Variant report

Variant	rs17768735
Chromosome Location	chr6:13447304-13447305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13447200..13448830-chr6:13453406..13456212,2	MCF-7	breast:
2	chr6:13446993..13448620-chr6:13450498..13451999,2	K562	blood:
3	chr6:13327291..13329947-chr6:13444548..13447508,3	K562	blood:

Variant related genes	Relation type
ENSG00000145979	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1345029	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1345030	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1992385	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61657352	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62385764	0.80[ASN][1000 genomes]
rs62385768	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62385769	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62385771	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9349618	0.90[EUR][1000 genomes]
rs9395787	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17768735	C6orf114	cis	cerebellum	SCAN
rs17768735	GFOD1	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13428800-13451200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:13433000-13454000	Weak transcription	Hela-S3	cervix
3	chr6:13434400-13448000	Weak transcription	Esophagus	oesophagus
4	chr6:13438200-13448400	Weak transcription	Small Intestine	intestine
5	chr6:13438600-13462200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:13441400-13448800	Weak transcription	Stomach Mucosa	stomach
7	chr6:13441600-13451600	Weak transcription	Gastric	stomach
8	chr6:13441600-13454400	Weak transcription	Placenta	Placenta
9	chr6:13442800-13448000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:13444200-13450400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:13445200-13447400	Enhancers	Brain Anterior Caudate	brain
12	chr6:13445200-13447400	Enhancers	Fetal Heart	heart
13	chr6:13445200-13447600	Enhancers	Brain Angular Gyrus	brain
14	chr6:13445200-13447800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:13445200-13449000	Enhancers	Right Ventricle	heart
16	chr6:13445200-13450800	Enhancers	Left Ventricle	heart
17	chr6:13445200-13457800	Enhancers	Right Atrium	heart
18	chr6:13445400-13447600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:13445400-13449400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:13445400-13449600	Enhancers	Psoas Muscle	Psoas
21	chr6:13445400-13453400	Weak transcription	NH-A	brain
22	chr6:13445400-13454000	Weak transcription	Primary T cells from cord blood	blood
23	chr6:13445400-13454000	Weak transcription	Pancreas	Pancrea
24	chr6:13445600-13448000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:13445600-13448000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr6:13445600-13448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:13445600-13448200	Weak transcription	Thymus	Thymus
28	chr6:13445600-13448400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:13445600-13448600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:13445600-13448600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:13445600-13449000	Enhancers	Brain Substantia Nigra	brain
32	chr6:13445600-13449400	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:13445600-13450200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:13445600-13454200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:13445600-13454200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:13445600-13454800	Weak transcription	K562	blood
37	chr6:13445600-13461800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr6:13445800-13447400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:13445800-13447400	Weak transcription	NHEK	skin
40	chr6:13445800-13447600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:13445800-13447600	Weak transcription	Primary B cells from cord blood	blood
42	chr6:13445800-13447600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:13445800-13448000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:13445800-13448200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:13445800-13448400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:13445800-13448600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:13445800-13449200	Enhancers	Brain Hippocampus Middle	brain
48	chr6:13445800-13449400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr6:13445800-13449800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:13445800-13449800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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