Variant report

Variant	rs8101017
Chromosome Location	chr19:41723887-41723888
allele	G/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	REST	chr19:41723853-41725457	A549	lung:	n/a	chr19:41725225-41725238 chr19:41725208-41725218 chr19:41724774-41724787 chr19:41724867-41724876 chr19:41725172-41725185 chr19:41724911-41724929
2	CHD1	chr19:41723521-41728557	IMR90	lung:	n/a	n/a
3	POLR2A	chr19:41723657-41728511	IMR90	lung:	n/a	n/a
4	MAX	chr19:41723526-41726982	A549	lung:	n/a	chr19:41725490-41725499 chr19:41723929-41723936

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41723294..41725372-chr19:41769177..41770875,2	MCF-7	breast:
2	chr19:41723453..41725082-chr19:41766152..41768338,2	MCF-7	breast:

Variant related genes	Relation type
AXL	TF binding region
ENSG00000105323	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12984631	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1709078	0.88[ASN][1000 genomes]
rs1709104	0.90[ASN][1000 genomes]
rs1709106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1709139	0.88[ASN][1000 genomes]
rs28364580	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3097901	0.86[ASN][1000 genomes]
rs338584	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs8101985	0.91[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs8107802	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8192798	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41699600-41724400	Weak transcription	Right Atrium	heart
2	chr19:41700000-41724400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:41700200-41724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:41713200-41724800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr19:41713800-41724200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:41713800-41724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:41713800-41724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:41714000-41724400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr19:41714600-41724400	Weak transcription	Fetal Intestine Small	intestine
10	chr19:41714800-41724200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:41720200-41724200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:41721800-41724400	Weak transcription	K562	blood
13	chr19:41722400-41724000	Bivalent Enhancer	Brain Hippocampus Middle	brain
14	chr19:41722400-41724400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:41722400-41724400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:41722400-41724400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:41722400-41724400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr19:41722400-41724400	Enhancers	NHDF-Ad	bronchial
19	chr19:41722600-41724200	Weak transcription	Colonic Mucosa	Colon
20	chr19:41722600-41724200	Enhancers	A549	lung
21	chr19:41722600-41724400	Enhancers	Fetal Lung	lung
22	chr19:41722800-41724400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:41723000-41724000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:41723000-41724000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:41723000-41724000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:41723000-41724000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:41723000-41724000	Enhancers	Hela-S3	cervix
28	chr19:41723000-41724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:41723000-41724200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:41723000-41724200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:41723000-41724400	Weak transcription	Brain Germinal Matrix	brain
32	chr19:41723000-41724400	Weak transcription	HSMM	muscle
33	chr19:41723200-41724200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:41723200-41724200	Weak transcription	NHLF	lung
35	chr19:41723200-41724400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:41723200-41724400	Weak transcription	Lung	lung
37	chr19:41723200-41724400	Weak transcription	HSMMtube	muscle
38	chr19:41723200-41724400	Weak transcription	Osteobl	bone
39	chr19:41723200-41724800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:41723400-41724200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr19:41723400-41724400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:41723600-41724000	Enhancers	HepG2	liver
43	chr19:41723600-41724400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr19:41723600-41724400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr19:41723600-41724400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:41723600-41724800	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr19:41723600-41725200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:41723800-41724000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:41723800-41724000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr19:41723800-41724000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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