Variant report

Variant	rs13013169
Chromosome Location	chr2:100814087-100814088
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10194635	0.80[ASN][1000 genomes]
rs10496345	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10496346	0.80[EUR][1000 genomes]
rs10865035	0.83[ASN][1000 genomes]
rs11123817	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123818	0.80[EUR][1000 genomes]
rs11123823	1.00[YRI][hapmap]
rs1122231	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1160542	0.80[ASN][1000 genomes]
rs1160543	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1160544	0.80[ASN][1000 genomes]
rs1160545	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11678979	0.90[ASN][1000 genomes]
rs11684761	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11685491	0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs11686372	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11687241	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11689199	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11689201	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11690335	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691409	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691869	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11693324	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11694723	1.00[YRI][hapmap]
rs11695383	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11695996	0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs12053126	0.80[EUR][1000 genomes]
rs12614880	0.81[EUR][1000 genomes]
rs12615145	0.80[EUR][1000 genomes]
rs12619178	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712073	0.87[ASN][1000 genomes]
rs12987662	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12990462	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12991254	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12992090	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12994592	0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs13002946	0.88[ASN][1000 genomes]
rs13010010	0.80[EUR][1000 genomes]
rs13017207	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13018640	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13019179	1.00[YRI][hapmap]
rs13026143	0.80[EUR][1000 genomes]
rs13026283	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13034176	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1465800	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1465801	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2309757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2309812	0.80[EUR][1000 genomes]
rs2309837	0.80[ASN][1000 genomes]
rs2309838	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2871344	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4303732	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4583487	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4622752	1.00[YRI][hapmap]
rs4851264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4851266	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851267	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4851268	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4851269	0.81[ASN][1000 genomes]
rs4851270	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4851271	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6709656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6722241	0.87[ASN][1000 genomes]
rs6722661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6750097	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6750505	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6754937	0.80[ASN][1000 genomes]
rs7566527	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs893246	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9653442	0.80[ASN][1000 genomes]
rs999052	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100806200-100814200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:100809600-100815600	Enhancers	Fetal Lung	lung
3	chr2:100809800-100814200	Enhancers	Adipose Nuclei	Adipose
4	chr2:100810200-100814400	Weak transcription	K562	blood
5	chr2:100810600-100814200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:100810600-100814200	Weak transcription	Psoas Muscle	Psoas
7	chr2:100810800-100814200	Weak transcription	Stomach Mucosa	stomach
8	chr2:100811600-100814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:100811800-100816600	Enhancers	Lung	lung
10	chr2:100812200-100815600	Enhancers	Right Ventricle	heart
11	chr2:100812200-100816000	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:100812400-100814400	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:100812400-100814600	Enhancers	Colon Smooth Muscle	Colon
14	chr2:100812400-100815600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:100812400-100815600	Enhancers	Left Ventricle	heart
16	chr2:100812400-100815800	Enhancers	Placenta	Placenta
17	chr2:100812600-100815800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:100812800-100814200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:100812800-100814200	Weak transcription	Aorta	Aorta
20	chr2:100812800-100814200	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:100812800-100815600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:100812800-100815800	Enhancers	Fetal Muscle Leg	muscle
23	chr2:100813200-100814200	Weak transcription	Pancreas	Pancrea
24	chr2:100813400-100814200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:100813400-100815000	Enhancers	Fetal Heart	heart
26	chr2:100813400-100815200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:100813400-100815400	Enhancers	Fetal Intestine Large	intestine
28	chr2:100813400-100815400	Enhancers	Fetal Stomach	stomach
29	chr2:100813400-100816200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:100813400-100817000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:100813600-100814400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:100813600-100814600	Flanking Active TSS	Osteobl	bone
33	chr2:100813600-100814800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr2:100813600-100814800	Enhancers	Fetal Brain Male	brain
35	chr2:100813600-100815200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:100813600-100815200	Enhancers	HSMM	muscle
37	chr2:100813600-100815400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:100813600-100815600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:100813600-100815600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:100813600-100815600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:100813600-100815600	Enhancers	Fetal Intestine Small	intestine
42	chr2:100813600-100815600	Enhancers	HSMMtube	muscle
43	chr2:100813600-100815600	Enhancers	NHDF-Ad	bronchial
44	chr2:100813600-100815800	Enhancers	Ovary	ovary
45	chr2:100813600-100816200	Enhancers	Right Atrium	heart
46	chr2:100813600-100816200	Enhancers	HUVEC	blood vessel
47	chr2:100813800-100814600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:100813800-100815400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:100813800-100815400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:100813800-100815600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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