Variant report

Variant	rs2257389
Chromosome Location	chr5:61686647-61686648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61686012..61687975-chr5:61698243..61700042,2	MCF-7	breast:
2	chr5:61686362..61687960-chr5:61708194..61709938,2	MCF-7	breast:
3	chr5:61684677..61686970-chr5:61690927..61693209,3	K562	blood:

Variant related genes	Relation type
ENSG00000086189	Chromatin interaction
ENSG00000086200	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10062264	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1054897	0.95[YRI][hapmap];0.99[AFR][1000 genomes]
rs10939936	0.89[AFR][1000 genomes]
rs12153750	0.89[AFR][1000 genomes]
rs12187566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12519766	0.92[AFR][1000 genomes]
rs12696991	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs153868	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs185055	0.80[AFR][1000 genomes]
rs2063256	0.89[YRI][hapmap]
rs2272290	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs2463078	0.81[YRI][hapmap];0.96[AFR][1000 genomes]
rs264524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs264525	0.89[AFR][1000 genomes]
rs264529	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs264532	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs32052	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4700491	0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs6863617	0.92[AFR][1000 genomes]
rs73104056	0.94[AFR][1000 genomes]
rs73104058	0.94[AFR][1000 genomes]
rs7729719	0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs9981	0.99[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61642400-61697400	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:61642600-61688400	Weak transcription	Right Ventricle	heart
3	chr5:61642600-61696000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:61642600-61699200	Weak transcription	Gastric	stomach
5	chr5:61643000-61697000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:61644000-61689000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:61645400-61689200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:61647000-61690000	Weak transcription	Spleen	Spleen
9	chr5:61647600-61698000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:61656200-61698000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:61656800-61687800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:61658400-61691800	Strong transcription	Dnd41	blood
13	chr5:61659800-61695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:61661800-61698000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:61662000-61697800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:61662000-61697800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:61664600-61689200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:61665400-61699000	Weak transcription	Esophagus	oesophagus
19	chr5:61665600-61688000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:61666800-61698000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:61667000-61691200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:61667000-61691600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:61667000-61697200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr5:61667400-61697200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:61667600-61697800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:61667600-61698000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:61668000-61698000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:61668600-61697000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:61669200-61690200	Strong transcription	HUVEC	blood vessel
30	chr5:61669400-61690800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:61669600-61687600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:61670000-61697200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:61670800-61690000	Weak transcription	Aorta	Aorta
34	chr5:61672000-61698600	Weak transcription	Stomach Mucosa	stomach
35	chr5:61675000-61697800	Weak transcription	Small Intestine	intestine
36	chr5:61676800-61689000	Weak transcription	Ovary	ovary
37	chr5:61676800-61697800	Weak transcription	Right Atrium	heart
38	chr5:61676800-61699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:61677000-61689400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:61679000-61687000	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr5:61679200-61691000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:61679400-61690000	Weak transcription	Lung	lung
43	chr5:61679400-61692200	Strong transcription	Fetal Thymus	thymus
44	chr5:61679600-61691200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:61679600-61697000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:61679600-61697600	Strong transcription	Liver	Liver
47	chr5:61680000-61686800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:61680000-61696000	Strong transcription	HSMM	muscle
49	chr5:61680000-61697200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr5:61680000-61697200	Strong transcription	Adipose Nuclei	Adipose

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