Variant report

Variant	rs3813371
Chromosome Location	chr6:128513535-128513536
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128504665..128506343-chr6:128510955..128513912,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1012049	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10485160	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs11961542	0.84[ASN][1000 genomes]
rs11962214	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11962916	0.81[YRI][hapmap]
rs12055654	0.85[ASN][1000 genomes]
rs1543376	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17055441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[ASN][1000 genomes]
rs17055472	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs17055477	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1738288	1.00[CEU][hapmap]
rs2076572	0.84[ASN][1000 genomes]
rs3813372	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs3813373	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140541	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4243494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4421217	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4897252	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61583694	0.84[ASN][1000 genomes]
rs6913738	0.81[YRI][hapmap]
rs6928143	0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6933029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6938118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs730202	0.83[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs73590658	0.89[AFR][1000 genomes]
rs73590673	0.85[ASN][1000 genomes]
rs742736	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs7753945	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7755836	0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7773849	0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9321113	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs9372885	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9372886	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs9375550	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9375551	0.94[ASN][1000 genomes]
rs9375552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9375553	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs9375555	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs9375556	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs9375557	0.85[ASN][1000 genomes]
rs9375558	0.84[ASN][1000 genomes]
rs9385455	0.84[ASN][1000 genomes]
rs9388618	0.96[ASN][1000 genomes]
rs9388619	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[ASN][1000 genomes]
rs9388622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9388623	0.88[JPT][hapmap]
rs9388625	0.85[ASN][1000 genomes]
rs9388626	0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9388627	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs9398865	0.87[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs9398866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[ASN][1000 genomes]
rs9398868	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs9402023	0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs9402024	0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9402029	0.84[ASN][1000 genomes]
rs9402030	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs9402031	0.80[JPT][hapmap]
rs9402032	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9784773	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs9784880	0.83[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv604646	chr6:128421762-128531651	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv604647	chr6:128421762-128547177	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv886651	chr6:128450019-128565778	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv886653	chr6:128455539-128555805	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv886654	chr6:128471938-128555805	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island 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	chr6:128465600-128523200	Weak transcription	Left Ventricle	heart
2	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
3	chr6:128489800-128514200	Weak transcription	Gastric	stomach
4	chr6:128490000-128520200	Weak transcription	Fetal Intestine Small	intestine
5	chr6:128492600-128567800	Weak transcription	Ovary	ovary
6	chr6:128494400-128526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:128495000-128523400	Weak transcription	HSMMtube	muscle
8	chr6:128499800-128513800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:128503200-128541800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:128505400-128514000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:128505800-128514200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:128505800-128515800	Weak transcription	HMEC	breast
13	chr6:128505800-128523200	Weak transcription	Fetal Thymus	thymus
14	chr6:128505800-128525600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:128505800-128525600	Weak transcription	NHEK	skin
16	chr6:128505800-128538800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:128505800-128552200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:128506000-128513800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:128506000-128523600	Weak transcription	HepG2	liver
20	chr6:128506000-128561000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:128506400-128515600	Weak transcription	HSMM	muscle
22	chr6:128508800-128515600	Weak transcription	Osteobl	bone
23	chr6:128508800-128515800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:128509000-128515200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:128510200-128513800	Weak transcription	Brain Substantia Nigra	brain
26	chr6:128510200-128518800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:128510200-128521000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:128513200-128513600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:128513400-128513800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:128513400-128515800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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