Variant report

Variant	rs4803440
Chromosome Location	chr19:41674278-41674279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10421210	0.81[ASN][1000 genomes]
rs10469283	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4802110	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803441	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803443	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56221133	0.90[ASN][1000 genomes]
rs56699599	0.90[ASN][1000 genomes]
rs56942707	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57837550	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58073287	0.92[ASN][1000 genomes]
rs58716442	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61154238	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61708463	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73931437	0.84[ASN][1000 genomes]
rs8100794	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101139	0.82[AMR][1000 genomes]
rs8105815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:28 , 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	chr19:41664200-41675600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:41665400-41678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:41665400-41678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:41665400-41678400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:41665400-41678600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:41665800-41679000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:41666000-41681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:41666400-41678400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:41671200-41675200	Enhancers	Stomach Mucosa	stomach
11	chr19:41671400-41675400	Weak transcription	Fetal Stomach	stomach
12	chr19:41671800-41678400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:41672000-41679000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr19:41672000-41680800	Weak transcription	Hela-S3	cervix
15	chr19:41673600-41678400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:41673600-41678400	Weak transcription	Colonic Mucosa	Colon
17	chr19:41673800-41677400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr19:41673800-41678200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:41673800-41678400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:41673800-41678400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:41673800-41678400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:41673800-41678400	Weak transcription	A549	lung
23	chr19:41673800-41678800	Weak transcription	Gastric	stomach
24	chr19:41674000-41675600	Weak transcription	Fetal Intestine Small	intestine
25	chr19:41674000-41676400	Weak transcription	HepG2	liver
26	chr19:41674000-41677200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:41674000-41678000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:41674200-41676400	Weak transcription	Fetal Intestine Large	intestine

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