Variant report

Variant	rs7583814
Chromosome Location	chr2:127863029-127863030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114783.1.1-4	chr2:127862718-127863044	l_1944_chr2:127862717-127879890_lung

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10198772	0.84[ASN][1000 genomes]
rs10204965	0.87[ASN][1000 genomes]
rs11674215	0.84[ASN][1000 genomes]
rs11688714	0.84[ASN][1000 genomes]
rs11688763	0.84[ASN][1000 genomes]
rs11695202	0.84[ASN][1000 genomes]
rs12989701	0.92[EUR][1000 genomes]
rs12994284	0.97[EUR][1000 genomes]
rs12994718	0.97[EUR][1000 genomes]
rs13004848	0.92[EUR][1000 genomes]
rs13009551	0.92[EUR][1000 genomes]
rs13029812	0.95[EUR][1000 genomes]
rs13416395	0.87[ASN][1000 genomes]
rs13417002	0.87[ASN][1000 genomes]
rs13417187	0.87[ASN][1000 genomes]
rs13419729	0.87[ASN][1000 genomes]
rs13427080	0.87[ASN][1000 genomes]
rs28434131	0.97[EUR][1000 genomes]
rs34608578	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34745987	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34854727	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35832505	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35860453	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36085158	0.98[EUR][1000 genomes]
rs3845673	0.87[ASN][1000 genomes]
rs4663096	0.92[EUR][1000 genomes]
rs4663097	0.92[EUR][1000 genomes]
rs56772251	0.87[ASN][1000 genomes]
rs56827597	0.87[ASN][1000 genomes]
rs56853185	0.87[ASN][1000 genomes]
rs6710467	0.88[EUR][1000 genomes]
rs6720234	0.97[EUR][1000 genomes]
rs6751498	0.87[ASN][1000 genomes]
rs71414738	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72959054	0.87[ASN][1000 genomes]
rs72959055	0.87[ASN][1000 genomes]
rs72959057	0.84[ASN][1000 genomes]
rs72959066	0.84[ASN][1000 genomes]
rs72959067	0.84[ASN][1000 genomes]
rs7557280	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7575579	0.84[ASN][1000 genomes]
rs7584040	1.00[ASN][1000 genomes]
rs7600660	0.87[ASN][1000 genomes]
rs873270	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9653202	0.84[ASN][1000 genomes]
rs9653203	0.84[ASN][1000 genomes]
rs9653206	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv1825024	chr2:127798138-127864285	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv459241	chr2:127800981-127868435	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583033	chr2:127800981-127868435	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875011	chr2:127800981-127868435	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv875012	chr2:127800981-127895573	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1005149	chr2:127841930-127880106	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7583814	BIN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127858000-127863600	Enhancers	Spleen	Spleen
2	chr2:127858400-127863200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:127858800-127863600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:127860800-127863200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:127861000-127863200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:127861000-127863200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:127861200-127863200	Enhancers	Stomach Mucosa	stomach
8	chr2:127861400-127863200	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:127861400-127863400	Flanking Active TSS	Colonic Mucosa	Colon
10	chr2:127861800-127863200	Enhancers	Right Ventricle	heart
11	chr2:127861800-127864400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr2:127862000-127865600	Active TSS	Psoas Muscle	Psoas
13	chr2:127862200-127863200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:127862200-127863400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:127862200-127864200	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr2:127862400-127863200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:127862400-127863200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:127862400-127863200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:127862400-127863200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:127862400-127863200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:127862400-127863200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:127862400-127863200	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr2:127862400-127863200	Flanking Active TSS	Osteobl	bone
24	chr2:127862400-127863600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr2:127862400-127863800	Enhancers	Fetal Brain Male	brain
26	chr2:127862600-127863200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr2:127862600-127863200	Flanking Active TSS	Fetal Lung	lung
28	chr2:127862600-127863400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:127862600-127863400	Flanking Active TSS	Pancreas	Pancrea
30	chr2:127862600-127863600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr2:127862600-127863600	Enhancers	Fetal Heart	heart
32	chr2:127862600-127863600	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr2:127862600-127863800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:127862600-127863800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr2:127862600-127864600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
36	chr2:127862600-127865400	Active TSS	HSMMtube	muscle
37	chr2:127862600-127865600	Active TSS	Rectal Smooth Muscle	rectum
38	chr2:127862800-127863200	Flanking Active TSS	Fetal Stomach	stomach
39	chr2:127862800-127863200	Flanking Active TSS	Ovary	ovary
40	chr2:127862800-127863400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:127862800-127863400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr2:127862800-127863400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:127862800-127863600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
44	chr2:127862800-127863600	Flanking Active TSS	HUVEC	blood vessel
45	chr2:127862800-127863800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:127862800-127863800	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr2:127862800-127863800	Bivalent/Poised TSS	Placenta	Placenta
48	chr2:127862800-127864400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:127862800-127864400	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr2:127862800-127865400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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