Variant report

Variant	rs1545550
Chromosome Location	chr2:33360126-33360127
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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12620839	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4670256	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952342	0.83[MEX][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

No data

Chromatin state (count:79 , 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	chr2:33358600-33360200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:33358600-33360200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:33358600-33360200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:33358600-33360200	Flanking Active TSS	Fetal Heart	heart
7	chr2:33358600-33360400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:33358600-33361200	Active TSS	Brain Anterior Caudate	brain
9	chr2:33358600-33362000	Active TSS	Brain Angular Gyrus	brain
10	chr2:33358600-33362600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:33358800-33361200	Weak transcription	Gastric	stomach
12	chr2:33358800-33362000	Active TSS	Ovary	ovary
13	chr2:33358800-33363200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr2:33358800-33371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:33359000-33360200	Flanking Active TSS	HSMM	muscle
16	chr2:33359000-33362000	Active TSS	Psoas Muscle	Psoas
17	chr2:33359000-33362000	Active TSS	Right Atrium	heart
18	chr2:33359000-33362800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:33359000-33362800	Active TSS	Aorta	Aorta
20	chr2:33359000-33363000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:33359000-33363000	Active TSS	Stomach Smooth Muscle	stomach
22	chr2:33359200-33360200	Flanking Active TSS	A549	lung
23	chr2:33359200-33360200	Bivalent Enhancer	HepG2	liver
24	chr2:33359200-33360400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr2:33359200-33360600	Active TSS	Fetal Lung	lung
26	chr2:33359200-33361200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:33359200-33361200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:33359200-33361200	Active TSS	Brain Substantia Nigra	brain
29	chr2:33359200-33361600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:33359200-33362000	Active TSS	Right Ventricle	heart
31	chr2:33359200-33362600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:33359200-33362800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:33359200-33362800	Active TSS	NHDF-Ad	bronchial
34	chr2:33359200-33362800	Active TSS	NHLF	lung
35	chr2:33359400-33360200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:33359400-33360200	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr2:33359400-33360200	Flanking Active TSS	HMEC	breast
38	chr2:33359400-33360600	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr2:33359400-33360600	Active TSS	Colon Smooth Muscle	Colon
40	chr2:33359400-33360800	Active TSS	Duodenum Mucosa	Duodenum
41	chr2:33359400-33361000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:33359400-33361400	Active TSS	HSMMtube	muscle
43	chr2:33359400-33361600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr2:33359600-33360200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:33359600-33360200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:33359600-33360200	Flanking Active TSS	NHEK	skin
47	chr2:33359600-33360600	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr2:33359600-33360800	Active TSS	Fetal Intestine Large	intestine
49	chr2:33359600-33361400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:33359600-33361400	Active TSS	Brain Inferior Temporal Lobe	brain

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