Variant report

Variant	rs17055223
Chromosome Location	chr6:128344785-128344786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10046118	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10046119	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11962156	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13217988	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17055231	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17055235	1.00[GIH][hapmap]
rs1883810	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2326672	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35335036	0.91[EUR][1000 genomes]
rs4265047	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4327718	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4336462	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4339480	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4345415	0.82[EUR][1000 genomes]
rs4421216	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4475344	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4498384	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4598101	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs4895829	0.89[CEU][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs4897239	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4897240	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4897241	0.90[TSI][hapmap]
rs4897242	0.89[CEU][hapmap];0.95[TSI][hapmap]
rs4897243	0.89[CEU][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs6569520	0.94[CEU][hapmap];0.88[LWK][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6569521	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs6569522	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs6569523	0.89[CEU][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs6913095	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6913595	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6928445	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6928496	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6928512	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6938574	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs71565676	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7756639	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7757761	0.89[CEU][hapmap];0.89[TSI][hapmap]
rs7769691	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs7774703	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs9321106	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9321107	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9321108	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs9321109	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs9375546	0.89[CEU][hapmap];1.00[TSI][hapmap]
rs9388616	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9482856	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9482857	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9482858	0.94[CEU][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9482859	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9482860	0.94[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9482861	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9482862	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9482863	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9482864	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9482865	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9482866	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9482867	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9482868	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9482869	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9482871	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs9482872	0.89[CEU][hapmap]
rs9491904	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9491905	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9491906	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs970363	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs970364	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][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	nsv604642	chr6:128278798-128351143	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
2	chr6:128293600-128374400	Weak transcription	Pancreas	Pancrea
3	chr6:128298000-128352600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:128305200-128353000	Weak transcription	Left Ventricle	heart
5	chr6:128307800-128370800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:128311600-128387200	Weak transcription	NH-A	brain
7	chr6:128311800-128378400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:128314000-128367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:128320800-128350200	Weak transcription	Fetal Thymus	thymus
10	chr6:128320800-128357800	Weak transcription	Fetal Intestine Small	intestine
11	chr6:128320800-128388200	Weak transcription	NHEK	skin
12	chr6:128326400-128351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:128326600-128356600	Weak transcription	HSMM	muscle
14	chr6:128326600-128388200	Weak transcription	HMEC	breast
15	chr6:128329200-128353000	Weak transcription	HepG2	liver
16	chr6:128330200-128353000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:128337000-128346200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:128337400-128378400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:128338800-128345000	Weak transcription	Stomach Mucosa	stomach
20	chr6:128341200-128353200	Weak transcription	Fetal Heart	heart
21	chr6:128341200-128374400	Weak transcription	HSMMtube	muscle
22	chr6:128341400-128351200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:128341800-128350800	Weak transcription	Primary B cells from cord blood	blood
24	chr6:128342200-128371000	Weak transcription	Liver	Liver
25	chr6:128342600-128351000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:128342600-128388600	Weak transcription	Fetal Brain Female	brain
27	chr6:128342800-128345000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:128343600-128353000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:128343800-128346000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:128344000-128346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:128344200-128346000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:128344200-128346400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:128344200-128352800	Weak transcription	Fetal Intestine Large	intestine
34	chr6:128344400-128346000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:128344600-128346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:128344600-128369200	Weak transcription	Ovary	ovary

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