Variant report

Variant	rs3734878
Chromosome Location	chr6:13288850-13288851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13287477..13291631-chr6:13573758..13576939,3	K562	blood:
2	chr6:13272685..13275870-chr6:13286064..13289898,4	K562	blood:
3	chr6:13287888..13289538-chr6:13307383..13309880,2	K562	blood:

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000112137	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1223397	0.92[CEU][hapmap];0.91[MEX][hapmap];0.80[EUR][1000 genomes]
rs1223399	0.84[EUR][1000 genomes]
rs1223400	0.82[EUR][1000 genomes]
rs1223401	0.84[EUR][1000 genomes]
rs1223402	0.84[EUR][1000 genomes]
rs1223403	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1232392	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13191897	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13205692	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17700321	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17767967	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs202029	0.82[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs202032	0.82[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2048552	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs20499	1.00[CEU][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs20500	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs34505804	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35511719	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35549743	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs364493	0.93[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs3817737	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3817738	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3817741	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3817742	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs453877	0.91[CHB][hapmap]
rs71530382	0.87[ASN][1000 genomes]
rs9381884	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9395602	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][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	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	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13270200-13291600	Weak transcription	HSMM	muscle
2	chr6:13273800-13291400	Weak transcription	Psoas Muscle	Psoas
3	chr6:13274400-13289200	Weak transcription	HSMMtube	muscle
4	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
5	chr6:13274800-13292800	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:13275600-13291600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:13280000-13289000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:13280000-13292600	Weak transcription	NHLF	lung
9	chr6:13280200-13292400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:13282800-13289400	Strong transcription	Right Ventricle	heart
11	chr6:13282800-13291600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:13283600-13289600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:13284000-13293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:13284000-13294200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:13285000-13289600	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr6:13285400-13302400	Weak transcription	HUVEC	blood vessel
17	chr6:13285800-13289800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:13285800-13293000	Weak transcription	Brain Angular Gyrus	brain
19	chr6:13285800-13293000	Weak transcription	Brain Substantia Nigra	brain
20	chr6:13286400-13289000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:13286600-13289000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr6:13286600-13291600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:13286600-13292800	Weak transcription	Colonic Mucosa	Colon
24	chr6:13286800-13289400	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr6:13287000-13289200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr6:13287000-13289600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
27	chr6:13287000-13289800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:13287000-13289800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr6:13287000-13289800	Strong transcription	Gastric	stomach
30	chr6:13287000-13289800	ZNF genes & repeats	Thymus	Thymus
31	chr6:13287000-13303600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:13287200-13290000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:13287200-13292000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:13287200-13292800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:13287400-13294400	Weak transcription	Fetal Kidney	kidney
36	chr6:13287800-13289000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
37	chr6:13287800-13291800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:13287800-13294200	Weak transcription	A549	lung
39	chr6:13287800-13295200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr6:13287800-13298200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr6:13288000-13289200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:13288000-13289400	Weak transcription	NHDF-Ad	bronchial
43	chr6:13288000-13289600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:13288000-13290600	Strong transcription	Left Ventricle	heart
45	chr6:13288000-13292200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:13288000-13294600	Weak transcription	Fetal Brain Male	brain
47	chr6:13288000-13296200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr6:13288200-13289000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:13288200-13289200	Weak transcription	Adipose Nuclei	Adipose
50	chr6:13288200-13289600	Strong transcription	Spleen	Spleen

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