Variant report

Variant	rs7582249
Chromosome Location	chr2:97463529-97463530
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	chr2:97461076..97463562-chr2:97480620..97483361,2	K562	blood:

Variant related genes	Relation type
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10189727	0.95[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs11682994	1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs1318597	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2678385	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4907251	0.82[JPT][hapmap]
rs6576983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576984	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6727384	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.88[LWK][hapmap];0.89[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6730773	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6741561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68026712	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72941253	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7586317	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7608661	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs878919	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs968470	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9789421	0.80[ASN][1000 genomes]
rs994430	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7582249	ANKRD36B	cis	cerebellum	SCAN
rs7582249	EIF5B	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97433000-97466800	Weak transcription	Fetal Brain Male	brain
2	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:97442800-97466600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:97449400-97464800	Weak transcription	GM12878-XiMat	blood
5	chr2:97453000-97463800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:97454400-97466400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:97454600-97463600	Weak transcription	Small Intestine	intestine
8	chr2:97454600-97463800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:97454600-97464800	Weak transcription	NHLF	lung
10	chr2:97454600-97467000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:97454600-97481000	Weak transcription	NHEK	skin
13	chr2:97454800-97466400	Weak transcription	HSMM	muscle
14	chr2:97454800-97466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:97454800-97467600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:97454800-97477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:97455000-97466600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:97455200-97464400	Weak transcription	Brain Substantia Nigra	brain
19	chr2:97455200-97477600	Weak transcription	HSMMtube	muscle
20	chr2:97455400-97466400	Weak transcription	Stomach Mucosa	stomach
21	chr2:97455400-97477200	Weak transcription	Psoas Muscle	Psoas
22	chr2:97455400-97480600	Weak transcription	Hela-S3	cervix
23	chr2:97458800-97467200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:97458800-97467800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:97459000-97464600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:97459000-97465600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:97459400-97466400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:97459800-97466200	Weak transcription	HepG2	liver
29	chr2:97459800-97466600	Weak transcription	Fetal Lung	lung
30	chr2:97460000-97465600	Weak transcription	Fetal Thymus	thymus
31	chr2:97460600-97471200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:97461400-97463600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:97461600-97463800	Weak transcription	Dnd41	blood
34	chr2:97461800-97463800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:97461800-97464800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:97462000-97463800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:97462200-97465000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:97462200-97465400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:97462200-97467200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:97462600-97463600	Strong transcription	Rectal Smooth Muscle	rectum
42	chr2:97462600-97465000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:97462600-97465000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:97462600-97465400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:97462600-97465800	Strong transcription	Primary T cells from cord blood	blood
46	chr2:97462600-97465800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:97462600-97465800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr2:97462600-97466000	Strong transcription	Brain Anterior Caudate	brain
49	chr2:97462600-97466200	Strong transcription	Fetal Intestine Small	intestine
50	chr2:97462600-97466200	Strong transcription	Fetal Muscle Trunk	muscle

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