Variant report

Variant	rs73554679
Chromosome Location	chr19:44044694-44044695
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44038066..44039609-chr19:44044499..44046745,2	K562	blood:
2	chr19:44043152..44044968-chr19:44172029..44173702,2	K562	blood:
3	chr19:44036636..44039609-chr19:44043480..44045999,2	K562	blood:

Variant related genes	Relation type
ENSG00000011422	Chromatin interaction
ENSG00000176472	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs168310	1.00[ASN][1000 genomes]
rs2854497	1.00[ASN][1000 genomes]
rs3213293	0.86[AFR][1000 genomes]
rs3213316	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3213321	1.00[ASN][1000 genomes]
rs3213322	1.00[ASN][1000 genomes]
rs3213348	1.00[ASN][1000 genomes]
rs34439296	1.00[ASN][1000 genomes]
rs34471331	1.00[ASN][1000 genomes]
rs346049	1.00[ASN][1000 genomes]
rs399300	1.00[ASN][1000 genomes]
rs4251895	1.00[ASN][1000 genomes]
rs4251915	1.00[ASN][1000 genomes]
rs56015523	1.00[ASN][1000 genomes]
rs56204051	1.00[ASN][1000 genomes]
rs57817750	1.00[ASN][1000 genomes]
rs60175550	1.00[ASN][1000 genomes]
rs60273962	1.00[ASN][1000 genomes]
rs60889018	1.00[ASN][1000 genomes]
rs62113720	1.00[ASN][1000 genomes]
rs62113722	1.00[ASN][1000 genomes]
rs7257640	1.00[ASN][1000 genomes]
rs73554667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73554696	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73556510	0.86[AFR][1000 genomes]
rs73556512	0.86[AFR][1000 genomes]
rs73556542	0.86[AFR][1000 genomes]
rs73556565	1.00[ASN][1000 genomes]
rs73556581	1.00[ASN][1000 genomes]
rs8104645	1.00[ASN][1000 genomes]
rs8110767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv912107	chr19:44030998-44055726	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44038000-44046800	Weak transcription	Small Intestine	intestine
2	chr19:44038600-44054000	Weak transcription	Psoas Muscle	Psoas
3	chr19:44038800-44046800	Weak transcription	Esophagus	oesophagus
4	chr19:44038800-44055800	Weak transcription	Stomach Mucosa	stomach
5	chr19:44039000-44047000	Weak transcription	HUVEC	blood vessel
6	chr19:44039000-44049800	Strong transcription	Thymus	Thymus
7	chr19:44039200-44078600	Weak transcription	Hela-S3	cervix
8	chr19:44039600-44046600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:44040000-44046800	Weak transcription	Right Ventricle	heart
10	chr19:44040200-44046400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:44040200-44047000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:44040200-44052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:44040200-44052200	Strong transcription	Fetal Muscle Leg	muscle
14	chr19:44040600-44050000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:44040600-44052000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:44040800-44049600	Strong transcription	Osteobl	bone
17	chr19:44040800-44051800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:44040800-44060800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:44041200-44049800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:44041400-44050200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:44041400-44050200	Strong transcription	Primary T cells from cord blood	blood
22	chr19:44041400-44050600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:44041600-44049400	Strong transcription	Fetal Thymus	thymus
24	chr19:44041600-44050000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:44041600-44051200	Strong transcription	Spleen	Spleen
26	chr19:44041600-44051400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr19:44041600-44051600	Strong transcription	Fetal Intestine Large	intestine
28	chr19:44041600-44052200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:44041800-44049200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:44041800-44050400	Strong transcription	Ovary	ovary
31	chr19:44041800-44065200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:44042000-44045200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:44042000-44051600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:44042000-44051600	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:44042200-44050400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:44042200-44050400	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr19:44042400-44046600	Strong transcription	Liver	Liver
38	chr19:44042400-44049800	Strong transcription	Left Ventricle	heart
39	chr19:44042400-44050000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:44042400-44050200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr19:44042400-44050200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:44042400-44050200	Strong transcription	HSMM	muscle
43	chr19:44042400-44050400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr19:44042400-44051200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:44042400-44052000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr19:44042400-44058000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr19:44042600-44045200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:44042600-44045400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:44042600-44048200	Strong transcription	NH-A	brain
50	chr19:44042600-44048400	Strong transcription	HMEC	breast

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