Variant report

Variant	rs17325048
Chromosome Location	chr2:48436566-48436567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48436276..48438962-chr2:48439621..48441170,3	K562	blood:
2	chr2:48434273..48436933-chr2:48509087..48510604,2	K562	blood:
3	chr2:48432585..48437809-chr2:48438116..48442314,6	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10195717	0.81[CEU][hapmap]
rs10495950	1.00[EUR][1000 genomes]
rs11674475	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11676381	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11676925	0.83[EUR][1000 genomes]
rs11677205	0.80[CEU][hapmap]
rs11677590	0.81[EUR][1000 genomes]
rs11679956	0.94[EUR][1000 genomes]
rs11680162	0.99[EUR][1000 genomes]
rs11680404	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs11680657	0.93[EUR][1000 genomes]
rs11681876	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11683689	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11687461	0.83[CEU][hapmap]
rs11687670	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11687989	0.84[EUR][1000 genomes]
rs11689736	0.94[EUR][1000 genomes]
rs11689818	0.84[EUR][1000 genomes]
rs11691493	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11692660	0.81[CEU][hapmap]
rs11693267	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11695799	0.81[EUR][1000 genomes]
rs11695923	0.93[EUR][1000 genomes]
rs11889493	0.94[EUR][1000 genomes]
rs13398456	0.83[CEU][hapmap]
rs13431982	1.00[EUR][1000 genomes]
rs17324965	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17325209	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17396793	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17397094	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2014675	0.93[EUR][1000 genomes]
rs2840147	0.87[EUR][1000 genomes]
rs34135365	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4530419	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs55802119	1.00[EUR][1000 genomes]
rs56037709	0.82[EUR][1000 genomes]
rs58032869	0.87[EUR][1000 genomes]
rs58136909	0.86[EUR][1000 genomes]
rs6730166	0.95[EUR][1000 genomes]
rs6733558	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6745620	0.83[CEU][hapmap]
rs6747738	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs6759056	0.94[EUR][1000 genomes]
rs7561696	0.84[EUR][1000 genomes]
rs7571905	0.98[EUR][1000 genomes]
rs7581510	0.95[EUR][1000 genomes]
rs7583719	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs952468	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48432800-48438200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:48433000-48438200	Weak transcription	Gastric	stomach
3	chr2:48433200-48437000	Enhancers	HepG2	liver
4	chr2:48433200-48437200	Enhancers	Brain Substantia Nigra	brain
5	chr2:48433800-48437000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:48434600-48441600	Weak transcription	Psoas Muscle	Psoas
7	chr2:48434800-48437000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:48435000-48436600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:48435000-48436800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:48435400-48436800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:48435600-48436600	Enhancers	K562	blood
12	chr2:48435600-48436800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:48435600-48437000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:48435600-48437000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:48435800-48436800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:48435800-48436800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:48435800-48436800	Enhancers	Right Atrium	heart
18	chr2:48435800-48436800	Enhancers	HMEC	breast
19	chr2:48435800-48436800	Enhancers	NHLF	lung
20	chr2:48435800-48437000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:48435800-48437000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:48435800-48437000	Enhancers	Brain Anterior Caudate	brain
23	chr2:48435800-48437000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:48435800-48437000	Enhancers	HSMM	muscle
25	chr2:48435800-48437000	Enhancers	NHEK	skin
26	chr2:48435800-48437200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:48435800-48437200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:48435800-48437400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:48435800-48438000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:48435800-48438000	Enhancers	HUVEC	blood vessel
31	chr2:48435800-48438400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:48435800-48438400	Enhancers	NHDF-Ad	bronchial
33	chr2:48435800-48438400	Enhancers	Osteobl	bone
34	chr2:48435800-48439000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:48436000-48436800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:48436000-48437000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:48436000-48437000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:48436000-48437000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:48436000-48437000	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:48436000-48437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:48436000-48437200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:48436000-48437200	Enhancers	Brain Hippocampus Middle	brain
43	chr2:48436200-48436600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:48436200-48436600	Enhancers	Fetal Intestine Small	intestine
45	chr2:48436200-48436800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:48436200-48436800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:48436200-48436800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:48436200-48437000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:48436200-48437000	Enhancers	Adipose Nuclei	Adipose
50	chr2:48436200-48437000	Enhancers	Brain Angular Gyrus	brain

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