Variant report

Variant	rs56185219
Chromosome Location	chr1:93247658-93247659
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93242184..93247777-chr1:93248755..93252044,8	K562	blood:
2	chr1:93244037..93247777-chr1:93248755..93251898,4	K562	blood:

Variant related genes	Relation type
ENSG00000067208	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10158801	0.82[EUR][1000 genomes]
rs10159031	0.81[AMR][1000 genomes]
rs10465755	0.81[AMR][1000 genomes]
rs10465757	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12563229	1.00[ASN][1000 genomes]
rs12564537	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565227	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12565259	0.81[AMR][1000 genomes]
rs12566186	1.00[ASN][1000 genomes]
rs13374365	1.00[ASN][1000 genomes]
rs17131655	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2151575	0.81[AMR][1000 genomes]
rs2391198	1.00[ASN][1000 genomes]
rs2785608	0.89[EUR][1000 genomes]
rs28550182	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41286813	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4130290	0.89[EUR][1000 genomes]
rs4240963	0.89[EUR][1000 genomes]
rs4264009	0.89[EUR][1000 genomes]
rs4442373	0.89[EUR][1000 genomes]
rs4847388	0.89[EUR][1000 genomes]
rs501894	0.89[EUR][1000 genomes]
rs55995837	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56695578	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56764656	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59552478	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59925050	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60842823	0.89[EUR][1000 genomes]
rs60855457	0.81[AMR][1000 genomes]
rs61259042	0.89[EUR][1000 genomes]
rs61288876	0.81[AMR][1000 genomes]
rs652456	0.89[EUR][1000 genomes]
rs6669107	0.89[EUR][1000 genomes]
rs6699723	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101199	0.81[AMR][1000 genomes]
rs74101310	0.89[EUR][1000 genomes]
rs74101322	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101354	0.89[EUR][1000 genomes]
rs74101356	0.89[EUR][1000 genomes]
rs74101362	0.89[EUR][1000 genomes]
rs74101363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74102921	0.81[AMR][1000 genomes]
rs74102923	0.81[AMR][1000 genomes]
rs7535171	0.81[AMR][1000 genomes]
rs7535486	0.89[EUR][1000 genomes]
rs7548287	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969698	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
2	chr1:93214000-93248400	Weak transcription	Lung	lung
3	chr1:93222000-93248000	Weak transcription	HSMMtube	muscle
4	chr1:93222400-93248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:93222400-93248200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:93222400-93248400	Weak transcription	Placenta	Placenta
7	chr1:93225600-93248000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:93226000-93249200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:93231600-93248000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:93234400-93248000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:93234600-93248000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:93234800-93248200	Weak transcription	Primary B cells from cord blood	blood
13	chr1:93234800-93249200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:93235000-93248200	Weak transcription	NHLF	lung
15	chr1:93235600-93248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:93236200-93247800	Weak transcription	Hela-S3	cervix
17	chr1:93239600-93249400	Weak transcription	Ovary	ovary
18	chr1:93240200-93248400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:93240600-93249400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:93240600-93249400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:93240800-93248000	Weak transcription	K562	blood
22	chr1:93240800-93248400	Weak transcription	Pancreas	Pancrea
23	chr1:93240800-93248800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:93240800-93249600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:93241000-93249400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:93241000-93249400	Weak transcription	Brain Angular Gyrus	brain
27	chr1:93241200-93247800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:93241200-93248000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:93241200-93248200	Weak transcription	Brain Substantia Nigra	brain
30	chr1:93241200-93249400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:93241400-93248600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:93241600-93248600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:93242400-93248400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:93243400-93247800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:93243400-93249600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:93243600-93249200	Weak transcription	GM12878-XiMat	blood
37	chr1:93244000-93248400	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:93244200-93247800	Weak transcription	Fetal Heart	heart
39	chr1:93244200-93247800	Weak transcription	HMEC	breast
40	chr1:93244200-93248600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:93244200-93249000	Weak transcription	Aorta	Aorta
42	chr1:93244600-93248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:93244600-93248000	Weak transcription	Osteobl	bone
44	chr1:93244600-93249000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:93244600-93249400	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:93244800-93248200	Weak transcription	Stomach Mucosa	stomach
47	chr1:93244800-93249800	Weak transcription	Esophagus	oesophagus
48	chr1:93245200-93249200	Weak transcription	NH-A	brain
49	chr1:93245400-93248400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:93245600-93248000	Enhancers	Right Ventricle	heart

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