Variant report

Variant	rs9377218
Chromosome Location	chr6:149750439-149750440
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149380842..149383187-chr6:149749461..149751628,2	MCF-7	breast:
2	chr6:149745176..149748304-chr6:149748732..149751749,4	MCF-7	breast:
3	chr6:149749225..149751406-chr6:149752259..149754784,2	K562	blood:
4	chr6:149381576..149384224-chr6:149749932..149753109,3	MCF-7	breast:
5	chr6:149748841..149750725-chr6:149751621..149753759,2	K562	blood:
6	chr6:149749032..149751401-chr6:149754918..149757804,2	K562	blood:
7	chr6:149398184..149404330-chr6:149748783..149757211,17	MCF-7	breast:
8	chr6:149638278..149640828-chr6:149750311..149753449,4	MCF-7	breast:
9	chr6:149352319..149353862-chr6:149749427..149751302,2	MCF-7	breast:
10	chr6:149744819..149747181-chr6:149748180..149751163,2	MCF-7	breast:
11	chr6:149394698..149396657-chr6:149749436..149751094,2	MCF-7	breast:
12	chr6:149748430..149751387-chr6:149751741..149754089,3	MCF-7	breast:
13	chr6:149742080..149743974-chr6:149748766..149751309,2	MCF-7	breast:
14	chr6:149638351..149641682-chr6:149748296..149751639,3	MCF-7	breast:
15	chr6:149407753..149410844-chr6:149747576..149751159,3	MCF-7	breast:
16	chr6:149351119..149355583-chr6:149748923..149756337,13	MCF-7	breast:
17	chr6:149703892..149707802-chr6:149748749..149751962,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236591	Chromatin interaction
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1001242	0.95[EUR][1000 genomes]
rs1074495	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1339185	0.88[EUR][1000 genomes]
rs17086451	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1934117	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs2007062	0.88[EUR][1000 genomes]
rs2143076	0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2153219	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2341783	0.91[JPT][hapmap]
rs2341784	0.91[JPT][hapmap]
rs2744427	0.92[JPT][hapmap]
rs2744431	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2744433	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2744434	0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs2789487	0.82[AMR][1000 genomes]
rs2789488	0.82[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2789489	0.82[AMR][1000 genomes]
rs2789490	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2789492	0.92[ASN][1000 genomes]
rs2789493	0.99[EUR][1000 genomes]
rs2789495	0.99[EUR][1000 genomes]
rs2789496	0.95[EUR][1000 genomes]
rs2789498	0.95[EUR][1000 genomes]
rs2789500	0.92[JPT][hapmap]
rs2789501	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs3734296	0.91[JPT][hapmap]
rs3765290	0.94[EUR][1000 genomes]
rs4360154	0.82[AMR][1000 genomes]
rs472810	0.86[JPT][hapmap]
rs474369	0.91[JPT][hapmap]
rs475681	0.92[EUR][1000 genomes]
rs478767	0.92[JPT][hapmap]
rs480526	0.91[JPT][hapmap]
rs480778	0.82[AMR][1000 genomes]
rs4895788	0.92[ASN][1000 genomes]
rs4897117	0.82[AMR][1000 genomes]
rs492956	0.91[JPT][hapmap]
rs494340	0.86[JPT][hapmap]
rs501926	0.92[JPT][hapmap]
rs504762	0.87[JPT][hapmap]
rs504985	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs506268	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs511105	0.91[JPT][hapmap]
rs512685	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs513923	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs514839	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs515133	0.87[JPT][hapmap]
rs521845	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs527971	0.85[JPT][hapmap]
rs532250	0.87[JPT][hapmap]
rs536203	0.87[CHB][hapmap];0.96[JPT][hapmap]
rs537354	0.87[CHB][hapmap];0.96[JPT][hapmap]
rs538386	0.92[JPT][hapmap]
rs540538	0.87[CHB][hapmap];0.96[JPT][hapmap]
rs556335	0.91[JPT][hapmap]
rs556775	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs559052	0.91[JPT][hapmap]
rs560051	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs562428	0.87[CHB][hapmap];0.96[JPT][hapmap]
rs565825	0.91[JPT][hapmap]
rs570442	0.87[JPT][hapmap]
rs577001	0.86[CHB][hapmap];0.96[JPT][hapmap]
rs579789	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs587155	0.95[EUR][1000 genomes]
rs588028	0.84[JPT][hapmap];0.82[AMR][1000 genomes]
rs60006373	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs600739	0.86[JPT][hapmap]
rs62441728	0.88[EUR][1000 genomes]
rs626755	0.90[CEU][hapmap]
rs630642	0.80[AMR][1000 genomes]
rs632360	0.99[EUR][1000 genomes]
rs634440	0.99[EUR][1000 genomes]
rs638407	0.87[CHB][hapmap];0.96[JPT][hapmap];0.92[ASN][1000 genomes]
rs641068	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs652514	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs652807	0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs652921	0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs656461	0.89[EUR][1000 genomes]
rs6570965	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs663625	0.91[JPT][hapmap]
rs664951	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs674919	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs760897	0.82[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs805027	0.83[EUR][1000 genomes]
rs909793	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9285519	0.87[CHB][hapmap];0.96[JPT][hapmap]
rs9322178	0.87[CHB][hapmap];0.96[JPT][hapmap]
rs9373589	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs9373592	0.88[ASN][1000 genomes]
rs9377216	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9377217	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9390676	0.91[JPT][hapmap]
rs9390677	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs9399686	0.82[AMR][1000 genomes]
rs9404034	0.91[JPT][hapmap]
rs9404037	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522875	chr6:149643709-149762537	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv517606	chr6:149744632-149755695	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149745600-149752800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:149745600-149752800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:149745600-149752800	Weak transcription	HSMM	muscle
4	chr6:149745600-149753000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:149745600-149753000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:149745600-149753000	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:149746800-149753000	Weak transcription	Placenta	Placenta
8	chr6:149746800-149762000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:149748800-149753200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:149749400-149753400	Weak transcription	HSMMtube	muscle
11	chr6:149749800-149764400	Weak transcription	Right Atrium	heart
12	chr6:149750200-149750600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:149750200-149750800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:149750400-149750800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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