Variant report

Variant	rs1997206
Chromosome Location	chr2:178535306-178535307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497493	0.84[YRI][hapmap]
rs10497497	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11679730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap]
rs12618150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620285	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13000926	0.97[YRI][hapmap]
rs13017234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317945	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431105	1.00[CHB][hapmap]
rs1358326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1405716	0.96[YRI][hapmap]
rs1446839	1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs1527399	0.97[YRI][hapmap]
rs1527400	0.96[YRI][hapmap]
rs1527402	0.96[YRI][hapmap]
rs1527403	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1527410	0.96[YRI][hapmap]
rs1534305	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1544001	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544003	0.96[YRI][hapmap]
rs1547580	0.93[YRI][hapmap]
rs1547581	0.97[YRI][hapmap]
rs1918345	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918346	0.93[EUR][1000 genomes]
rs1918347	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1997207	0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997208	0.97[YRI][hapmap]
rs2091442	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222712	0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695315	1.00[CHB][hapmap]
rs2886422	0.97[YRI][hapmap]
rs4110134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341975	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893970	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4893973	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4893975	0.93[YRI][hapmap]
rs4893976	0.97[YRI][hapmap]
rs4893978	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893979	0.95[EUR][1000 genomes]
rs5025340	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433685	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433686	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433687	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433688	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721360	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723031	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6723063	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6746233	0.83[EUR][1000 genomes]
rs6755382	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6756918	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7422544	0.96[YRI][hapmap]
rs7560080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573345	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7577552	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7597640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3400322	chr2:178535247-178535634	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178531400-178535800	Weak transcription	GM12878-XiMat	blood
2	chr2:178531400-178540000	Weak transcription	K562	blood
3	chr2:178532800-178537000	Enhancers	Fetal Kidney	kidney
4	chr2:178532800-178538000	Weak transcription	HSMM	muscle
5	chr2:178533400-178535800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:178533800-178536600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr2:178533800-178536600	Enhancers	Dnd41	blood
8	chr2:178534000-178537200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:178534200-178535400	Enhancers	Liver	Liver
10	chr2:178534200-178537000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:178534400-178537400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr2:178534800-178536000	Enhancers	Psoas Muscle	Psoas
13	chr2:178534800-178536200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:178534800-178536200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:178534800-178537000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:178534800-178537000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:178534800-178537200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr2:178535000-178535400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr2:178535000-178535400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr2:178535000-178535600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:178535000-178535800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:178535000-178536000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:178535000-178544800	Weak transcription	Right Atrium	heart
24	chr2:178535200-178535800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
25	chr2:178535200-178536200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr2:178535200-178536800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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