Variant report

Variant	rs4773175
Chromosome Location	chr13:111046572-111046573
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3934267	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3448379	chr13:111045451-111048449	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4773175	STOML3	trans	lymphoblastoid	seeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111040600-111047600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr13:111040800-111048000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:111040800-111049600	Enhancers	NHDF-Ad	bronchial
4	chr13:111040800-111050800	Weak transcription	Psoas Muscle	Psoas
5	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:111041200-111048000	Enhancers	Aorta	Aorta
7	chr13:111041400-111048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:111041400-111048600	Weak transcription	Esophagus	oesophagus
9	chr13:111041400-111058000	Weak transcription	Fetal Intestine Large	intestine
10	chr13:111041600-111047400	Weak transcription	Colonic Mucosa	Colon
11	chr13:111041800-111048600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr13:111042200-111046600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:111042200-111048800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:111043000-111048800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:111043000-111049600	Weak transcription	Right Ventricle	heart
16	chr13:111043000-111057000	Weak transcription	NHEK	skin
17	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:111043000-111060000	Weak transcription	A549	lung
19	chr13:111043600-111046600	Enhancers	Fetal Muscle Leg	muscle
20	chr13:111044000-111048400	Weak transcription	HMEC	breast
21	chr13:111044000-111051000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:111044200-111049400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:111044400-111048800	Weak transcription	Fetal Intestine Small	intestine
24	chr13:111044800-111049600	Enhancers	Adipose Nuclei	Adipose
25	chr13:111045000-111046600	Weak transcription	Ovary	ovary
26	chr13:111045000-111046800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:111045000-111046800	Weak transcription	Lung	lung
28	chr13:111045000-111049600	Enhancers	NHLF	lung
29	chr13:111045200-111046600	Weak transcription	Right Atrium	heart
30	chr13:111045200-111046800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr13:111045200-111047200	Enhancers	NH-A	brain
32	chr13:111045200-111048400	Weak transcription	Fetal Heart	heart
33	chr13:111045200-111056800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:111045400-111046600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:111045400-111046800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:111045400-111046800	Weak transcription	Colon Smooth Muscle	Colon
37	chr13:111045400-111046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr13:111045400-111047400	Weak transcription	Fetal Lung	lung
39	chr13:111045400-111048200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:111045400-111048600	Enhancers	Osteobl	bone
41	chr13:111045400-111048800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr13:111045600-111046600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:111045600-111046600	Weak transcription	HSMM	muscle
44	chr13:111045600-111046800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:111045600-111046800	Weak transcription	Placenta	Placenta
46	chr13:111045600-111046800	Weak transcription	Fetal Stomach	stomach
47	chr13:111045600-111046800	Weak transcription	Left Ventricle	heart
48	chr13:111045600-111046800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:111045600-111046800	Weak transcription	HSMMtube	muscle
50	chr13:111045600-111048600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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