Variant report

Variant	rs7246461
Chromosome Location	chr19:38196581-38196582
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11083432	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12979640	0.89[AFR][1000 genomes]
rs56151076	0.85[AFR][1000 genomes]
rs56317671	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62108337	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs958305	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7246461	ZNF571	cis	multi-tissue	Pritchard

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38183200-38208800	Weak transcription	Fetal Heart	heart
2	chr19:38184200-38201200	Weak transcription	Colonic Mucosa	Colon
3	chr19:38184400-38208800	Weak transcription	HepG2	liver
4	chr19:38187000-38207800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:38187000-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:38187400-38199000	ZNF genes & repeats	A549	lung
7	chr19:38187400-38205800	Strong transcription	Dnd41	blood
8	chr19:38187400-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:38188000-38198200	Weak transcription	Pancreas	Pancrea
10	chr19:38188200-38197800	Weak transcription	Right Ventricle	heart
11	chr19:38188200-38209200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:38188400-38202000	Weak transcription	Placenta	Placenta
13	chr19:38189400-38209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr19:38190000-38206600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:38190400-38196800	Weak transcription	Gastric	stomach
16	chr19:38190400-38197200	Weak transcription	Small Intestine	intestine
17	chr19:38190600-38196800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:38190600-38197000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:38190600-38197200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:38190600-38197200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:38190600-38197200	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:38190600-38197200	Weak transcription	Fetal Muscle Leg	muscle
23	chr19:38190600-38197400	Weak transcription	Thymus	Thymus
24	chr19:38190600-38198000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:38190600-38198400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:38190600-38198400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:38190600-38209000	Weak transcription	Brain Substantia Nigra	brain
28	chr19:38190600-38209200	Weak transcription	HSMMtube	muscle
29	chr19:38190800-38197200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:38190800-38197200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:38190800-38197200	Weak transcription	Fetal Intestine Large	intestine
32	chr19:38190800-38197200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:38190800-38198200	Weak transcription	Brain Angular Gyrus	brain
34	chr19:38190800-38198200	Weak transcription	Osteobl	bone
35	chr19:38190800-38198600	Weak transcription	HSMM	muscle
36	chr19:38190800-38202200	Weak transcription	NH-A	brain
37	chr19:38190800-38209000	Weak transcription	Stomach Mucosa	stomach
38	chr19:38190800-38209200	Weak transcription	Fetal Thymus	thymus
39	chr19:38190800-38209200	Weak transcription	Psoas Muscle	Psoas
40	chr19:38191000-38196600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr19:38191000-38197600	Weak transcription	Brain Anterior Caudate	brain
42	chr19:38191000-38197800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr19:38191000-38197800	Weak transcription	Fetal Brain Male	brain
44	chr19:38191000-38198000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:38191200-38196800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:38191200-38197200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:38191200-38198400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:38191200-38209200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr19:38191200-38209200	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:38191600-38196800	Weak transcription	Fetal Muscle Trunk	muscle

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