Variant report

Variant	rs1861234
Chromosome Location	chr2:10362170-10362171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10359643..10362171-chr2:10579070..10581168,2	K562	blood:
2	chr2:10261461..10263883-chr2:10362075..10364211,2	MCF-7	breast:
3	chr2:10360606..10364064-chr2:10366598..10369959,4	K562	blood:

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4669555	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4669557	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6722368	0.89[CEU][hapmap]
rs6741629	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6744258	0.81[EUR][1000 genomes]
rs6748762	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7587087	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs759347	0.87[EUR][1000 genomes]
rs759348	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs887962	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv34981	chr2:10341468-10384302	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv35171	chr2:10341468-10384302	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756904	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv2759024	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv873637	chr2:10349858-10381434	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv962058	chr2:10350771-10376962	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv873638	chr2:10351852-10381434	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10349800-10362400	Weak transcription	Spleen	Spleen
2	chr2:10350400-10375200	Weak transcription	Right Atrium	heart
3	chr2:10357200-10362400	Weak transcription	K562	blood
4	chr2:10357800-10362400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:10357800-10368400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:10358600-10363800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:10359000-10362800	Enhancers	Brain Germinal Matrix	brain
8	chr2:10359600-10364600	Weak transcription	Fetal Intestine Large	intestine
9	chr2:10360400-10362200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:10360400-10362200	Enhancers	HSMM	muscle
11	chr2:10360600-10367600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:10361200-10362200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr2:10361200-10362400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr2:10361600-10362600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:10361600-10362800	Enhancers	Left Ventricle	heart
16	chr2:10361600-10363200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:10361800-10362800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:10361800-10362800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:10361800-10362800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:10361800-10363000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:10362000-10362400	Enhancers	Fetal Intestine Small	intestine
22	chr2:10362000-10369600	Weak transcription	Right Ventricle	heart

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