Variant report

Variant	rs6751871
Chromosome Location	chr2:86623017-86623018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86621403..86626884-chr2:86666803..86669988,9	MCF-7	breast:
2	chr2:86616684..86621383-chr2:86622282..86625754,5	K562	blood:
3	chr2:86620715..86623394-chr2:86849025..86850946,2	MCF-7	breast:
4	chr2:86421249..86424265-chr2:86622916..86627060,4	MCF-7	breast:
5	chr2:86619507..86623794-chr2:86667300..86670065,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249884	Chromatin interaction
ENSG00000273080	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000239305	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10180036	0.82[CHB][hapmap]
rs10451666	1.00[CEU][hapmap]
rs1105862	0.80[AFR][1000 genomes]
rs1105863	0.80[AFR][1000 genomes]
rs1105865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714186	0.82[CHB][hapmap]
rs13387570	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13425101	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1863062	1.00[CEU][hapmap]
rs2292887	0.82[CHB][hapmap]
rs3821015	1.00[CEU][hapmap]
rs56026070	0.87[ASN][1000 genomes]
rs56673455	0.87[ASN][1000 genomes]
rs6547681	0.81[AFR][1000 genomes]
rs6547685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706736	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723711	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6737677	0.89[ASN][1000 genomes]
rs6743884	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586057	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7589635	0.87[ASN][1000 genomes]
rs870374	0.82[YRI][hapmap]
rs870375	0.80[AFR][1000 genomes]
rs958561	0.82[CHB][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 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	chr2:86620800-86623400	Weak transcription	Left Ventricle	heart
2	chr2:86621000-86623400	Weak transcription	Aorta	Aorta
3	chr2:86621000-86623400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:86621400-86623200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:86621600-86623200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:86621600-86623200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:86621600-86623200	Weak transcription	Pancreas	Pancrea
8	chr2:86621600-86623200	Weak transcription	HSMM	muscle
9	chr2:86621600-86623400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:86621600-86624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:86621600-86631000	Weak transcription	Gastric	stomach
12	chr2:86621800-86625000	Weak transcription	HSMMtube	muscle
13	chr2:86622000-86623400	Weak transcription	Stomach Mucosa	stomach
14	chr2:86622000-86625200	Weak transcription	Fetal Intestine Small	intestine
15	chr2:86622400-86623400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:86622800-86623200	Weak transcription	Psoas Muscle	Psoas
17	chr2:86622800-86623400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:86622800-86623600	Enhancers	GM12878-XiMat	blood
19	chr2:86623000-86623200	Enhancers	Brain Anterior Caudate	brain
20	chr2:86623000-86623200	Enhancers	Brain Hippocampus Middle	brain
21	chr2:86623000-86623200	Enhancers	Brain Substantia Nigra	brain
22	chr2:86623000-86623600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:86623000-86623600	Enhancers	Fetal Muscle Leg	muscle

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