Variant report

Variant	rs28673271
Chromosome Location	chr6:36791220-36791221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11751790	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11751844	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11754437	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11756425	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11758600	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11758807	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12661551	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2071822	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2071823	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs236381	0.97[ASN][1000 genomes]
rs28656041	0.98[ASN][1000 genomes]
rs4711470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711472	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4714015	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4714019	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs60097056	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62406642	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62406644	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6910582	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6913047	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72846083	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9349015	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9368961	0.98[ASN][1000 genomes]
rs9368963	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368964	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9368965	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9380605	0.86[ASN][1000 genomes]
rs9380607	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380614	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9394387	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5261	chr6:36754545-36798824	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3396486	chr6:36788274-36793172	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36777000-36797800	Weak transcription	Pancreas	Pancrea
2	chr6:36779000-36794000	Weak transcription	Brain Germinal Matrix	brain
3	chr6:36779400-36797600	Weak transcription	Fetal Brain Female	brain
4	chr6:36781600-36794200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:36787400-36796400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:36788400-36802400	Weak transcription	Fetal Kidney	kidney
7	chr6:36788600-36792800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:36788800-36792000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:36788800-36793200	Enhancers	Adipose Nuclei	Adipose
10	chr6:36788800-36797200	Enhancers	Right Atrium	heart
11	chr6:36789000-36791800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:36789200-36792400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr6:36789200-36796400	Enhancers	Left Ventricle	heart
14	chr6:36789400-36792200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:36789400-36793200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:36789400-36794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:36789400-36794400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:36789400-36796000	Enhancers	K562	blood
19	chr6:36789600-36791400	Weak transcription	Spleen	Spleen
20	chr6:36789600-36794000	Enhancers	HUVEC	blood vessel
21	chr6:36789600-36794600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:36789800-36794000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:36789800-36794200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:36789800-36794200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:36789800-36794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:36789800-36802200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:36790000-36794200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:36790000-36794400	Weak transcription	HMEC	breast
29	chr6:36790000-36794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:36790200-36794400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:36790400-36793800	Weak transcription	Brain Anterior Caudate	brain
32	chr6:36790400-36794600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:36790600-36791400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:36790600-36794200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:36790600-36794400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:36790600-36799400	Enhancers	Fetal Muscle Leg	muscle
37	chr6:36790800-36791600	Weak transcription	Right Ventricle	heart
38	chr6:36790800-36791800	Bivalent Enhancer	HepG2	liver
39	chr6:36790800-36792000	Weak transcription	Fetal Heart	heart
40	chr6:36790800-36795600	Enhancers	Esophagus	oesophagus
41	chr6:36791000-36791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:36791000-36791600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:36791000-36791800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
44	chr6:36791000-36792000	Weak transcription	Placenta	Placenta
45	chr6:36791000-36795200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:36791200-36791400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:36791200-36792000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:36791200-36793000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:36791200-36794000	Weak transcription	Lung	lung
50	chr6:36791200-36794400	Enhancers	Fetal Muscle Trunk	muscle

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