Variant report

Variant	rs17060395
Chromosome Location	chr4:175137313-175137314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175132325..175134757-chr4:175137089..175139873,3	K562	blood:
2	chr4:175112932..175114755-chr4:175136391..175138788,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10434410	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10520278	0.80[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10520279	0.80[CEU][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap]
rs13122347	0.80[CEU][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap]
rs13137178	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1396193	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17060404	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17060428	0.87[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17060454	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs35190385	0.82[ASN][1000 genomes]
rs35593724	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35689614	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62335793	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62335798	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6553781	0.91[JPT][hapmap]
rs66919862	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6840664	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7671444	0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7696841	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs906569	0.87[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs906570	1.00[ASW][hapmap];0.87[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs954927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175135800-175138200	Weak transcription	Pancreas	Pancrea
2	chr4:175136000-175138000	Bivalent Enhancer	Fetal Heart	heart
3	chr4:175136000-175138400	Weak transcription	Aorta	Aorta
4	chr4:175136200-175137600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:175136200-175137800	Weak transcription	Placenta	Placenta
6	chr4:175136200-175137800	Weak transcription	Right Ventricle	heart
7	chr4:175136200-175138000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:175137000-175138800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:175137200-175137400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr4:175137200-175137400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
11	chr4:175137200-175137400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
12	chr4:175137200-175137600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr4:175137200-175137600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:175137200-175137800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:175137200-175137800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
16	chr4:175137200-175138000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr4:175137200-175138200	Bivalent Enhancer	Brain Hippocampus Middle	brain
18	chr4:175137200-175138200	Active TSS	Right Atrium	heart
19	chr4:175137200-175138200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
20	chr4:175137200-175138400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr4:175137200-175138400	Bivalent Enhancer	Fetal Stomach	stomach
22	chr4:175137200-175139200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood

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