Variant report

Variant	rs6933485
Chromosome Location	chr6:150940375-150940376
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	chr6:150933927..150936291-chr6:150938696..150941603,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11155745	0.92[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1492577	0.80[TSI][hapmap]
rs2029644	0.80[TSI][hapmap]
rs4870535	0.83[YRI][hapmap]
rs9478771	0.84[YRI][hapmap]
rs9480492	0.84[YRI][hapmap]
rs9480498	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv464080	chr6:150923115-150941310	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv604851	chr6:150923115-150941310	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
4	nsv886774	chr6:150931131-150983318	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6933485	C6orf103	cis	parietal	SCAN
rs6933485	NUP43	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150922400-150941400	Weak transcription	Colonic Mucosa	Colon
2	chr6:150928200-150944800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:150928400-150940600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:150928400-150952800	Weak transcription	Right Ventricle	heart
5	chr6:150928600-150948800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:150929400-150941400	Weak transcription	Fetal Stomach	stomach
7	chr6:150931000-150947400	Weak transcription	Placenta	Placenta
8	chr6:150935000-150943800	Weak transcription	Liver	Liver
9	chr6:150936600-150944600	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:150937000-150941400	Enhancers	Thymus	Thymus
11	chr6:150937600-150940400	Enhancers	Fetal Thymus	thymus
12	chr6:150937600-150941400	Enhancers	Primary B cells from cord blood	blood
13	chr6:150938000-150941000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:150938600-150941400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:150938600-150941800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr6:150938600-150942000	Enhancers	Brain Cingulate Gyrus	brain
17	chr6:150938600-150942400	Enhancers	Brain Substantia Nigra	brain
18	chr6:150938600-150943800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr6:150938800-150941400	Weak transcription	Stomach Mucosa	stomach
20	chr6:150938800-150942000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:150939000-150940400	Weak transcription	Brain Anterior Caudate	brain
22	chr6:150939000-150944600	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:150939000-150945200	Enhancers	Adipose Nuclei	Adipose
24	chr6:150939000-150949600	Weak transcription	Pancreas	Pancrea
25	chr6:150939000-150954200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:150939200-150940800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:150939200-150941400	Weak transcription	Fetal Intestine Small	intestine
28	chr6:150939200-150941400	Weak transcription	Gastric	stomach
29	chr6:150939200-150942400	Enhancers	HUVEC	blood vessel
30	chr6:150939200-150944600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:150939600-150940400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:150939600-150940400	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:150939600-150940600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:150939600-150940600	Weak transcription	Fetal Kidney	kidney
35	chr6:150939600-150940800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:150939600-150940800	Weak transcription	Small Intestine	intestine
37	chr6:150939600-150941800	Enhancers	Brain Angular Gyrus	brain
38	chr6:150939800-150940400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:150939800-150940600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:150939800-150948600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:150940000-150940600	Enhancers	Left Ventricle	heart
42	chr6:150940200-150940600	Enhancers	Lung	lung
43	chr6:150940200-150940800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr6:150940200-150941200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:150940200-150942000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:150940200-150942000	Enhancers	Fetal Lung	lung
47	chr6:150940200-150942000	Enhancers	Right Atrium	heart
48	chr6:150940200-150942400	Enhancers	Spleen	Spleen
49	chr6:150940200-150944600	Enhancers	Duodenum Mucosa	Duodenum

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