Variant report

Variant	rs34701716
Chromosome Location	chr1:223113809-223113810
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10495202	0.82[AMR][1000 genomes]
rs1132369	0.82[AMR][1000 genomes]
rs1132371	0.82[AMR][1000 genomes]
rs11588378	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12734196	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17475753	0.82[AMR][1000 genomes]
rs17475774	0.82[AMR][1000 genomes]
rs17477752	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17534704	0.82[AMR][1000 genomes]
rs17534774	0.82[AMR][1000 genomes]
rs17535004	0.82[AMR][1000 genomes]
rs17535032	0.82[AMR][1000 genomes]
rs17535137	0.82[AMR][1000 genomes]
rs17536056	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17536209	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17536299	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17536396	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17536522	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34080450	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34151467	0.82[AMR][1000 genomes]
rs34194482	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34225287	0.82[AMR][1000 genomes]
rs34232799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34299243	0.82[AMR][1000 genomes]
rs34355153	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34503525	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34643369	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34690779	0.82[AMR][1000 genomes]
rs34713681	0.82[AMR][1000 genomes]
rs34755094	0.82[AMR][1000 genomes]
rs34761499	0.82[AMR][1000 genomes]
rs34774807	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34791822	0.82[AMR][1000 genomes]
rs34799664	1.00[AFR][1000 genomes]
rs34804073	0.82[AMR][1000 genomes]
rs34893395	0.82[AMR][1000 genomes]
rs34962524	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35095009	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35131473	0.82[AMR][1000 genomes]
rs35217299	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35270996	0.82[AMR][1000 genomes]
rs35283922	0.82[AMR][1000 genomes]
rs35319605	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35355763	0.84[ASN][1000 genomes]
rs35399857	0.82[AMR][1000 genomes]
rs35506390	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35538644	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35551242	0.82[EUR][1000 genomes]
rs35578837	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35597626	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35597790	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35689138	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35773347	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35898924	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35912520	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35947021	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36032255	0.86[AMR][1000 genomes]
rs36090356	0.82[AMR][1000 genomes]
rs36113407	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4298738	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61838119	0.82[AMR][1000 genomes]
rs61839587	0.82[AMR][1000 genomes]
rs61839588	0.82[AMR][1000 genomes]
rs61839600	0.82[AMR][1000 genomes]
rs61839601	0.82[AMR][1000 genomes]
rs61839602	0.82[AMR][1000 genomes]
rs61840263	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61840271	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61840273	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71644708	0.82[AMR][1000 genomes]
rs71644714	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71644716	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71644718	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71644720	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1828950	chr1:223111708-223132433	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223092400-223116200	Weak transcription	Primary B cells from cord blood	blood
2	chr1:223100200-223116200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:223102000-223116200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:223102200-223116000	Weak transcription	Placenta	Placenta
5	chr1:223102200-223116200	Weak transcription	Fetal Stomach	stomach
6	chr1:223102200-223116200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:223102200-223119400	Weak transcription	NHLF	lung
8	chr1:223102200-223128000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:223102200-223130800	Weak transcription	Fetal Brain Male	brain
10	chr1:223102400-223121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:223102600-223117800	Weak transcription	Psoas Muscle	Psoas
12	chr1:223102600-223121200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:223102800-223116200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:223102800-223124400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:223103200-223116200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:223103800-223116200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:223104400-223116200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:223105000-223116400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:223105000-223128800	Weak transcription	Ovary	ovary
20	chr1:223105200-223118400	Weak transcription	HSMMtube	muscle
21	chr1:223105400-223115000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:223105400-223116400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:223105400-223119000	Weak transcription	Right Atrium	heart
24	chr1:223106200-223116200	Weak transcription	Stomach Mucosa	stomach
25	chr1:223108000-223120600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:223109200-223116200	Weak transcription	Right Ventricle	heart
27	chr1:223109600-223114400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:223109600-223116200	Weak transcription	Liver	Liver
29	chr1:223109600-223116200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:223109800-223114200	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:223111400-223116200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:223111400-223116200	Weak transcription	Brain Anterior Caudate	brain
33	chr1:223111600-223122800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:223111800-223116200	Weak transcription	Lung	lung
35	chr1:223111800-223116400	Weak transcription	Fetal Intestine Large	intestine
36	chr1:223112000-223116200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:223112600-223114000	Weak transcription	Fetal Lung	lung
38	chr1:223112600-223114200	Weak transcription	Fetal Kidney	kidney
39	chr1:223112600-223126200	Weak transcription	Osteobl	bone
40	chr1:223113400-223116200	Weak transcription	Adipose Nuclei	Adipose
41	chr1:223113400-223119600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:223113600-223114200	Enhancers	Left Ventricle	heart
43	chr1:223113600-223116200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:223113600-223116200	Weak transcription	Pancreas	Pancrea
45	chr1:223113800-223114600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:223113800-223115200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:223113800-223116000	Weak transcription	Primary T cells from cord blood	blood
48	chr1:223113800-223116200	Weak transcription	Fetal Muscle Leg	muscle

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