Variant report

Variant	rs7260184
Chromosome Location	chr19:36240614-36240615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:
2	chr19:36239415..36241356-chr19:36242820..36244877,2	MCF-7	breast:
3	chr19:36239375..36241509-chr19:36425781..36428099,2	MCF-7	breast:
4	chr19:36239350..36241235-chr19:36263074..36266129,3	MCF-7	breast:
5	chr19:36239474..36241411-chr19:36265453..36267969,2	K562	blood:
6	chr19:36238866..36244880-chr19:36246037..36252437,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126243	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000004776	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10401156	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10402601	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10402837	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11549030	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459634	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2234371	0.82[AFR][1000 genomes]
rs2239947	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293686	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28656784	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871921	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34031911	0.82[AFR][1000 genomes]
rs3746277	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761087	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848662	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3848665	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62112162	0.87[EUR][1000 genomes]
rs8106959	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS 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	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv515536	chr19:36219525-36240960	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7260184	U2AF1L4	cis	Muscle Skeletal	GTEx
rs7260184	U2AF1L4	cis	lung	GTEx
rs7260184	U2AF1L4	cis	Esophagus Muscularis	GTEx
rs7260184	U2AF1L4	cis	Whole Blood	GTEx
rs7260184	U2AF1L4	Cis_1M	lymphoblastoid	RTeQTL
rs7260184	TMEM149	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36238600-36240800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:36239000-36240800	Active TSS	HSMM	muscle
3	chr19:36239200-36240800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:36239200-36240800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:36239200-36241000	Active TSS	HSMMtube	muscle
6	chr19:36239400-36240800	Active TSS	Placenta Amnion	Placenta Amnion
7	chr19:36239800-36241000	Enhancers	Fetal Heart	heart
8	chr19:36240000-36241000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:36240000-36241000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr19:36240000-36241400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr19:36240000-36241400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:36240000-36246200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:36240200-36240800	Weak transcription	Lung	lung
14	chr19:36240200-36241000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr19:36240200-36241000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:36240200-36241000	Enhancers	Primary B cells from peripheral blood	blood
17	chr19:36240200-36241000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:36240200-36241000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:36240200-36241000	Enhancers	Fetal Intestine Large	intestine
20	chr19:36240200-36241000	Enhancers	Fetal Stomach	stomach
21	chr19:36240200-36241000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr19:36240200-36241200	Enhancers	Pancreas	Pancrea
23	chr19:36240200-36241400	Enhancers	Liver	Liver
24	chr19:36240200-36241400	Enhancers	Esophagus	oesophagus
25	chr19:36240200-36241600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:36240200-36242000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr19:36240200-36242800	Weak transcription	Aorta	Aorta
28	chr19:36240200-36243400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr19:36240200-36243800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:36240200-36244600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:36240200-36246200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:36240400-36240800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:36240400-36240800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:36240400-36240800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:36240400-36240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:36240400-36240800	Enhancers	Brain Germinal Matrix	brain
37	chr19:36240400-36240800	Enhancers	Colon Smooth Muscle	Colon
38	chr19:36240400-36240800	Enhancers	Placenta	Placenta
39	chr19:36240400-36240800	Weak transcription	Right Atrium	heart
40	chr19:36240400-36240800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr19:36240400-36240800	Weak transcription	Small Intestine	intestine
42	chr19:36240400-36240800	Enhancers	Dnd41	blood
43	chr19:36240400-36241000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:36240400-36241000	Enhancers	Primary B cells from cord blood	blood
45	chr19:36240400-36241000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr19:36240400-36241000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:36240400-36241000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr19:36240400-36241000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr19:36240400-36241000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:36240400-36241000	Enhancers	Brain Hippocampus Middle	brain

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