Variant report

Variant	rs6479463
Chromosome Location	chr9:95949367-95949368
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95947943..95949965-chr9:95968515..95970941,2	K562	blood:
2	chr9:95943032..95944544-chr9:95948872..95951081,2	MCF-7	breast:
3	chr9:95895042..95899051-chr9:95945154..95949540,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131669	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10512222	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10739944	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4743900	0.98[ASN][1000 genomes]
rs4744189	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6479466	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv824983	chr9:95902154-95978408	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv614880	chr9:95930572-95978265	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95945800-95949600	Active TSS	Brain Cingulate Gyrus	brain
2	chr9:95946200-95949400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:95946200-95949800	Active TSS	Left Ventricle	heart
4	chr9:95946800-95949800	Active TSS	Right Atrium	heart
5	chr9:95947000-95949600	Weak transcription	Fetal Kidney	kidney
6	chr9:95947400-95950400	Enhancers	Gastric	stomach
7	chr9:95947600-95950000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr9:95947600-95950200	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr9:95947600-95950200	Flanking Active TSS	Pancreas	Pancrea
10	chr9:95947600-95950400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr9:95947800-95949600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:95947800-95949800	Flanking Active TSS	HepG2	liver
13	chr9:95947800-95950000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr9:95947800-95950000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr9:95947800-95950400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:95947800-95950400	Flanking Active TSS	Fetal Brain Female	brain
17	chr9:95947800-95950600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr9:95947800-95951800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr9:95948000-95949800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:95948000-95949800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:95948000-95950000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr9:95948200-95949400	Enhancers	Spleen	Spleen
23	chr9:95948200-95950000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:95948200-95950000	Flanking Active TSS	Fetal Heart	heart
25	chr9:95948200-95958400	Weak transcription	Lung	lung
26	chr9:95948400-95949600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr9:95948400-95949600	Bivalent Enhancer	Placenta	Placenta
28	chr9:95948400-95950000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr9:95948400-95955200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:95948600-95949600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:95948600-95950200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:95948600-95950400	Enhancers	Fetal Intestine Large	intestine
33	chr9:95948600-95950600	Genic enhancers	Fetal Intestine Small	intestine
34	chr9:95948600-95951200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr9:95948800-95949400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:95948800-95949400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr9:95948800-95949600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:95948800-95950000	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr9:95948800-95951000	Bivalent Enhancer	Fetal Stomach	stomach
40	chr9:95948800-95953000	Enhancers	Right Ventricle	heart
41	chr9:95948800-95955000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:95948800-95955800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr9:95949000-95949600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr9:95949000-95949800	Flanking Active TSS	Fetal Brain Male	brain
45	chr9:95949000-95950000	Active TSS	Brain Angular Gyrus	brain
46	chr9:95949000-95950000	Flanking Active TSS	Colonic Mucosa	Colon
47	chr9:95949000-95950200	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr9:95949200-95949400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:95949200-95949400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr9:95949200-95949400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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