Variant report

Variant	rs2240468
Chromosome Location	chr7:87811144-87811145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87810642..87813036-chr7:87861095..87863196,2	K562	blood:

Variant related genes	Relation type
ENSG00000228113	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10238607	0.82[CHB][hapmap]
rs11975602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12666405	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs12668809	0.88[ASN][1000 genomes]
rs12669633	0.88[ASN][1000 genomes]
rs12670387	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17150196	0.88[ASN][1000 genomes]
rs17150234	0.88[ASN][1000 genomes]
rs17150244	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2022161	1.00[JPT][hapmap]
rs2022162	0.82[JPT][hapmap]
rs2237538	1.00[YRI][hapmap]
rs2282945	1.00[YRI][hapmap]
rs3810881	1.00[JPT][hapmap]
rs4728723	1.00[YRI][hapmap]
rs4728724	1.00[YRI][hapmap]
rs4728728	0.86[JPT][hapmap]
rs4728730	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv532148	chr7:87760675-88149417	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87776200-87831600	Weak transcription	Left Ventricle	heart
2	chr7:87787400-87813600	Weak transcription	GM12878-XiMat	blood
3	chr7:87796800-87830200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:87799200-87815200	Weak transcription	Brain Anterior Caudate	brain
5	chr7:87799200-87815200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:87801000-87832200	Weak transcription	Fetal Lung	lung
7	chr7:87806400-87815200	Weak transcription	Dnd41	blood
8	chr7:87808200-87815200	Weak transcription	Brain Substantia Nigra	brain
9	chr7:87808400-87813600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:87808400-87814200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:87808400-87815000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:87808800-87814200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:87808800-87815200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:87809600-87811200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:87809600-87814000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:87809600-87826600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:87809800-87826600	Weak transcription	Primary T cells from cord blood	blood
18	chr7:87809800-87830200	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:87810200-87813400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:87810800-87814200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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