Variant report

Variant	rs6546056
Chromosome Location	chr2:64414077-64414078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10179638	0.80[ASN][1000 genomes]
rs10179741	0.80[ASN][1000 genomes]
rs12475563	0.93[ASN][1000 genomes]
rs12987393	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12999721	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12999987	0.98[ASN][1000 genomes]
rs13394665	0.80[ASN][1000 genomes]
rs13411753	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs1370390	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1554877	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17754672	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1866048	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1866049	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1881711	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1973848	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2028149	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2037862	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2037863	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2422115	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2422116	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2901646	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2901647	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34680176	0.96[ASN][1000 genomes]
rs34923691	0.80[ASN][1000 genomes]
rs35299245	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35573827	0.97[ASN][1000 genomes]
rs35591672	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35899183	0.98[ASN][1000 genomes]
rs4671550	0.80[ASN][1000 genomes]
rs4671552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4671553	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4671554	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4671555	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6546057	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546058	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6710681	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6722750	0.83[ASN][1000 genomes]
rs6751738	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7568804	0.80[EUR][1000 genomes]
rs7608530	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv9957	chr2:64341714-64518231	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv13275	chr2:64342247-64515169	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1012905	chr2:64342469-64508983	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1013735	chr2:64342469-64512286	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv3693324	chr2:64342469-64513207	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv999608	chr2:64342469-64517459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1000390	chr2:64343861-64512286	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	esv2756924	chr2:64349202-64521290	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	nsv1004574	chr2:64360195-64478171	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv1004899	chr2:64369300-64513607	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv535769	chr2:64369300-64513607	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv1015084	chr2:64369734-64512286	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	nsv874237	chr2:64402689-64479060	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64402000-64415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:64405200-64416000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:64407200-64416200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:64412800-64414200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:64413400-64414200	Enhancers	Small Intestine	intestine
6	chr2:64413400-64414400	Bivalent Enhancer	Primary B cells from cord blood	blood
7	chr2:64413400-64414400	Enhancers	Fetal Muscle Leg	muscle
8	chr2:64413400-64421600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:64413600-64414200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:64413600-64414200	Enhancers	Placenta	Placenta
11	chr2:64413600-64414400	Enhancers	Stomach Mucosa	stomach
12	chr2:64413600-64414600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:64413600-64414600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:64413600-64415000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr2:64413600-64418600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:64413800-64414200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:64413800-64414200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:64413800-64414200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:64413800-64414200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:64413800-64414200	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:64413800-64414200	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:64413800-64414200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:64413800-64414600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:64413800-64414600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:64413800-64414600	Enhancers	Adipose Nuclei	Adipose
26	chr2:64413800-64414600	Enhancers	HepG2	liver
27	chr2:64413800-64414600	Bivalent Enhancer	NHDF-Ad	bronchial
28	chr2:64413800-64415200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:64413800-64415200	Enhancers	Colon Smooth Muscle	Colon
30	chr2:64413800-64415400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:64413800-64416000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:64413800-64416800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:64414000-64414200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:64414000-64414200	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:64414000-64414200	Enhancers	Lung	lung
36	chr2:64414000-64414200	Enhancers	Spleen	Spleen
37	chr2:64414000-64414400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:64414000-64414400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:64414000-64414400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:64414000-64414400	Enhancers	GM12878-XiMat	blood
41	chr2:64414000-64414600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:64414000-64415000	Enhancers	Liver	Liver
43	chr2:64414000-64415200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:64414000-64416400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:64414000-64417600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:64414000-64419400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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