Variant report

Variant	rs72570328
Chromosome Location	chr6:151044526-151044527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12664155	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17080212	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17080238	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1968998	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1968999	0.84[AMR][1000 genomes]
rs2279628	0.80[AMR][1000 genomes]
rs3734411	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4869689	0.82[AMR][1000 genomes]
rs4869692	0.86[AMR][1000 genomes]
rs4869693	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72570331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72570332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72570334	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72570336	0.81[AMR][1000 genomes]
rs72570348	0.87[ASN][1000 genomes]
rs72570349	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72570350	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7748886	0.80[AMR][1000 genomes]
rs7772795	0.82[AMR][1000 genomes]
rs9478790	0.84[AMR][1000 genomes]
rs9478791	0.86[AMR][1000 genomes];0.84[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	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019919	chr6:151028969-151161789	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv538474	chr6:151028969-151161789	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151033600-151050200	Weak transcription	Lung	lung
2	chr6:151035000-151066400	Weak transcription	Right Ventricle	heart
3	chr6:151039000-151058800	Weak transcription	Gastric	stomach
4	chr6:151040000-151055800	Weak transcription	HUVEC	blood vessel
5	chr6:151041200-151044800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:151042400-151045000	Weak transcription	Ovary	ovary
7	chr6:151042400-151045000	Weak transcription	Right Atrium	heart
8	chr6:151042400-151045000	Weak transcription	Spleen	Spleen
9	chr6:151042400-151054400	Weak transcription	Placenta	Placenta
10	chr6:151042400-151074800	Weak transcription	Fetal Intestine Small	intestine
11	chr6:151042600-151085400	Weak transcription	Esophagus	oesophagus
12	chr6:151042800-151045000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:151042800-151054800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:151043000-151046000	Weak transcription	Brain Substantia Nigra	brain
15	chr6:151043000-151052000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:151043400-151046400	Weak transcription	Fetal Brain Female	brain
17	chr6:151043600-151045200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:151043600-151045400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:151043600-151045600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:151043800-151044600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:151043800-151044600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr6:151044000-151044600	Genic enhancers	Fetal Thymus	thymus
23	chr6:151044000-151044600	Genic enhancers	Thymus	Thymus
24	chr6:151044000-151046200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:151044000-151046400	Enhancers	Primary B cells from peripheral blood	blood
26	chr6:151044200-151045000	Enhancers	Brain Hippocampus Middle	brain
27	chr6:151044200-151045000	Enhancers	Fetal Intestine Large	intestine
28	chr6:151044200-151045000	Enhancers	GM12878-XiMat	blood
29	chr6:151044200-151045200	Enhancers	Brain Angular Gyrus	brain
30	chr6:151044200-151045400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:151044200-151045400	Enhancers	Fetal Stomach	stomach
32	chr6:151044200-151045600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:151044200-151046200	Enhancers	HMEC	breast
34	chr6:151044400-151044800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:151044400-151044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:151044400-151045000	Genic enhancers	Primary B cells from cord blood	blood
37	chr6:151044400-151045000	Enhancers	Fetal Kidney	kidney
38	chr6:151044400-151045000	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:151044400-151045200	Enhancers	Brain Anterior Caudate	brain
40	chr6:151044400-151045400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:151044400-151045400	Enhancers	Fetal Lung	lung
42	chr6:151044400-151048400	Weak transcription	Aorta	Aorta
43	chr6:151044400-151055400	Weak transcription	Fetal Muscle Trunk	muscle

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