Variant report

Variant	rs6930892
Chromosome Location	chr6:4034254-4034255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:4034252-4034438	GM12878	blood:	n/a	chr6:4034308-4034322

No.	Distal block	Cell Line	Cell type
1	chr6:4019901..4021767-chr6:4032581..4035292,2	MCF-7	breast:
2	chr6:4032673..4035908-chr6:4133306..4136928,3	K562	blood:
3	chr6:4021573..4023167-chr6:4032641..4035084,2	MCF-7	breast:

Variant related genes	Relation type
PRPF4B	TF binding region
ENSG00000234817	Chromatin interaction
ENSG00000254821	Chromatin interaction
ENSG00000112739	Chromatin interaction
ENSG00000230648	Chromatin interaction
ENSG00000198721	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12174184	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408457	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1543355	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1969837	0.83[EUR][1000 genomes]
rs2181894	0.95[ASN][1000 genomes]
rs2745451	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2745452	0.81[EUR][1000 genomes]
rs3747761	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3747762	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3747763	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3761787	0.98[ASN][1000 genomes]
rs4466281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959916	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959918	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4959919	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6900476	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905475	0.83[ASN][1000 genomes]
rs6906467	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910519	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916982	0.95[ASN][1000 genomes]
rs6921738	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6933593	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6941706	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs697745	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs707980	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs707981	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs707982	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs707983	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs707984	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs707985	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs707987	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs707988	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73349780	0.84[ASN][1000 genomes]
rs7744603	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7763233	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853396	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs853397	0.93[ASN][1000 genomes]
rs853398	0.94[ASN][1000 genomes]
rs853399	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs853400	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs853402	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs853403	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853404	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853405	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853406	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853407	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853408	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853409	0.81[ASN][1000 genomes]
rs853410	0.83[ASN][1000 genomes]
rs853411	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs860477	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs860478	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9328215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328216	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9392546	0.81[EUR][1000 genomes]
rs9405217	0.81[EUR][1000 genomes]
rs9405694	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941443	0.95[ASN][1000 genomes]
rs942474	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9503893	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1034223	chr6:4030708-4060347	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4022400-4043400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:4022600-4049400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:4023000-4038600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:4023000-4063600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:4023200-4035600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:4023200-4043400	Weak transcription	Aorta	Aorta
7	chr6:4023200-4064000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:4023400-4038800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:4023400-4040600	Weak transcription	Fetal Brain Male	brain
10	chr6:4023400-4071600	Weak transcription	Stomach Mucosa	stomach
11	chr6:4023800-4037400	Weak transcription	Fetal Brain Female	brain
12	chr6:4023800-4037600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:4023800-4067000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:4024000-4035600	Weak transcription	NHLF	lung
15	chr6:4024000-4036400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:4024000-4037600	Weak transcription	HSMMtube	muscle
17	chr6:4024200-4037000	Weak transcription	Right Atrium	heart
18	chr6:4024200-4040200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:4024400-4035800	Weak transcription	Thymus	Thymus
20	chr6:4024600-4036600	Weak transcription	Spleen	Spleen
21	chr6:4024600-4040200	Weak transcription	Esophagus	oesophagus
22	chr6:4024600-4059200	Strong transcription	Fetal Thymus	thymus
23	chr6:4025200-4039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:4025400-4037600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:4027200-4038200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:4027200-4058200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:4027400-4037600	Weak transcription	Left Ventricle	heart
28	chr6:4027400-4039600	Weak transcription	Fetal Heart	heart
29	chr6:4027400-4039600	Weak transcription	Gastric	stomach
30	chr6:4027800-4040800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:4027800-4041600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:4028200-4035000	Strong transcription	NHEK	skin
33	chr6:4028200-4038800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:4028600-4039000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:4028800-4035800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:4028800-4035800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:4028800-4035800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:4028800-4036400	Weak transcription	Lung	lung
39	chr6:4028800-4037000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:4028800-4038600	Weak transcription	Ovary	ovary
41	chr6:4028800-4038600	Weak transcription	Psoas Muscle	Psoas
42	chr6:4028800-4038800	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:4028800-4039600	Weak transcription	Brain Angular Gyrus	brain
44	chr6:4028800-4042000	Weak transcription	Right Ventricle	heart
45	chr6:4029000-4039200	Weak transcription	Brain Substantia Nigra	brain
46	chr6:4029200-4040200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:4029800-4036400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:4030000-4035800	Weak transcription	Fetal Stomach	stomach
49	chr6:4030000-4040600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:4030400-4035600	Weak transcription	Fetal Intestine Small	intestine

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