Variant report

Variant	rs1927342
Chromosome Location	chr13:111054111-111054112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111037314..111040155-chr13:111051722..111054664,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12853693	0.82[EUR][1000 genomes]
rs1927349	0.86[AFR][1000 genomes]
rs34992019	0.82[EUR][1000 genomes]
rs4283091	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318742	0.84[AMR][1000 genomes]
rs7328731	0.82[EUR][1000 genomes]
rs7991842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111041400-111058000	Weak transcription	Fetal Intestine Large	intestine
3	chr13:111043000-111057000	Weak transcription	NHEK	skin
4	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:111043000-111060000	Weak transcription	A549	lung
6	chr13:111045200-111056800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:111045600-111054200	Weak transcription	Spleen	Spleen
8	chr13:111045600-111054600	Weak transcription	HUVEC	blood vessel
9	chr13:111045600-111058200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:111045600-111059400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:111049000-111059600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr13:111049200-111054800	Weak transcription	Fetal Intestine Small	intestine
13	chr13:111049600-111054800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:111050200-111054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:111050200-111054200	Enhancers	Osteobl	bone
16	chr13:111050200-111054400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr13:111050200-111054800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:111050200-111054800	Weak transcription	Right Atrium	heart
19	chr13:111050200-111055000	Weak transcription	Lung	lung
20	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
22	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:111050400-111054200	Enhancers	Colon Smooth Muscle	Colon
24	chr13:111050400-111055000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:111050400-111055200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:111050400-111056200	Enhancers	HSMM	muscle
27	chr13:111050400-111057200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:111050400-111060400	Enhancers	HSMMtube	muscle
29	chr13:111050800-111055000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:111050800-111059600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr13:111051000-111054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:111051000-111054200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:111051000-111054800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr13:111051400-111059400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:111051600-111054200	Weak transcription	Left Ventricle	heart
36	chr13:111051600-111055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:111051600-111055400	Weak transcription	HMEC	breast
38	chr13:111051600-111060000	Weak transcription	Gastric	stomach
39	chr13:111051800-111059600	Weak transcription	Aorta	Aorta
40	chr13:111052000-111059600	Weak transcription	Brain Hippocampus Middle	brain
41	chr13:111052200-111054200	Weak transcription	Fetal Muscle Leg	muscle
42	chr13:111052200-111054800	Weak transcription	Placenta	Placenta
43	chr13:111052200-111054800	Weak transcription	Ovary	ovary
44	chr13:111052200-111054800	Weak transcription	Right Ventricle	heart
45	chr13:111052200-111055200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:111052200-111057800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:111052200-111058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr13:111052200-111059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
50	chr13:111052400-111055000	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links