Variant report

Variant	rs1995734
Chromosome Location	chr2:73008355-73008356
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10211019	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1027848	0.84[EUR][1000 genomes]
rs1032982	1.00[CHB][hapmap]
rs10460572	1.00[ASN][1000 genomes]
rs10496186	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865391	1.00[ASN][1000 genomes]
rs10865392	1.00[ASN][1000 genomes]
rs10865393	0.84[EUR][1000 genomes]
rs11126373	1.00[ASN][1000 genomes]
rs11126374	1.00[ASN][1000 genomes]
rs11126385	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150500	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1161265	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1161267	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs11676555	1.00[CHB][hapmap]
rs11677707	1.00[CHB][hapmap]
rs11679683	1.00[CHB][hapmap]
rs11684985	1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685114	1.00[CHB][hapmap]
rs11686713	1.00[CHB][hapmap]
rs11894160	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471136	1.00[ASN][1000 genomes]
rs12474728	0.80[EUR][1000 genomes]
rs12476130	1.00[ASN][1000 genomes]
rs12618390	1.00[ASN][1000 genomes]
rs12622275	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12713772	1.00[ASN][1000 genomes]
rs12713773	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12713774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713775	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12989141	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996319	1.00[CHB][hapmap]
rs12996406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998681	1.00[ASN][1000 genomes]
rs13006497	1.00[CHB][hapmap]
rs13008041	1.00[ASN][1000 genomes]
rs13008258	1.00[ASN][1000 genomes]
rs13016873	1.00[ASN][1000 genomes]
rs13035731	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1396106	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1446887	1.00[CHB][hapmap]
rs1446888	1.00[ASN][1000 genomes]
rs1446889	1.00[ASN][1000 genomes]
rs1446890	1.00[ASN][1000 genomes]
rs1446891	1.00[ASN][1000 genomes]
rs1446892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1446893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1446895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446896	1.00[CHB][hapmap]
rs1508061	1.00[CHB][hapmap]
rs1567230	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs1596930	1.00[CHB][hapmap]
rs1596931	1.00[CHB][hapmap]
rs17503444	1.00[CHB][hapmap]
rs1911690	1.00[CHB][hapmap]
rs1992799	1.00[ASN][1000 genomes]
rs2048170	0.82[EUR][1000 genomes]
rs2048171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2135985	0.83[EUR][1000 genomes]
rs2138683	1.00[ASN][1000 genomes]
rs2420565	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420880	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2420881	0.84[EUR][1000 genomes]
rs2420883	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2421095	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs4144318	1.00[ASN][1000 genomes]
rs4321391	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs4407272	1.00[ASN][1000 genomes]
rs4852291	1.00[ASN][1000 genomes]
rs4852292	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4852293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852294	1.00[ASN][1000 genomes]
rs4852298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852872	1.00[ASN][1000 genomes]
rs4852875	1.00[ASN][1000 genomes]
rs4852876	1.00[ASN][1000 genomes]
rs4852877	1.00[ASN][1000 genomes]
rs4852878	1.00[ASN][1000 genomes]
rs4852880	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4852883	1.00[CHB][hapmap]
rs4852886	1.00[CHB][hapmap]
rs4852888	1.00[CHB][hapmap]
rs4852889	1.00[CHB][hapmap]
rs4852890	1.00[CHB][hapmap]
rs4852891	1.00[CHB][hapmap]
rs4852893	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852902	0.83[EUR][1000 genomes]
rs6546776	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6546777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6546778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6546779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546781	1.00[CHB][hapmap]
rs6546782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546786	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6546788	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6546789	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6546790	0.83[EUR][1000 genomes]
rs6546791	0.83[EUR][1000 genomes]
rs6546792	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6724529	1.00[CHB][hapmap]
rs6730083	0.92[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs6739002	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742088	1.00[ASN][1000 genomes]
rs6742312	1.00[ASN][1000 genomes]
rs6747378	1.00[ASN][1000 genomes]
rs6750740	0.86[EUR][1000 genomes]
rs6750766	1.00[ASN][1000 genomes]
rs6758431	0.84[EUR][1000 genomes]
rs6758542	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7420391	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560529	1.00[ASN][1000 genomes]
rs7560599	1.00[ASN][1000 genomes]
rs7565198	1.00[ASN][1000 genomes]
rs7571064	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586787	0.89[EUR][1000 genomes]
rs7588400	1.00[CHB][hapmap]
rs7588602	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7591303	1.00[ASN][1000 genomes]
rs7592155	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7601020	1.00[ASN][1000 genomes]
rs7601318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7603797	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925146	0.84[EUR][1000 genomes]
rs925147	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs925148	0.84[EUR][1000 genomes]
rs970577	0.94[YRI][hapmap]
rs983928	1.00[ASN][1000 genomes]
rs990569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1995734	CYP26B1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:72985200-73008400	Weak transcription	Right Atrium	heart
3	chr2:72985200-73015800	Weak transcription	Ovary	ovary
4	chr2:72989400-73015800	Weak transcription	Placenta	Placenta
5	chr2:72990800-73018400	Weak transcription	Aorta	Aorta
6	chr2:72991200-73015800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:72991200-73015800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:72991200-73023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:72993600-73009000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:72999800-73022000	Weak transcription	Right Ventricle	heart
11	chr2:73002600-73011600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:73002600-73012800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:73005200-73008600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:73005400-73016200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:73005800-73011000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:73005800-73011200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:73005800-73012600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:73005800-73015800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:73005800-73016200	Weak transcription	HSMM	muscle
20	chr2:73006000-73009800	Weak transcription	Small Intestine	intestine
21	chr2:73006400-73011200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:73006600-73008600	Enhancers	Brain Substantia Nigra	brain
23	chr2:73006600-73008800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:73006600-73008800	Enhancers	Fetal Lung	lung
25	chr2:73006600-73009000	Enhancers	Hela-S3	cervix
26	chr2:73006600-73009200	Enhancers	Brain Hippocampus Middle	brain
27	chr2:73006800-73008600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:73006800-73009000	Enhancers	Brain Anterior Caudate	brain
29	chr2:73007200-73008600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:73007200-73008600	Weak transcription	Left Ventricle	heart
31	chr2:73007200-73009200	Enhancers	Adipose Nuclei	Adipose
32	chr2:73007200-73011600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:73007400-73008600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:73007400-73008600	Enhancers	HepG2	liver
35	chr2:73007400-73008800	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:73007600-73008400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:73007600-73008400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:73007600-73008600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:73007600-73008800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:73007800-73008800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:73007800-73008800	Enhancers	Brain Angular Gyrus	brain
42	chr2:73007800-73009000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:73008000-73008400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:73008000-73008600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:73008000-73008600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:73008000-73008800	Enhancers	A549	lung
47	chr2:73008000-73009000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:73008000-73009400	Enhancers	HUVEC	blood vessel
49	chr2:73008000-73014200	Enhancers	Fetal Heart	heart
50	chr2:73008000-73016000	Weak transcription	HMEC	breast

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