Variant report

Variant	rs62177326
Chromosome Location	chr2:180090704-180090705
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];0.91[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];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17454199	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17454527	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62175447	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175448	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62175449	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175450	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177277	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177280	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177281	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177283	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177285	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177287	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177289	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62177327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177328	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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177332	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177335	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177336	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177337	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177338	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177339	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62179066	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62179067	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62179068	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62179069	1.00[AFR][1000 genomes];0.82[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	esv3341806	chr2:180070495-180093344	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:59 , 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	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:180083800-180091000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:180083800-180092000	Weak transcription	Aorta	Aorta
7	chr2:180083800-180102200	Weak transcription	HMEC	breast
8	chr2:180084000-180091000	Weak transcription	Small Intestine	intestine
9	chr2:180084200-180091000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:180085200-180091200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:180085400-180091200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:180087200-180097600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:180087400-180094800	Weak transcription	Osteobl	bone
14	chr2:180087600-180091000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:180087600-180095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:180088400-180093000	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:180088600-180092200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:180088800-180090800	Enhancers	Brain Hippocampus Middle	brain
19	chr2:180088800-180091200	Enhancers	Colon Smooth Muscle	Colon
20	chr2:180088800-180098400	Weak transcription	Spleen	Spleen
21	chr2:180089000-180091000	Enhancers	Brain Substantia Nigra	brain
22	chr2:180089000-180091800	Enhancers	Brain Angular Gyrus	brain
23	chr2:180089000-180093000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:180089000-180093000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:180089000-180093000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:180089000-180093400	Enhancers	Brain Anterior Caudate	brain
27	chr2:180089200-180091200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:180089200-180092400	Weak transcription	Ovary	ovary
29	chr2:180089400-180091200	Enhancers	Right Ventricle	heart
30	chr2:180089600-180091000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:180089600-180091200	Weak transcription	Fetal Heart	heart
32	chr2:180089600-180091200	Enhancers	Left Ventricle	heart
33	chr2:180089600-180092000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:180089600-180095000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:180089600-180115200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:180089800-180090800	Strong transcription	HepG2	liver
37	chr2:180089800-180091600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:180089800-180091600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:180089800-180095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:180089800-180095000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:180089800-180100200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:180089800-180100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:180089800-180102000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:180090000-180091600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:180090000-180092600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:180090000-180093800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:180090000-180098400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:180090000-180102000	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:180090200-180091000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr2:180090200-180092200	Enhancers	Brain Germinal Matrix	brain

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