Variant report

Variant	rs6698504
Chromosome Location	chr1:184416538-184416539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184416154..184418161-chr1:184421571..184424535,3	MCF-7	breast:
2	chr1:184409895..184411930-chr1:184415037..184417924,2	MCF-7	breast:
3	chr1:184408982..184410504-chr1:184414765..184417443,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489723	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16823065	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs16823118	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs16823145	1.00[ASW][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16823340	0.85[TSI][hapmap]
rs16823344	0.85[TSI][hapmap]
rs17255321	0.88[MEX][hapmap]
rs2207521	0.88[MEX][hapmap]
rs2207524	1.00[JPT][hapmap]
rs2378842	1.00[JPT][hapmap]
rs57336256	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6424951	0.83[ASN][1000 genomes]
rs6695258	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73063508	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73063512	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73063527	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7525041	1.00[JPT][hapmap]
rs7540074	0.88[CHD][hapmap];1.00[JPT][hapmap]

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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:184396200-184418800	Weak transcription	NHEK	skin
3	chr1:184396200-184419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
5	chr1:184398800-184418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:184402600-184417400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:184403000-184423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:184406000-184422200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:184407800-184419000	Weak transcription	Right Ventricle	heart
10	chr1:184408600-184421200	Weak transcription	Stomach Mucosa	stomach
11	chr1:184410600-184422000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:184413000-184420800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:184413000-184426600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
16	chr1:184413200-184417400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:184413200-184418800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:184413200-184419000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:184413200-184419200	Weak transcription	Left Ventricle	heart
20	chr1:184413200-184419200	Weak transcription	Right Atrium	heart
21	chr1:184413200-184422000	Weak transcription	Fetal Stomach	stomach
22	chr1:184413200-184424800	Weak transcription	Fetal Heart	heart
23	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:184413800-184417600	Weak transcription	Psoas Muscle	Psoas
25	chr1:184414400-184418800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:184414400-184419000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:184415400-184419200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:184416000-184417800	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links