Variant report

Variant	rs4712905
Chromosome Location	chr6:25306732-25306733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12055697	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16890366	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1883393	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2143023	0.85[ASN][1000 genomes]
rs2690042	0.95[CHB][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2744287	0.95[CHB][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4712904	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4712906	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4712907	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs55967593	0.85[ASN][1000 genomes]
rs55999195	0.97[ASN][1000 genomes]
rs58191968	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs60084615	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6456664	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6456665	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6456666	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6456668	0.96[ASN][1000 genomes]
rs6903148	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6906812	0.83[ASN][1000 genomes]
rs6913606	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6913886	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6914439	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6914514	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6914654	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6914798	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6914930	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6915270	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6917631	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6921343	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6923529	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6927238	0.81[ASN][1000 genomes]
rs6938281	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6938594	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs730711	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73392399	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73396126	0.83[ASN][1000 genomes]
rs7741580	0.86[ASN][1000 genomes]
rs7743750	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7746942	0.95[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7746969	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7755701	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7756143	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7758529	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7759796	0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7759828	0.85[ASN][1000 genomes]
rs7759879	0.86[ASN][1000 genomes]
rs7760067	0.85[ASN][1000 genomes]
rs7760151	0.85[ASN][1000 genomes]
rs7764111	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs9295654	0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9295655	0.84[LWK][hapmap]
rs9348671	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9356974	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9356975	0.90[JPT][hapmap]
rs9366616	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9366617	0.84[LWK][hapmap]
rs9379752	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9379753	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9379754	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap]
rs9393639	0.85[ASN][1000 genomes]
rs9461132	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9461134	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9461135	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9461136	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9467466	0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs999039	0.95[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.89[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	nsv1025694	chr6:25136860-25309450	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv883485	chr6:25259137-25437986	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv883486	chr6:25260434-25422369	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883487	chr6:25280119-25508868	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25290400-25313400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:25294200-25311200	Weak transcription	Lung	lung
3	chr6:25298000-25311800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:25301400-25313400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:25301600-25311600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:25302000-25312800	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:25302600-25311200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:25302600-25312400	Weak transcription	Thymus	Thymus
9	chr6:25302800-25307600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:25302800-25312200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:25303200-25308200	Weak transcription	Ovary	ovary
12	chr6:25303200-25311200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:25303200-25311600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:25303200-25314800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:25303400-25306800	Enhancers	Duodenum Mucosa	Duodenum
16	chr6:25303400-25310200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:25303400-25311600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:25303400-25315400	Weak transcription	Fetal Kidney	kidney
19	chr6:25303800-25308000	Weak transcription	Fetal Heart	heart
20	chr6:25303800-25308000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:25303800-25308000	Weak transcription	HSMMtube	muscle
22	chr6:25303800-25311800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:25303800-25312400	Weak transcription	Adipose Nuclei	Adipose
24	chr6:25304000-25307400	Weak transcription	Stomach Mucosa	stomach
25	chr6:25304000-25308200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:25304000-25311400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:25304000-25311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:25304200-25309400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:25304200-25310200	Weak transcription	NHLF	lung
30	chr6:25304200-25311400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:25305000-25310400	Weak transcription	Right Atrium	heart
32	chr6:25305000-25311200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:25305000-25324400	Weak transcription	Left Ventricle	heart
34	chr6:25305400-25311600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:25305600-25308000	Weak transcription	Fetal Intestine Large	intestine
36	chr6:25305600-25311600	Weak transcription	Fetal Lung	lung
37	chr6:25305600-25311800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:25305800-25306800	Weak transcription	Small Intestine	intestine
39	chr6:25306000-25307400	Weak transcription	Fetal Intestine Small	intestine
40	chr6:25306000-25310200	Weak transcription	A549	lung
41	chr6:25306200-25306800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:25306400-25306800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr6:25306400-25306800	Active TSS	Brain Anterior Caudate	brain
44	chr6:25306600-25307400	Enhancers	Aorta	Aorta
45	chr6:25306600-25311600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:25306600-25331400	Weak transcription	Spleen	Spleen

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