Variant report

Variant	rs6930547
Chromosome Location	chr6:128524953-128524954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12055776	0.91[ASN][1000 genomes]
rs17055441	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2073161	0.91[ASN][1000 genomes]
rs3813372	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4140542	0.88[ASN][1000 genomes]
rs4243494	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4421217	0.80[ASN][1000 genomes]
rs4483000	0.90[ASN][1000 genomes]
rs4557544	1.00[EUR][1000 genomes]
rs4628122	0.87[EUR][1000 genomes]
rs61422755	0.90[ASN][1000 genomes]
rs6933029	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6938118	0.80[ASN][1000 genomes]
rs7753945	0.80[ASN][1000 genomes]
rs7755473	0.91[ASN][1000 genomes]
rs9321111	1.00[EUR][1000 genomes]
rs9372887	0.89[ASN][1000 genomes]
rs9375551	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9375552	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9375553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375554	0.91[ASN][1000 genomes]
rs9385450	1.00[EUR][1000 genomes]
rs9385452	0.91[ASN][1000 genomes]
rs9385454	0.90[ASN][1000 genomes]
rs9388618	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9388619	0.80[ASN][1000 genomes]
rs9388621	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9388622	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9388623	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9388624	0.91[ASN][1000 genomes]
rs9398864	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9398866	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9398867	0.89[ASN][1000 genomes]
rs9402019	1.00[EUR][1000 genomes]
rs9402025	0.91[ASN][1000 genomes]
rs9402027	0.91[ASN][1000 genomes]
rs9402028	0.91[ASN][1000 genomes]
rs9402031	0.90[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
2	chr6:128492600-128567800	Weak transcription	Ovary	ovary
3	chr6:128494400-128526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:128503200-128541800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:128505800-128525600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:128505800-128525600	Weak transcription	NHEK	skin
7	chr6:128505800-128538800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:128505800-128552200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:128506000-128561000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:128513600-128525600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:128514000-128530600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:128516000-128530400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:128516800-128526000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:128516800-128526000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:128519200-128525600	Weak transcription	Primary B cells from cord blood	blood
16	chr6:128520400-128536800	Weak transcription	Fetal Intestine Large	intestine
17	chr6:128520400-128573800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:128520800-128528200	Weak transcription	NH-A	brain
19	chr6:128521200-128526200	Weak transcription	Fetal Intestine Small	intestine
20	chr6:128522000-128560800	Weak transcription	Primary T cells from cord blood	blood
21	chr6:128522600-128530400	Weak transcription	Liver	Liver
22	chr6:128523400-128525200	Enhancers	HSMMtube	muscle
23	chr6:128523800-128528000	Weak transcription	Right Atrium	heart
24	chr6:128523800-128530400	Weak transcription	Right Ventricle	heart
25	chr6:128523800-128538200	Weak transcription	Fetal Thymus	thymus
26	chr6:128523800-128540600	Weak transcription	Lung	lung
27	chr6:128523800-128543600	Weak transcription	Left Ventricle	heart
28	chr6:128524000-128528400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:128524000-128528400	Weak transcription	HepG2	liver
30	chr6:128524200-128526000	Weak transcription	Fetal Heart	heart
31	chr6:128524400-128525000	Enhancers	Primary B cells from peripheral blood	blood
32	chr6:128524600-128525200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:128524800-128525000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:128524800-128525000	Enhancers	HMEC	breast
35	chr6:128524800-128525400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:128524800-128526200	Enhancers	HSMM	muscle

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