Variant report

Variant	rs4312431
Chromosome Location	chr2:148921724-148921725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10084287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1037300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10427294	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227480	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1237192	0.82[AFR][1000 genomes]
rs12623429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1375860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1530757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16828211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16828213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2603601	0.89[AFR][1000 genomes]
rs2603605	0.89[AFR][1000 genomes]
rs2627024	0.89[AFR][1000 genomes]
rs4383275	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972271	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4972335	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56986186	0.91[AFR][1000 genomes]
rs6430299	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739781	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574172	0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv916766	chr2:148743880-148955720	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv875276	chr2:148844369-148996824	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv997674	chr2:148862630-148995570	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1007998	chr2:148866051-148995570	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv999952	chr2:148884787-148938697	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148906000-148937000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:148911400-148942400	Weak transcription	Ovary	ovary
3	chr2:148913000-148977600	Weak transcription	Aorta	Aorta
4	chr2:148913400-148930400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:148913600-148923200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:148914200-148923800	Weak transcription	Fetal Kidney	kidney
7	chr2:148914800-148936000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:148915000-148937000	Weak transcription	Adipose Nuclei	Adipose
9	chr2:148915200-148929600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:148915400-148929600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:148916800-148938600	Weak transcription	Primary B cells from cord blood	blood
12	chr2:148917200-148928400	Weak transcription	Primary T cells from cord blood	blood
13	chr2:148917200-148929400	Weak transcription	Fetal Stomach	stomach
14	chr2:148917800-148937200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:148918800-148938000	Weak transcription	Fetal Lung	lung
16	chr2:148919800-148945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:148920000-148937000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:148921000-148924000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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