995891	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16995892	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2238670	1.00[MEX][hapmap]
rs34471092	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8104177	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv2435	chr19:19077432-19122579	Strong transcription Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr19:19084200-19107800	Weak transcription	Right Atrium	heart
2	chr19:19096200-19104000	Weak transcription	Primary B cells from cord blood	blood
3	chr19:19096800-19104000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:19098000-19103800	Weak transcription	NHEK	skin
5	chr19:19098000-19106600	Weak transcription	Fetal Kidney	kidney
6	chr19:19098200-19104600	Weak transcription	Stomach Mucosa	stomach
7	chr19:19098600-19109800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:19099200-19103800	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:19099400-19105400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:19100200-19105800	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr19:19100200-19117400	Strong transcription	Fetal Intestine Small	intestine
12	chr19:19100600-19106000	Strong transcription	Fetal Intestine Large	intestine
13	chr19:19100600-19122800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:19100800-19106400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:19100800-19106400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr19:19100800-19106600	Strong transcription	Fetal Muscle Leg	muscle
17	chr19:19101000-19103800	Strong transcription	Brain Germinal Matrix	brain
18	chr19:19101000-19105600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:19101000-19105600	Strong transcription	Fetal Stomach	stomach
20	chr19:19101000-19105800	Strong transcription	Brain Hippocampus Middle	brain
21	chr19:19101000-19106400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:19101000-19106400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:19101000-19106400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:19101000-19107200	Strong transcription	Esophagus	oesophagus
25	chr19:19101000-19109400	Strong transcription	Lung	lung
26	chr19:19101000-19109800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:19101000-19114000	Weak transcription	Small Intestine	intestine
28	chr19:19101000-19125600	Strong transcription	Thymus	Thymus
29	chr19:19101000-19133000	Strong transcription	Fetal Thymus	thymus
30	chr19:19101200-19106000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:19101200-19106200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr19:19101200-19106400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr19:19101200-19106400	Strong transcription	Brain Substantia Nigra	brain
34	chr19:19101200-19108200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr19:19101200-19108400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:19101200-19108400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:19101200-19109400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:19101200-19109800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:19101200-19109800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:19101200-19110400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:19101200-19126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:19101200-19130400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr19:19101200-19140200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:19101400-19105800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:19101400-19106200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:19101400-19106200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:19101400-19106200	Strong transcription	Placenta	Placenta
48	chr19:19101400-19106200	Strong transcription	NHDF-Ad	bronchial
49	chr19:19101400-19106400	Strong transcription	Osteobl	bone
50	chr19:19101400-19106800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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