Variant report

Variant	rs942373
Chromosome Location	chr6:35152988-35152989
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35127079..35138793-chr6:35145525..35157743,32	MCF-7	breast:
2	chr6:35150577..35155004-chr6:35155292..35158233,5	MCF-7	breast:
3	chr6:35113948..35118974-chr6:35150125..35153891,4	MCF-7	breast:
4	chr6:35152047..35154652-chr6:35168732..35171108,2	MCF-7	breast:
5	chr6:35151150..35153092-chr6:35452515..35454957,2	MCF-7	breast:
6	chr6:35144082..35146423-chr6:35150116..35152992,2	K562	blood:
7	chr6:35148681..35155694-chr6:35156262..35164857,12	MCF-7	breast:
8	chr6:35146861..35148927-chr6:35151720..35154561,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124678	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12189669	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3800403	0.83[EUR][1000 genomes]
rs3800405	0.90[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap]
rs6457804	0.90[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs6457806	0.82[CEU][hapmap];0.89[CHB][hapmap]
rs6914081	0.94[CHB][hapmap]
rs6939132	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs9366881	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366882	0.81[YRI][hapmap]
rs9394277	0.90[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap]
rs9394287	0.82[CEU][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap]
rs942374	0.83[EUR][1000 genomes]
rs942375	0.84[EUR][1000 genomes]
rs965272	0.84[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3428128	chr6:35150524-35225843	Bivalent Enhancer Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs942373	TULP1	cis	parietal	SCAN
rs942373	C6orf106	cis	cerebellum	SCAN
rs942373	TAF11	cis	parietal	SCAN
rs942373	GLO1	cis	cerebellum	SCAN
rs942373	FKBP5	cis	lymphoblastoid	seeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35146800-35154400	Enhancers	Fetal Heart	heart
2	chr6:35149800-35154200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:35149800-35154400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:35149800-35158000	Weak transcription	Aorta	Aorta
5	chr6:35150000-35153000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:35150000-35153000	Weak transcription	HSMM	muscle
7	chr6:35150000-35153400	Weak transcription	Spleen	Spleen
8	chr6:35150200-35153000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:35150200-35153400	Weak transcription	Right Atrium	heart
10	chr6:35150200-35154000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:35150200-35154200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:35150200-35156600	Weak transcription	Esophagus	oesophagus
13	chr6:35150400-35153200	Weak transcription	Right Ventricle	heart
14	chr6:35150600-35154200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:35150800-35154000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:35151000-35153600	Enhancers	K562	blood
17	chr6:35151000-35154200	Enhancers	Osteobl	bone
18	chr6:35151200-35154200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:35151400-35154000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:35151800-35154000	Enhancers	HepG2	liver
21	chr6:35151800-35159600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:35152000-35153200	Enhancers	NHEK	skin
23	chr6:35152000-35154000	Enhancers	Left Ventricle	heart
24	chr6:35152200-35154200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:35152200-35154400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:35152400-35153200	Flanking Active TSS	A549	lung
27	chr6:35152400-35153800	Enhancers	Liver	Liver
28	chr6:35152400-35154000	Enhancers	Fetal Intestine Large	intestine
29	chr6:35152400-35154000	Enhancers	Lung	lung
30	chr6:35152400-35154200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:35152400-35154200	Enhancers	NH-A	brain
32	chr6:35152400-35154200	Enhancers	NHDF-Ad	bronchial
33	chr6:35152600-35153200	Weak transcription	HMEC	breast
34	chr6:35152600-35153600	Flanking Active TSS	Hela-S3	cervix
35	chr6:35152600-35154000	Enhancers	Stomach Mucosa	stomach
36	chr6:35152600-35154000	Enhancers	NHLF	lung
37	chr6:35152600-35154200	Enhancers	Fetal Intestine Small	intestine
38	chr6:35152800-35153200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:35152800-35154000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:35152800-35154200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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