Variant report

Variant	rs2326672
Chromosome Location	chr6:128345934-128345935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10046118	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10046119	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10046162	0.83[ASN][1000 genomes]
rs10499136	0.83[ASN][1000 genomes]
rs11962156	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11962619	0.97[ASN][1000 genomes]
rs11963140	0.97[ASN][1000 genomes]
rs11967205	0.91[ASN][1000 genomes]
rs11967507	0.97[ASN][1000 genomes]
rs13217988	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17055223	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17055231	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17055235	0.97[ASN][1000 genomes]
rs1883810	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28874136	0.83[ASN][1000 genomes]
rs35335036	0.81[EUR][1000 genomes]
rs4265047	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4327718	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4336462	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4339480	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4421216	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4475344	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4496822	0.86[ASN][1000 genomes]
rs4498384	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4895828	0.83[ASN][1000 genomes]
rs4897241	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897242	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58544367	1.00[ASN][1000 genomes]
rs58766015	0.97[ASN][1000 genomes]
rs60702670	0.97[ASN][1000 genomes]
rs6569520	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6912749	0.91[ASN][1000 genomes]
rs6913095	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6928445	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6928496	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6928512	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71565676	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341312	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73582696	0.97[ASN][1000 genomes]
rs73773990	0.91[ASN][1000 genomes]
rs73773992	0.91[ASN][1000 genomes]
rs7752113	0.89[ASN][1000 genomes]
rs7756639	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7757761	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7758689	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9321106	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9321107	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9321110	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9375546	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9388616	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9402016	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9482856	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9482858	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9482859	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9482860	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9482861	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9482862	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9482863	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9482864	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9482865	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9482866	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9482867	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9482868	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9482869	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9482872	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9491904	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9491905	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9491906	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9491909	0.83[ASN][1000 genomes]
rs970363	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs970364	0.84[AMR][1000 genomes];0.82[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	chr6:128341200-128353200	Weak transcription	Fetal Heart	heart
20	chr6:128341200-128374400	Weak transcription	HSMMtube	muscle
21	chr6:128341400-128351200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:128341800-128350800	Weak transcription	Primary B cells from cord blood	blood
23	chr6:128342200-128371000	Weak transcription	Liver	Liver
24	chr6:128342600-128351000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:128342600-128388600	Weak transcription	Fetal Brain Female	brain
26	chr6:128343600-128353000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:128343800-128346000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:128344000-128346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:128344200-128346000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:128344200-128346400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:128344200-128352800	Weak transcription	Fetal Intestine Large	intestine
32	chr6:128344400-128346000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:128344600-128346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:128344600-128369200	Weak transcription	Ovary	ovary
35	chr6:128345000-128353000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:128345800-128352400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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