Variant report

Variant	rs57275571
Chromosome Location	chr19:52078826-52078827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52078209..52080125-chr19:52092721..52094345,2	K562	blood:
2	chr19:52073199..52077094-chr19:52077666..52081725,3	K562	blood:
3	chr19:52006753..52009286-chr19:52077848..52080040,2	K562	blood:

Variant related genes	Relation type
ENSG00000268839	Chromatin interaction
ENSG00000105497	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs3752128	1.00[ASN][1000 genomes]
rs3752130	1.00[ASN][1000 genomes]
rs3752131	1.00[ASN][1000 genomes]
rs56937816	1.00[ASN][1000 genomes]
rs57219903	1.00[ASN][1000 genomes]
rs57867319	1.00[ASN][1000 genomes]
rs57897206	1.00[ASN][1000 genomes]
rs58124117	1.00[ASN][1000 genomes]
rs58362329	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58736474	1.00[ASN][1000 genomes]
rs58737585	1.00[ASN][1000 genomes]
rs58839528	1.00[ASN][1000 genomes]
rs59361053	1.00[ASN][1000 genomes]
rs59382174	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59518378	1.00[ASN][1000 genomes]
rs60143674	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60314341	1.00[ASN][1000 genomes]
rs60351338	1.00[ASN][1000 genomes]
rs61117584	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61235925	1.00[ASN][1000 genomes]
rs61350519	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61489792	1.00[ASN][1000 genomes]
rs61511733	1.00[ASN][1000 genomes]
rs61553708	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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
8	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52075400-52084600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:52075400-52087400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:52075400-52090200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:52075600-52084400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:52075600-52084400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:52075600-52084600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:52075600-52084600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr19:52075600-52084600	Weak transcription	Colonic Mucosa	Colon
9	chr19:52075600-52084800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:52075600-52084800	Weak transcription	Fetal Kidney	kidney
11	chr19:52075600-52089200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:52075800-52079600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:52075800-52079600	Weak transcription	Primary B cells from cord blood	blood
14	chr19:52075800-52079800	Weak transcription	Gastric	stomach
15	chr19:52075800-52081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:52075800-52083600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr19:52075800-52084200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:52075800-52084200	Weak transcription	HSMMtube	muscle
19	chr19:52075800-52085000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:52075800-52090000	Weak transcription	Stomach Mucosa	stomach
21	chr19:52075800-52096800	Weak transcription	HepG2	liver
22	chr19:52076000-52084800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:52076200-52079800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:52076200-52080600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:52076200-52080600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr19:52076200-52084600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr19:52076200-52084800	Weak transcription	Fetal Heart	heart
28	chr19:52076200-52088200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr19:52076400-52080000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:52076400-52080200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr19:52076400-52080200	Strong transcription	Fetal Muscle Leg	muscle
32	chr19:52076400-52080200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr19:52076400-52080800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr19:52076400-52086800	Strong transcription	Primary T cells from cord blood	blood
35	chr19:52076400-52087000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr19:52076400-52088800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:52076600-52079000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr19:52076600-52079000	Weak transcription	Fetal Brain Male	brain
39	chr19:52076600-52079800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:52076600-52080200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr19:52076600-52080400	Strong transcription	Brain Substantia Nigra	brain
42	chr19:52076600-52080600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:52076600-52082200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:52076600-52083400	Strong transcription	Fetal Stomach	stomach
45	chr19:52076800-52079400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:52076800-52079800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:52076800-52079800	Strong transcription	Liver	Liver
48	chr19:52076800-52083400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr19:52076800-52084600	Weak transcription	Esophagus	oesophagus
50	chr19:52076800-52087400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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