Variant report

Variant	rs73557743
Chromosome Location	chr19:40822627-40822628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40794373..40797365-chr19:40820678..40822952,2	K562	blood:
2	chr19:40821045..40823190-chr19:40827366..40829616,2	MCF-7	breast:
3	chr19:40817646..40819198-chr19:40820756..40822692,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLD3-3	chr19:40819394-40825438	NONHSAT066371

Variant related genes	Relation type
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56743160	1.00[AMR][1000 genomes]
rs58341807	1.00[AMR][1000 genomes]
rs58675277	1.00[AMR][1000 genomes]
rs61140926	1.00[AMR][1000 genomes]
rs61208274	1.00[AMR][1000 genomes]
rs7249252	1.00[AMR][1000 genomes]
rs7256297	1.00[AMR][1000 genomes]
rs73549813	1.00[AMR][1000 genomes]
rs73553624	1.00[AMR][1000 genomes]
rs73553657	1.00[AMR][1000 genomes]
rs73555546	1.00[AMR][1000 genomes]
rs73555594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73557755	1.00[AMR][1000 genomes]
rs73559610	1.00[AMR][1000 genomes]
rs73559649	1.00[AMR][1000 genomes]
rs8107448	1.00[AMR][1000 genomes]
rs8109544	1.00[AMR][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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
5	esv3386713	chr19:40794161-40828617	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40792000-40826200	Weak transcription	Hela-S3	cervix
2	chr19:40800400-40826400	Weak transcription	Brain Angular Gyrus	brain
3	chr19:40802800-40828000	Weak transcription	NH-A	brain
4	chr19:40810600-40825800	Weak transcription	Adipose Nuclei	Adipose
5	chr19:40810600-40829800	Weak transcription	NHDF-Ad	bronchial
6	chr19:40810800-40826200	Weak transcription	HMEC	breast
7	chr19:40811200-40826000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:40811400-40826600	Weak transcription	NHEK	skin
9	chr19:40811600-40826600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:40811800-40826400	Weak transcription	Brain Substantia Nigra	brain
11	chr19:40811800-40826600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:40811800-40826600	Weak transcription	Fetal Lung	lung
13	chr19:40811800-40831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:40814600-40824400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:40815400-40832800	Weak transcription	Fetal Brain Male	brain
16	chr19:40815600-40826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:40815800-40824400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:40816400-40824200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:40817200-40825800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:40817400-40827400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:40817600-40827200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr19:40818800-40824200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:40819000-40824400	Weak transcription	GM12878-XiMat	blood
24	chr19:40819200-40825800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:40819200-40826800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:40819200-40834000	Weak transcription	Fetal Kidney	kidney
27	chr19:40819400-40824400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:40819400-40828200	Weak transcription	Osteobl	bone
29	chr19:40819800-40826600	Weak transcription	Primary B cells from cord blood	blood
30	chr19:40819800-40826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:40820000-40824000	Weak transcription	NHLF	lung
32	chr19:40820000-40824400	Weak transcription	Fetal Thymus	thymus
33	chr19:40820000-40827400	Weak transcription	HepG2	liver
34	chr19:40820200-40823400	Weak transcription	Fetal Brain Female	brain
35	chr19:40820200-40826400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr19:40820400-40826000	Weak transcription	Gastric	stomach
37	chr19:40820600-40826600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:40820600-40827400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:40820800-40825800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:40820800-40825800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:40820800-40825800	Weak transcription	Esophagus	oesophagus
42	chr19:40820800-40825800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr19:40820800-40826000	Weak transcription	Fetal Intestine Large	intestine
44	chr19:40820800-40826600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:40820800-40848400	Strong transcription	Dnd41	blood
46	chr19:40821000-40825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:40821000-40825800	Weak transcription	HSMM	muscle
48	chr19:40821000-40826000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:40821200-40826000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr19:40821200-40831800	Weak transcription	K562	blood

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