Variant report

Variant	rs184623
Chromosome Location	chr19:41703955-41703956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41698446..41700013-chr19:41702267..41703970,2	MCF-7	breast:
2	chr19:41703762..41708765-chr19:41768363..41772371,6	MCF-7	breast:
3	chr19:41700112..41702823-chr19:41703297..41705172,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105323	Chromatin interaction
ENSG00000167600	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1623906	0.83[AMR][1000 genomes]
rs338584	0.81[CHB][hapmap]
rs338595	1.00[ASN][1000 genomes]
rs338596	1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs338597	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[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	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
2	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41699600-41724400	Weak transcription	Right Atrium	heart
2	chr19:41700000-41722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:41700000-41724400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:41700200-41724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:41700600-41704000	Weak transcription	Colonic Mucosa	Colon
6	chr19:41700600-41707000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:41700600-41714600	Weak transcription	Spleen	Spleen
8	chr19:41700800-41704200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:41700800-41704600	Weak transcription	Lung	lung
10	chr19:41700800-41705200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:41700800-41711400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:41701200-41704800	Strong transcription	Fetal Intestine Large	intestine
13	chr19:41701200-41713800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:41701600-41713800	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr19:41701600-41714600	Strong transcription	Fetal Intestine Small	intestine
16	chr19:41701800-41704600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:41701800-41711400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:41701800-41711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:41701800-41714400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:41701800-41714800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:41702000-41713800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:41702000-41722400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:41702200-41714000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:41702400-41704600	Weak transcription	Esophagus	oesophagus
25	chr19:41702600-41704200	Weak transcription	A549	lung
26	chr19:41702600-41704400	Weak transcription	Gastric	stomach
27	chr19:41702600-41705400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:41702600-41706200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:41702600-41706200	Weak transcription	GM12878-XiMat	blood
30	chr19:41702600-41706800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:41702600-41711800	Weak transcription	NHEK	skin
32	chr19:41702600-41712000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:41702800-41704200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr19:41702800-41713600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:41702800-41713800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:41703000-41704400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr19:41703000-41704800	Enhancers	Stomach Mucosa	stomach
38	chr19:41703000-41714600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr19:41703200-41704200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:41703200-41706400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr19:41703600-41704600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:41703800-41704000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:41703800-41704000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:41703800-41705000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:41703800-41705200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr19:41703800-41705200	Strong transcription	NHLF	lung

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