Variant report

Variant	rs305955
Chromosome Location	chr19:41678002-41678003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41676947..41678469-chr19:41769052..41771501,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105323	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11671185	0.83[ASN][1000 genomes]
rs1645685	0.83[ASN][1000 genomes]
rs1645686	0.83[ASN][1000 genomes]
rs1709116	0.84[ASN][1000 genomes]
rs1709125	0.81[ASN][1000 genomes]
rs2432221	0.84[ASN][1000 genomes]
rs2458634	0.82[ASN][1000 genomes]
rs305954	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs305956	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs305961	0.83[ASN][1000 genomes]

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	esv3391909	chr19:41632754-41688263	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv911767	chr19:41649516-41716271	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41662600-41678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:41665400-41678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:41665400-41678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:41665400-41678400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:41665400-41678600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:41665800-41679000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:41666000-41681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:41666400-41678400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:41671800-41678400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:41672000-41679000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr19:41672000-41680800	Weak transcription	Hela-S3	cervix
12	chr19:41673600-41678400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:41673600-41678400	Weak transcription	Colonic Mucosa	Colon
14	chr19:41673800-41678200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:41673800-41678400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:41673800-41678400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr19:41673800-41678400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:41673800-41678400	Weak transcription	A549	lung
19	chr19:41673800-41678800	Weak transcription	Gastric	stomach
20	chr19:41675400-41678400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:41676000-41678400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:41677200-41678400	Weak transcription	HepG2	liver
23	chr19:41677200-41678800	Active TSS	Fetal Stomach	stomach
24	chr19:41677600-41678400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr19:41677600-41678400	Weak transcription	Stomach Mucosa	stomach
26	chr19:41677600-41681600	Enhancers	Fetal Intestine Large	intestine
27	chr19:41677800-41678400	Enhancers	Fetal Intestine Small	intestine
28	chr19:41678000-41678800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr19:41678000-41680600	Enhancers	Rectal Mucosa Donor 31	rectum

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