Variant report

Variant	rs1344591
Chromosome Location	chr2:173770886-173770887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLX2-12	chr2:173770689-173771798	refGeneNc_3635_NR_033882

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13030842	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991173	0.85[CEU][hapmap]
rs2553009	0.83[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2553011	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553013	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2676501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2676502	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2676517	0.81[ASW][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173764400-173771200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173764400-173792600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:173764800-173776000	Weak transcription	Spleen	Spleen
4	chr2:173767000-173776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:173769200-173771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:173769200-173792400	Weak transcription	Fetal Kidney	kidney
7	chr2:173769800-173771000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:173769800-173771000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:173769800-173771600	Enhancers	Fetal Heart	heart
10	chr2:173770000-173771000	Weak transcription	Lung	lung
11	chr2:173770000-173771000	Weak transcription	Right Atrium	heart
12	chr2:173770000-173771200	Weak transcription	Fetal Thymus	thymus
13	chr2:173770400-173771400	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:173770400-173771600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:173770400-173771600	Enhancers	Colon Smooth Muscle	Colon
16	chr2:173770600-173771400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:173770600-173771600	Enhancers	Adipose Nuclei	Adipose
18	chr2:173770600-173771800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:173770600-173771800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:173770800-173771400	Enhancers	Brain Angular Gyrus	brain
21	chr2:173770800-173771600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:173770800-173771800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:173770800-173772000	Enhancers	Left Ventricle	heart

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