Variant report

Variant	rs4869693
Chromosome Location	chr6:151056185-151056186
allele	C/T
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	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17080212	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17080238	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1968998	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1968999	0.86[AMR][1000 genomes]
rs2279628	0.86[AMR][1000 genomes]
rs3734411	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4869689	0.84[AMR][1000 genomes]
rs4869692	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72570328	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72570331	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72570332	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72570334	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72570348	0.82[EUR][1000 genomes]
rs72570349	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72570350	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72570374	0.82[EUR][1000 genomes]
rs7748886	0.86[AMR][1000 genomes]
rs7772795	0.84[AMR][1000 genomes]
rs9478790	0.86[AMR][1000 genomes]
rs9478791	0.88[AMR][1000 genomes];0.81[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151035000-151066400	Weak transcription	Right Ventricle	heart
2	chr6:151039000-151058800	Weak transcription	Gastric	stomach
3	chr6:151042400-151074800	Weak transcription	Fetal Intestine Small	intestine
4	chr6:151042600-151085400	Weak transcription	Esophagus	oesophagus
5	chr6:151045200-151061000	Weak transcription	Brain Anterior Caudate	brain
6	chr6:151045400-151059400	Weak transcription	Fetal Lung	lung
7	chr6:151046800-151061200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:151047000-151061000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:151049000-151059400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:151049200-151060400	Weak transcription	Brain Substantia Nigra	brain
11	chr6:151050600-151058400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:151052600-151056600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:151053200-151058200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:151053600-151056400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:151053600-151058200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:151053600-151060000	Strong transcription	Fetal Thymus	thymus
17	chr6:151053800-151056200	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:151053800-151056400	Weak transcription	Fetal Heart	heart
19	chr6:151054400-151056200	Strong transcription	Placenta	Placenta
20	chr6:151054800-151056800	Strong transcription	Liver	Liver
21	chr6:151054800-151059800	Strong transcription	Primary B cells from cord blood	blood
22	chr6:151055000-151061200	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:151055200-151057600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:151055200-151061000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:151055200-151061200	Weak transcription	Left Ventricle	heart
26	chr6:151055200-151062800	Weak transcription	GM12878-XiMat	blood
27	chr6:151055200-151067000	Weak transcription	Ovary	ovary
28	chr6:151055400-151057200	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:151055400-151066400	Weak transcription	Lung	lung
30	chr6:151055600-151056400	Weak transcription	Adipose Nuclei	Adipose
31	chr6:151055600-151057200	Weak transcription	Colonic Mucosa	Colon
32	chr6:151055600-151059400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:151055600-151060000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:151055600-151060600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:151055600-151060800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:151055600-151066400	Weak transcription	Spleen	Spleen
37	chr6:151055600-151067200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:151055600-151074800	Weak transcription	Fetal Intestine Large	intestine
39	chr6:151055800-151057200	Weak transcription	Thymus	Thymus
40	chr6:151055800-151057400	Weak transcription	Primary T cells from cord blood	blood
41	chr6:151055800-151057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:151055800-151057800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr6:151055800-151059000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:151055800-151059200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:151055800-151060200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:151055800-151062800	Weak transcription	Fetal Kidney	kidney
47	chr6:151055800-151070200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:151055800-151074400	Weak transcription	Fetal Stomach	stomach
49	chr6:151055800-151074800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:151056000-151059600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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