Variant report

Variant	rs41726
Chromosome Location	chr7:139662586-139662587
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	chr7:139304359..139307217-chr7:139661480..139664167,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28462	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs41724	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41727	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41728	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41729	0.98[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	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv608475	chr7:139659591-139662643	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs41726	JHDM1D	cis	cerebellum	SCAN
rs41726	MRPS33	cis	parietal	SCAN
rs41726	KEL	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139651400-139670000	Weak transcription	Gastric	stomach
2	chr7:139652000-139668400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:139652200-139691600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:139652800-139668000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:139653000-139678200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr7:139653200-139672200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:139653200-139678000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:139653400-139676000	Weak transcription	Adipose Nuclei	Adipose
9	chr7:139654600-139677600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:139655000-139667800	Weak transcription	Colonic Mucosa	Colon
11	chr7:139655000-139677800	Weak transcription	Primary B cells from cord blood	blood
12	chr7:139657400-139664600	Weak transcription	Lung	lung
13	chr7:139658600-139666200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:139660200-139666600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:139660200-139669200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:139660800-139663200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr7:139661200-139668000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:139661400-139662600	Strong transcription	Spleen	Spleen
19	chr7:139661600-139662600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:139661800-139662600	Strong transcription	Fetal Thymus	thymus
21	chr7:139661800-139662600	Strong transcription	Thymus	Thymus
22	chr7:139661800-139666200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:139661800-139666600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:139661800-139670200	Weak transcription	K562	blood
25	chr7:139662400-139662600	Enhancers	Pancreas	Pancrea
26	chr7:139662400-139664600	Weak transcription	Primary T cells from cord blood	blood
27	chr7:139662400-139666600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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