Variant report

Variant	rs7559554
Chromosome Location	chr2:189181182-189181183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189176846..189180605-chr2:189180936..189184581,4	K562	blood:
2	chr2:189157067..189161608-chr2:189179360..189183934,6	K562	blood:
3	chr2:189157067..189159474-chr2:189179752..189181844,2	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10210696	0.81[JPT][hapmap]
rs10221554	0.82[ASN][1000 genomes]
rs10931341	0.81[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap]
rs10931351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676580	0.86[ASN][1000 genomes]
rs12151472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12151502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12151631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12987194	0.80[CHD][hapmap]
rs13389609	0.82[ASN][1000 genomes]
rs13403138	0.82[ASN][1000 genomes]
rs13416775	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs13432874	0.82[ASN][1000 genomes]
rs16829913	0.80[ASN][1000 genomes]
rs16829916	0.80[ASN][1000 genomes]
rs16829926	0.85[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap]
rs34477786	0.82[ASN][1000 genomes]
rs4337443	0.89[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs4371324	0.82[ASN][1000 genomes]
rs4372844	0.80[ASN][1000 genomes]
rs4430902	0.80[CHD][hapmap]
rs4453654	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458180	0.80[CHD][hapmap]
rs4490147	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4536617	0.80[ASN][1000 genomes]
rs4541223	0.82[ASN][1000 genomes]
rs4552156	0.86[ASN][1000 genomes]
rs4595930	0.82[ASN][1000 genomes]
rs4992744	0.80[CHD][hapmap]
rs60577684	0.80[ASN][1000 genomes]
rs60688387	0.92[ASN][1000 genomes]
rs66579041	0.82[ASN][1000 genomes]
rs66725342	0.82[ASN][1000 genomes]
rs6707721	0.82[ASN][1000 genomes]
rs6708455	0.86[ASN][1000 genomes]
rs6714454	0.89[JPT][hapmap]
rs67324207	0.82[ASN][1000 genomes]
rs6735839	0.95[ASN][1000 genomes]
rs6749420	0.95[ASN][1000 genomes]
rs6749586	0.82[ASN][1000 genomes]
rs67775003	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68056256	0.82[ASN][1000 genomes]
rs72901564	0.82[ASN][1000 genomes]
rs72901581	0.82[ASN][1000 genomes]
rs72903517	0.86[ASN][1000 genomes]
rs72903530	0.95[ASN][1000 genomes]
rs72907635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034491	0.98[ASN][1000 genomes]
rs73034500	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73034501	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73036412	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73036455	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73038414	0.88[ASN][1000 genomes]
rs73039927	0.82[ASN][1000 genomes]
rs73039929	0.82[ASN][1000 genomes]
rs73043732	0.81[ASN][1000 genomes]
rs7422317	0.92[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap]
rs7562160	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586536	0.82[ASN][1000 genomes]
rs7596399	0.82[ASN][1000 genomes]
rs7601023	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs9653312	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs980065	0.89[CHD][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv431890	chr2:189175905-189202876	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189168200-189183200	Weak transcription	Ovary	ovary
2	chr2:189168800-189183200	Weak transcription	A549	lung
3	chr2:189169400-189187200	Weak transcription	NHLF	lung
4	chr2:189170600-189181200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:189170600-189183200	Weak transcription	Gastric	stomach
6	chr2:189172800-189182600	Weak transcription	NHDF-Ad	bronchial
7	chr2:189174000-189181200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:189178400-189182200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:189178400-189191400	Weak transcription	Fetal Lung	lung
10	chr2:189178600-189182000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:189178800-189182000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:189178800-189182200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:189179000-189181400	Enhancers	HMEC	breast
14	chr2:189179000-189182000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:189179000-189182000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:189179000-189183000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:189179400-189181800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:189179400-189183200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:189179400-189187600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:189179600-189182600	Weak transcription	Osteobl	bone
21	chr2:189179800-189181600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:189179800-189183200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:189179800-189187400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:189180000-189181200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:189180000-189182000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:189180000-189182000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:189180000-189183000	Weak transcription	NH-A	brain
28	chr2:189180400-189187400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:189181000-189181800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:189181000-189183200	Enhancers	HUVEC	blood vessel

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