Variant report

Variant	rs2419688
Chromosome Location	chr1:168941626-168941627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168937395..168939579-chr1:168941344..168942909,2	K562	blood:
2	chr1:168875814..168878079-chr1:168940706..168942941,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1033806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322486	0.87[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104189	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104190	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146195	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2208747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2984592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984594	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3007375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007379	0.87[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168939800-168942400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:168939800-168942400	Enhancers	Ovary	ovary
3	chr1:168939800-168943000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:168940000-168942600	Enhancers	Fetal Lung	lung
5	chr1:168940200-168942000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:168940400-168942000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:168940600-168941800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:168940800-168942000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:168940800-168942000	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:168940800-168942000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:168940800-168942000	Weak transcription	Psoas Muscle	Psoas
12	chr1:168940800-168942600	Weak transcription	Right Ventricle	heart
13	chr1:168940800-168943200	Weak transcription	Aorta	Aorta
14	chr1:168941000-168942000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:168941000-168942000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:168941000-168942000	Weak transcription	Fetal Stomach	stomach
17	chr1:168941000-168942000	Weak transcription	Left Ventricle	heart
18	chr1:168941000-168942200	Weak transcription	Right Atrium	heart
19	chr1:168941000-168942400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:168941000-168945800	Weak transcription	Brain Angular Gyrus	brain
21	chr1:168941000-168946800	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:168941000-168947000	Weak transcription	Brain Anterior Caudate	brain
23	chr1:168941200-168942000	Weak transcription	Pancreas	Pancrea
24	chr1:168941200-168949200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links