Variant report

Variant	rs1545552
Chromosome Location	chr2:33360338-33360339
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	chr2:33355814..33359074-chr2:33359730..33364790,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1000951	1.00[CHB][hapmap]
rs1028598	1.00[CHB][hapmap]
rs10490450	1.00[CHB][hapmap]
rs11124308	1.00[CHB][hapmap]
rs11685178	1.00[CHB][hapmap]
rs13417287	1.00[CHB][hapmap]
rs1563183	1.00[JPT][hapmap]
rs17396766	1.00[CHB][hapmap]
rs17396814	1.00[CHB][hapmap]
rs17397149	1.00[CHB][hapmap]
rs17397310	1.00[CHB][hapmap]
rs17397603	1.00[CHB][hapmap]
rs2123917	1.00[CHB][hapmap]
rs218211	1.00[CHB][hapmap]
rs218213	1.00[CHB][hapmap]
rs218214	1.00[CHB][hapmap]
rs218215	1.00[CHB][hapmap]
rs218225	1.00[CHB][hapmap]
rs219082	1.00[CHB][hapmap]
rs219208	1.00[CHB][hapmap]
rs4670893	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714546	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714901	1.00[CHB][hapmap]
rs6723744	1.00[CHB][hapmap]
rs6751782	1.00[CHB][hapmap]
rs6758871	1.00[CHB][hapmap]
rs7594155	1.00[CHB][hapmap]
rs897090	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9678317	1.00[CHB][hapmap]
rs9678351	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Height	23563607	GWAS catalog

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33358400-33360600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:33358400-33361200	Active TSS	Brain Cingulate Gyrus	brain
3	chr2:33358600-33360400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:33358600-33361200	Active TSS	Brain Anterior Caudate	brain
5	chr2:33358600-33362000	Active TSS	Brain Angular Gyrus	brain
6	chr2:33358600-33362600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:33358800-33361200	Weak transcription	Gastric	stomach
8	chr2:33358800-33362000	Active TSS	Ovary	ovary
9	chr2:33358800-33363200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr2:33358800-33371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:33359000-33362000	Active TSS	Psoas Muscle	Psoas
12	chr2:33359000-33362000	Active TSS	Right Atrium	heart
13	chr2:33359000-33362800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:33359000-33362800	Active TSS	Aorta	Aorta
15	chr2:33359000-33363000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:33359000-33363000	Active TSS	Stomach Smooth Muscle	stomach
17	chr2:33359200-33360400	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr2:33359200-33360600	Active TSS	Fetal Lung	lung
19	chr2:33359200-33361200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:33359200-33361200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:33359200-33361200	Active TSS	Brain Substantia Nigra	brain
22	chr2:33359200-33361600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:33359200-33362000	Active TSS	Right Ventricle	heart
24	chr2:33359200-33362600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:33359200-33362800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:33359200-33362800	Active TSS	NHDF-Ad	bronchial
27	chr2:33359200-33362800	Active TSS	NHLF	lung
28	chr2:33359400-33360600	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr2:33359400-33360600	Active TSS	Colon Smooth Muscle	Colon
30	chr2:33359400-33360800	Active TSS	Duodenum Mucosa	Duodenum
31	chr2:33359400-33361000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:33359400-33361400	Active TSS	HSMMtube	muscle
33	chr2:33359400-33361600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:33359600-33360600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:33359600-33360800	Active TSS	Fetal Intestine Large	intestine
36	chr2:33359600-33361400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:33359600-33361400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:33359600-33361600	Active TSS	Osteobl	bone
39	chr2:33359800-33360800	Active TSS	HUVEC	blood vessel
40	chr2:33359800-33361000	Active TSS	Rectal Smooth Muscle	rectum
41	chr2:33360000-33360400	Flanking Active TSS	K562	blood
42	chr2:33360000-33360800	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr2:33360000-33361000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr2:33360000-33361200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:33360000-33361200	Active TSS	Fetal Stomach	stomach
46	chr2:33360000-33361800	Enhancers	Adipose Nuclei	Adipose
47	chr2:33360000-33362000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:33360000-33363000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:33360000-33363200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr2:33360000-33367400	Weak transcription	Lung	lung

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