Variant report

Variant	rs684612
Chromosome Location	chr5:177913591-177913592
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	chr5:177912045..177914389-chr5:177919098..177921696,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1106073	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs11249548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13187323	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2138106	0.81[ASN][1000 genomes]
rs496044	0.89[ASN][1000 genomes]
rs55928357	0.88[EUR][1000 genomes]
rs593536	0.85[ASN][1000 genomes]
rs62389453	0.93[EUR][1000 genomes]
rs6872951	0.81[JPT][hapmap]
rs6875013	0.93[EUR][1000 genomes]
rs7718220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7729827	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs7730172	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs952087	1.00[CEU][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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv883213	chr5:177811754-177947771	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1029822	chr5:177872333-177931889	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1033039	chr5:177873974-177926244	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv537971	chr5:177873974-177926244	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1030915	chr5:177880081-177934927	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv462571	chr5:177898650-177961860	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv600424	chr5:177898650-177961860	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	esv3360593	chr5:177913532-177913705	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177911200-177914200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr5:177912600-177916400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:177912600-177917000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:177912800-177913600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:177912800-177914000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:177912800-177914200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:177912800-177915600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:177912800-177916400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:177913000-177913800	Enhancers	Fetal Lung	lung
10	chr5:177913000-177914000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:177913000-177914000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:177913000-177914000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr5:177913000-177916000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:177913000-177916400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:177913200-177913600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:177913200-177913600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:177913200-177913600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177913200-177913600	Enhancers	Primary B cells from cord blood	blood
19	chr5:177913200-177913600	Enhancers	Ovary	ovary
20	chr5:177913200-177914000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:177913200-177914000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:177913200-177914000	Enhancers	Fetal Stomach	stomach
23	chr5:177913200-177914200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:177913400-177913600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr5:177913400-177913600	Enhancers	Right Atrium	heart
26	chr5:177913400-177913600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
27	chr5:177913400-177913800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr5:177913400-177914600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:177913400-177915200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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