Variant report

Variant	rs730294
Chromosome Location	chr2:127863338-127863339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10166461	0.87[AFR][1000 genomes]
rs10182292	0.88[AFR][1000 genomes]
rs10189896	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929008	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11678252	0.82[AMR][1000 genomes]
rs11695710	0.83[AMR][1000 genomes]
rs13388170	0.83[AMR][1000 genomes]
rs13400939	0.87[AFR][1000 genomes]
rs13403184	0.82[AMR][1000 genomes]
rs13416037	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2404527	0.83[AMR][1000 genomes]
rs6743470	0.89[AFR][1000 genomes]
rs6759813	0.81[EUR][1000 genomes]
rs746979	0.83[AMR][1000 genomes]
rs749006	0.87[AFR][1000 genomes]
rs7566991	0.88[AFR][1000 genomes]
rs7575209	0.84[AFR][1000 genomes]
rs7594230	0.88[AFR][1000 genomes]
rs7601252	0.81[EUR][1000 genomes]
rs7601287	0.83[AFR][1000 genomes]
rs7602810	0.81[EUR][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
rs730294	BIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127858000-127863600	Enhancers	Spleen	Spleen
2	chr2:127858800-127863600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:127861400-127863400	Flanking Active TSS	Colonic Mucosa	Colon
4	chr2:127861800-127864400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr2:127862000-127865600	Active TSS	Psoas Muscle	Psoas
6	chr2:127862200-127863400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:127862200-127864200	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr2:127862400-127863600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr2:127862400-127863800	Enhancers	Fetal Brain Male	brain
10	chr2:127862600-127863400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:127862600-127863400	Flanking Active TSS	Pancreas	Pancrea
12	chr2:127862600-127863600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr2:127862600-127863600	Enhancers	Fetal Heart	heart
14	chr2:127862600-127863600	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr2:127862600-127863800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:127862600-127863800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr2:127862600-127864600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
18	chr2:127862600-127865400	Active TSS	HSMMtube	muscle
19	chr2:127862600-127865600	Active TSS	Rectal Smooth Muscle	rectum
20	chr2:127862800-127863400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:127862800-127863400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr2:127862800-127863400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:127862800-127863600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
24	chr2:127862800-127863600	Flanking Active TSS	HUVEC	blood vessel
25	chr2:127862800-127863800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:127862800-127863800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:127862800-127863800	Bivalent/Poised TSS	Placenta	Placenta
28	chr2:127862800-127864400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:127862800-127864400	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr2:127862800-127865400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:127862800-127865400	Active TSS	Brain Angular Gyrus	brain
32	chr2:127862800-127865400	Active TSS	Brain Substantia Nigra	brain
33	chr2:127862800-127865400	Active TSS	Fetal Kidney	kidney
34	chr2:127862800-127865600	Active TSS	Brain Cingulate Gyrus	brain
35	chr2:127862800-127865600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:127862800-127865800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr2:127863000-127863400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:127863000-127863400	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:127863000-127863400	Flanking Active TSS	Liver	Liver
40	chr2:127863000-127863400	Active TSS	Esophagus	oesophagus
41	chr2:127863000-127863400	Flanking Active TSS	NHLF	lung
42	chr2:127863000-127863600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:127863000-127863800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:127863000-127863800	Flanking Active TSS	A549	lung
45	chr2:127863000-127864200	Active TSS	Fetal Intestine Large	intestine
46	chr2:127863000-127864400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr2:127863000-127864600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:127863000-127864600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr2:127863000-127865200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:127863000-127865200	Active TSS	HSMM	muscle

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