Variant report

Variant	rs30476
Chromosome Location	chr19:39797885-39797886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39797447..39800605-chr19:39809865..39811961,3	K562	blood:
2	chr19:39617953..39620169-chr19:39796601..39798987,2	MCF-7	breast:
3	chr19:39786963..39789424-chr19:39795877..39798422,3	K562	blood:
4	chr19:39797498..39799055-chr19:39814063..39816846,2	MCF-7	breast:
5	chr19:39694353..39697175-chr19:39797763..39799707,2	K562	blood:
6	chr19:39766722..39768435-chr19:39797064..39798738,2	MCF-7	breast:
7	chr19:39792656..39794675-chr19:39795955..39798100,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268262	Chromatin interaction
ENSG00000179751	Chromatin interaction
ENSG00000182393	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10401141	1.00[EUR][1000 genomes]
rs10401371	1.00[EUR][1000 genomes]
rs10402464	1.00[EUR][1000 genomes]
rs10420516	1.00[EUR][1000 genomes]
rs251898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs251904	1.00[AMR][1000 genomes]
rs28787057	1.00[EUR][1000 genomes]
rs40469	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39788800-39802200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr19:39789000-39801000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr19:39789600-39803000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:39789800-39801600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr19:39790200-39802000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:39790400-39809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:39790600-39810000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:39791000-39798400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr19:39796400-39798600	Weak transcription	Lung	lung
10	chr19:39796600-39801200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr19:39797000-39798800	Weak transcription	Dnd41	blood
12	chr19:39797000-39799000	Weak transcription	K562	blood
13	chr19:39797200-39801000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:39797400-39798000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:39797400-39798200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr19:39797400-39798600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:39797400-39799000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:39797400-39799200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr19:39797400-39799200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr19:39797400-39799200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:39797400-39799200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr19:39797400-39799200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:39797400-39799200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr19:39797400-39799400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr19:39797600-39798000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:39797600-39798000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
27	chr19:39797600-39798000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
28	chr19:39797600-39798000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr19:39797600-39798200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:39797600-39798200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
31	chr19:39797600-39798400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr19:39797600-39798400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:39797600-39798400	Bivalent Enhancer	Fetal Lung	lung
34	chr19:39797600-39798600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:39797600-39798600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:39797600-39798600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:39797600-39798600	Enhancers	Adipose Nuclei	Adipose
38	chr19:39797600-39798800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr19:39797600-39798800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
40	chr19:39797600-39799000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:39797600-39801000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr19:39797800-39798000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:39797800-39798000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:39797800-39798000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:39797800-39798000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:39797800-39798000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:39797800-39798000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr19:39797800-39798000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr19:39797800-39798000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr19:39797800-39798000	Bivalent Enhancer	Psoas Muscle	Psoas

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