Variant report

Variant	rs73046582
Chromosome Location	chr1:186394815-186394816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186352524..186355241-chr1:186393663..186395812,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10158397	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10489392	0.80[AFR][1000 genomes]
rs1293990	1.00[ASN][1000 genomes]
rs1881444	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55865939	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56077851	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044618	1.00[AMR][1000 genomes]
rs73044674	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73046513	1.00[AMR][1000 genomes]
rs73046523	1.00[AMR][1000 genomes]
rs73046524	1.00[AMR][1000 genomes]
rs73046546	1.00[AMR][1000 genomes]
rs73048475	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
2	chr1:186362400-186405600	Weak transcription	Brain Angular Gyrus	brain
3	chr1:186362800-186405600	Weak transcription	Right Ventricle	heart
4	chr1:186365600-186395200	Weak transcription	Psoas Muscle	Psoas
5	chr1:186368600-186398200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:186372000-186398200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:186372000-186406000	Weak transcription	Pancreas	Pancrea
8	chr1:186376800-186399600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:186379200-186395200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:186380000-186398800	Weak transcription	Brain Germinal Matrix	brain
11	chr1:186388600-186399400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:186388600-186404600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:186388600-186408000	Weak transcription	Fetal Brain Female	brain
14	chr1:186388600-186411600	Weak transcription	A549	lung
15	chr1:186388600-186417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:186388800-186396400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:186388800-186397400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:186388800-186405800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:186388800-186409400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:186388800-186409400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:186389000-186413000	Weak transcription	Brain Substantia Nigra	brain
22	chr1:186389200-186406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:186389600-186396000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:186389600-186396800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:186389600-186397800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:186389600-186405200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:186389600-186406800	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:186389600-186407600	Weak transcription	Aorta	Aorta
29	chr1:186389600-186407800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:186389600-186409200	Weak transcription	HUVEC	blood vessel
31	chr1:186389600-186411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:186389600-186415600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:186389800-186409000	Weak transcription	Hela-S3	cervix
34	chr1:186389800-186411400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:186390000-186405800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr1:186390200-186395200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:186390200-186397200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:186390200-186398600	Weak transcription	Fetal Lung	lung
39	chr1:186390400-186397400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:186390400-186405400	Weak transcription	Liver	Liver
41	chr1:186390800-186397200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:186390800-186411600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:186394000-186397200	Weak transcription	Left Ventricle	heart
44	chr1:186394000-186398000	Weak transcription	Right Atrium	heart
45	chr1:186394000-186414400	Weak transcription	HSMM	muscle
46	chr1:186394400-186395200	Strong transcription	Fetal Brain Male	brain
47	chr1:186394400-186396000	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr1:186394400-186398400	Strong transcription	Brain Hippocampus Middle	brain
49	chr1:186394600-186414600	Weak transcription	Primary T cells from cord blood	blood
50	chr1:186394800-186395600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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