Variant report

Variant	rs6544918
Chromosome Location	chr2:46944265-46944266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46942841..46944899-chr2:46960236..46962227,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1009230	0.86[YRI][hapmap];0.89[ASN][1000 genomes]
rs1009231	0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs10167561	0.90[ASN][1000 genomes]
rs10168342	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11125087	0.90[ASN][1000 genomes]
rs12475080	0.85[ASN][1000 genomes]
rs1456009	0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs1471056	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1471057	0.86[ASN][1000 genomes]
rs1813505	0.95[ASN][1000 genomes]
rs1867819	0.95[CHB][hapmap];0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs2045291	0.88[ASN][1000 genomes]
rs2061182	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3738890	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3768720	0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3814039	0.88[ASN][1000 genomes]
rs4361172	0.86[ASN][1000 genomes]
rs4522653	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4953414	0.88[ASN][1000 genomes]
rs4953415	0.90[ASN][1000 genomes]
rs4953418	0.91[ASN][1000 genomes]
rs6544913	0.82[CEU][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs6544917	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6544919	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6544921	0.90[ASN][1000 genomes]
rs6705847	0.86[ASN][1000 genomes]
rs6718658	0.83[YRI][hapmap]
rs6718677	0.92[ASN][1000 genomes]
rs6721122	0.86[ASN][1000 genomes]
rs6726345	0.86[ASN][1000 genomes]
rs6727737	0.83[CEU][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs6727934	0.82[ASN][1000 genomes]
rs6728559	0.81[ASN][1000 genomes]
rs6730949	0.93[ASN][1000 genomes]
rs6740539	0.85[YRI][hapmap]
rs6741706	0.92[ASN][1000 genomes]
rs6746471	0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6748938	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7568007	0.82[ASN][1000 genomes]
rs7570376	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7580649	0.93[ASN][1000 genomes]
rs897528	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs958726	0.91[ASN][1000 genomes]
rs991742	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46928600-46944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:46928800-46946200	Weak transcription	NHEK	skin
3	chr2:46934000-46947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:46934600-46946400	Weak transcription	HSMM	muscle
5	chr2:46936000-46945000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:46936800-46946200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:46940600-46946400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:46941200-46944800	ZNF genes & repeats	A549	lung
9	chr2:46941200-46945400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr2:46941400-46944400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:46941400-46945200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:46942400-46947800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:46942800-46946400	Weak transcription	HUVEC	blood vessel
14	chr2:46942800-46948600	Enhancers	NH-A	brain
15	chr2:46943400-46945200	Weak transcription	Primary T cells from cord blood	blood
16	chr2:46943600-46944400	Enhancers	Left Ventricle	heart
17	chr2:46943600-46944400	Enhancers	Ovary	ovary
18	chr2:46943600-46944400	Enhancers	Pancreas	Pancrea
19	chr2:46943600-46944400	Flanking Active TSS	NHLF	lung
20	chr2:46943600-46944600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:46943600-46944600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr2:46943600-46944600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:46943600-46944600	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr2:46943600-46945200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:46943600-46945600	Flanking Active TSS	Osteobl	bone
26	chr2:46943800-46944600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:46943800-46944600	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr2:46943800-46945000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:46943800-46945200	Enhancers	HepG2	liver
30	chr2:46943800-46945400	Enhancers	Psoas Muscle	Psoas
31	chr2:46943800-46947800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:46943800-46948000	Weak transcription	Fetal Stomach	stomach
33	chr2:46944000-46944600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:46944000-46944600	Flanking Active TSS	NHDF-Ad	bronchial
35	chr2:46944000-46944800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:46944000-46944800	Weak transcription	Right Atrium	heart
37	chr2:46944000-46944800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:46944000-46945000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:46944000-46945200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:46944000-46945200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:46944000-46945400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:46944000-46945400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:46944000-46945400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:46944000-46945400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:46944000-46945600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:46944000-46946400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:46944000-46946600	Weak transcription	Fetal Thymus	thymus
48	chr2:46944200-46944400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:46944200-46944400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:46944200-46944400	Enhancers	Duodenum Smooth Muscle	Duodenum

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