Variant report

Variant	rs6467178
Chromosome Location	chr7:128079745-128079746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128077598..128080477-chr7:128092228..128095663,3	K562	blood:
2	chr7:128079058..128081650-chr7:128094503..128096174,2	MCF-7	breast:
3	chr7:128073893..128075485-chr7:128078567..128080438,2	K562	blood:
4	chr7:128079136..128080661-chr7:128088834..128090838,2	K562	blood:
5	chr7:128078754..128080265-chr7:131302994..131305556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240758	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000135245	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10229016	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10229394	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10230632	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10245559	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10271590	0.85[ASN][1000 genomes]
rs1035971	0.81[AFR][1000 genomes]
rs11770116	0.80[AMR][1000 genomes]
rs11980741	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1560214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288548	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2288549	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2402895	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2562730	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562731	0.80[ASN][1000 genomes]
rs2562732	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2562734	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562737	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2562740	0.89[ASN][1000 genomes]
rs2732394	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732397	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2732432	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28479078	0.85[ASN][1000 genomes]
rs3097361	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35586323	0.84[ASN][1000 genomes]
rs3958071	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4728108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731446	0.91[AMR][1000 genomes]
rs4731448	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4731450	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4731453	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4731454	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4731455	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5009156	0.85[ASN][1000 genomes]
rs58979384	0.85[ASN][1000 genomes]
rs6947697	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6948333	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6959839	0.82[AMR][1000 genomes]
rs7797240	0.89[ASN][1000 genomes]
rs930106	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv1801356	chr7:128073366-128084133	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128073800-128083800	Weak transcription	Esophagus	oesophagus
3	chr7:128075600-128083600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
6	chr7:128076000-128084000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:128076200-128080600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:128076200-128081800	Weak transcription	HepG2	liver
9	chr7:128076400-128083400	Weak transcription	Placenta	Placenta
10	chr7:128076400-128083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:128076400-128084000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:128077000-128079800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:128078200-128079800	Enhancers	Primary B cells from cord blood	blood
14	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:128078800-128083800	Weak transcription	GM12878-XiMat	blood
16	chr7:128079400-128083600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:128079400-128085800	Weak transcription	K562	blood
18	chr7:128079600-128083600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:128079600-128083800	Weak transcription	Adipose Nuclei	Adipose
20	chr7:128079600-128084200	Weak transcription	Primary B cells from peripheral blood	blood

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