Variant report

Variant	rs1738647
Chromosome Location	chr1:120532209-120532210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM30-1	chr1:120531875-120534179	ENSG00000247433

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10127888	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923931	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493691	0.80[AFR][1000 genomes]
rs1493694	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027447	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2453040	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453058	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493389	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2493390	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493391	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493392	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493394	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493413	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2493415	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2641317	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641348	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2641352	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2793829	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793831	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934381	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934387	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3897478	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406767	0.82[ASN][1000 genomes]
rs56302051	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668119	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6685892	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699779	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72697237	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515431	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534585	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534586	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835575	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835576	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];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	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120468600-120532800	Weak transcription	Stomach Mucosa	stomach
2	chr1:120491200-120538800	Weak transcription	Fetal Brain Male	brain
3	chr1:120509000-120533000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:120509800-120557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:120510200-120532800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:120510200-120538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:120510200-120552200	Weak transcription	HUVEC	blood vessel
8	chr1:120510800-120532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:120510800-120533000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:120510800-120557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:120511600-120557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:120512400-120543600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:120512600-120532800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:120514400-120543400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:120514400-120549400	Weak transcription	Gastric	stomach
16	chr1:120515000-120532800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:120518800-120533000	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:120521200-120549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:120523800-120546800	Weak transcription	Esophagus	oesophagus
20	chr1:120524400-120543600	Weak transcription	Spleen	Spleen
21	chr1:120525600-120532800	Weak transcription	Fetal Stomach	stomach
22	chr1:120525600-120557800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:120526200-120532800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:120527600-120533000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:120527600-120550000	Weak transcription	Lung	lung
26	chr1:120527800-120532800	Weak transcription	Ovary	ovary
27	chr1:120527800-120542400	Weak transcription	Brain Germinal Matrix	brain
28	chr1:120527800-120558200	Weak transcription	Brain Angular Gyrus	brain
29	chr1:120528000-120532800	Weak transcription	Fetal Kidney	kidney
30	chr1:120529400-120532800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:120529400-120532800	Weak transcription	Fetal Heart	heart
32	chr1:120529600-120532800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:120529600-120532800	Weak transcription	Fetal Lung	lung
34	chr1:120529600-120543600	Weak transcription	Fetal Intestine Large	intestine
35	chr1:120529800-120532800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:120529800-120532800	Weak transcription	Liver	Liver
37	chr1:120529800-120532800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:120529800-120539400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:120529800-120549400	Weak transcription	Pancreas	Pancrea
40	chr1:120529800-120557800	Weak transcription	Left Ventricle	heart
41	chr1:120530000-120532800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:120530000-120532800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:120530000-120532800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:120530000-120533000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:120530000-120541000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:120530000-120543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:120530200-120532800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr1:120530400-120532800	Weak transcription	Adipose Nuclei	Adipose
49	chr1:120530400-120533200	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:120530400-120535200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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