Variant report

Variant	rs12611041
Chromosome Location	chr19:37695975-37695976
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37694164..37696878-chr19:37699838..37702470,3	K562	blood:

Variant related genes	Relation type
ENSG00000245680	Chromatin interaction
ENSG00000267360	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11667451	1.00[AFR][1000 genomes]
rs12459568	0.84[ASN][1000 genomes]
rs12462716	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12463321	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12971925	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4586564	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37675000-37701000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37679000-37700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:37680600-37700800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:37680800-37700800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:37680800-37700800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:37681000-37700800	Weak transcription	HSMMtube	muscle
7	chr19:37681000-37700800	Weak transcription	HUVEC	blood vessel
8	chr19:37681000-37701000	Weak transcription	Fetal Heart	heart
9	chr19:37681200-37696600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:37683400-37697400	Weak transcription	Fetal Brain Male	brain
11	chr19:37686800-37696600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:37686800-37699000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:37687000-37700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:37687400-37696000	Weak transcription	NHEK	skin
15	chr19:37687600-37698400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr19:37688600-37699000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:37688800-37698200	Strong transcription	Placenta	Placenta
18	chr19:37689000-37701000	Weak transcription	Stomach Mucosa	stomach
19	chr19:37689200-37698400	ZNF genes & repeats	Liver	Liver
20	chr19:37689400-37700800	Weak transcription	Psoas Muscle	Psoas
21	chr19:37689800-37699800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:37690200-37701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:37690200-37701000	Weak transcription	Fetal Kidney	kidney
24	chr19:37690400-37696000	Weak transcription	NHDF-Ad	bronchial
25	chr19:37690400-37697600	Weak transcription	Brain Angular Gyrus	brain
26	chr19:37690400-37698200	Strong transcription	Adipose Nuclei	Adipose
27	chr19:37690400-37700600	Weak transcription	Right Ventricle	heart
28	chr19:37690400-37700800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:37690600-37696000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:37690800-37696400	Weak transcription	Fetal Brain Female	brain
31	chr19:37691600-37699000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:37692000-37698400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:37692200-37698400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:37692400-37698200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:37692800-37696000	Strong transcription	Pancreatic Islets	Pancreatic Islet
36	chr19:37692800-37697800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
37	chr19:37692800-37698200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:37692800-37698400	Strong transcription	Fetal Intestine Large	intestine
39	chr19:37692800-37698600	ZNF genes & repeats	A549	lung
40	chr19:37693000-37696800	ZNF genes & repeats	Small Intestine	intestine
41	chr19:37693000-37697200	Strong transcription	Pancreas	Pancrea
42	chr19:37693000-37697600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:37693000-37698200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:37693000-37698200	Strong transcription	Fetal Intestine Small	intestine
45	chr19:37693000-37698200	Strong transcription	Left Ventricle	heart
46	chr19:37693000-37698200	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr19:37693000-37698400	Strong transcription	Fetal Stomach	stomach
48	chr19:37693200-37698000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr19:37693400-37698200	Strong transcription	Osteobl	bone
50	chr19:37693600-37696800	Strong transcription	Aorta	Aorta

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