Variant report

Variant	rs73044057
Chromosome Location	chr19:35667213-35667214
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35665363..35668225-chr19:35738724..35741368,2	K562	blood:
2	chr19:35666862..35669002-chr19:35676994..35679868,2	K562	blood:

Variant related genes	Relation type
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2073948	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55957448	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56050577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56058408	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56370249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59299730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59325149	0.91[ASN][1000 genomes]
rs73044014	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73044015	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73044017	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73044024	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73044028	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73044071	0.91[ASN][1000 genomes]
rs73044076	0.91[ASN][1000 genomes]
rs73044081	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73044083	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2757694	chr19:35653642-35673333	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758757	chr19:35653642-35673333	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv2470	chr19:35655281-35702565	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
8	nsv516540	chr19:35660450-35685536	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv9709	chr19:35660761-35667329	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv828533	chr19:35660979-35667253	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3318760	chr19:35661512-35667610	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3318761	chr19:35661512-35667610	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv817831	chr19:35661787-35673243	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv579368	chr19:35661787-35680002	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv579377	chr19:35662257-35673243	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv2762033	chr19:35666047-35667511	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
3	chr19:35660800-35673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:35661800-35668600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:35661800-35670000	Weak transcription	Thymus	Thymus
6	chr19:35661800-35673400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:35664000-35668200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr19:35664000-35668200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:35664000-35669800	Weak transcription	Primary T cells from cord blood	blood
10	chr19:35664000-35669800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr19:35664000-35670000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:35664200-35669600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr19:35664200-35670400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:35664800-35668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:35664800-35669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:35664800-35670200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:35665000-35670200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr19:35665200-35670400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:35666000-35667400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:35666000-35667600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:35666000-35667600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr19:35666000-35667600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr19:35666000-35668400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:35666200-35667400	Enhancers	K562	blood
25	chr19:35666200-35667600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:35666200-35668000	Enhancers	Placenta	Placenta
27	chr19:35666600-35667400	Enhancers	Fetal Kidney	kidney
28	chr19:35666600-35667600	Enhancers	NHDF-Ad	bronchial
29	chr19:35666600-35667600	Enhancers	NHEK	skin
30	chr19:35666800-35667400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:35666800-35667400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr19:35666800-35667400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:35666800-35667400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:35666800-35667400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:35666800-35667400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:35666800-35667400	Enhancers	Fetal Intestine Large	intestine
37	chr19:35666800-35667400	Enhancers	Lung	lung
38	chr19:35666800-35667400	Enhancers	NHLF	lung
39	chr19:35666800-35667400	Enhancers	Osteobl	bone
40	chr19:35666800-35667600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:35666800-35667600	Enhancers	Adipose Nuclei	Adipose
42	chr19:35666800-35667600	Enhancers	HMEC	breast
43	chr19:35667000-35667400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:35667000-35667400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:35667000-35667400	Enhancers	Fetal Intestine Small	intestine
46	chr19:35667000-35667400	Enhancers	Stomach Mucosa	stomach
47	chr19:35667000-35667400	Enhancers	HSMM	muscle
48	chr19:35667000-35667400	Enhancers	HSMMtube	muscle
49	chr19:35667200-35667400	Enhancers	Primary B cells from peripheral blood	blood
50	chr19:35667200-35667400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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