Variant report

Variant	rs62177328
Chromosome Location	chr2:180094626-180094627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12622222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363057	1.00[AFR][1000 genomes]
rs17454087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17454527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62175447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175448	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62175449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177277	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177291	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62177326	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177327	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62179066	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62179067	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62179068	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62179069	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv3061	chr2:180057194-180095718	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1798738	chr2:180084168-180100584	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
3	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:180083800-180102200	Weak transcription	HMEC	breast
5	chr2:180087200-180097600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:180087400-180094800	Weak transcription	Osteobl	bone
7	chr2:180087600-180095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:180088800-180098400	Weak transcription	Spleen	Spleen
9	chr2:180089600-180095000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:180089600-180115200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:180089800-180095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:180089800-180095000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:180089800-180100200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:180089800-180100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:180089800-180102000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:180090000-180098400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:180090000-180102000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:180090600-180102000	Weak transcription	Psoas Muscle	Psoas
19	chr2:180090600-180102400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:180091200-180102400	Weak transcription	Left Ventricle	heart
21	chr2:180091200-180104600	Weak transcription	Right Ventricle	heart
22	chr2:180091600-180098200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:180091600-180100400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:180091800-180100200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:180091800-180100600	Weak transcription	Brain Angular Gyrus	brain
26	chr2:180091800-180101800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:180091800-180102000	Weak transcription	Fetal Brain Male	brain
28	chr2:180091800-180102200	Weak transcription	Fetal Brain Female	brain
29	chr2:180091800-180102200	Weak transcription	Fetal Heart	heart
30	chr2:180091800-180102400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:180091800-180127200	Weak transcription	Fetal Lung	lung
32	chr2:180092000-180094800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:180092000-180097600	Weak transcription	A549	lung
34	chr2:180092000-180102800	Weak transcription	Fetal Intestine Large	intestine
35	chr2:180092200-180097800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:180092200-180098400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:180092200-180100200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:180092200-180100400	Weak transcription	Brain Germinal Matrix	brain
39	chr2:180092200-180101800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:180092200-180102400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:180092600-180095000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:180092600-180099400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:180092600-180099800	Weak transcription	Brain Substantia Nigra	brain
44	chr2:180092600-180100600	Weak transcription	Aorta	Aorta
45	chr2:180092800-180098200	Weak transcription	Lung	lung
46	chr2:180092800-180100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:180092800-180100600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:180092800-180102000	Weak transcription	Right Atrium	heart
49	chr2:180092800-180102000	Weak transcription	NHLF	lung
50	chr2:180092800-180104600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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