Variant report

Variant	rs7581611
Chromosome Location	chr2:40598884-40598885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40586222..40589135-chr2:40597627..40599804,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10187203	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.85[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12474472	0.92[ASN][1000 genomes]
rs2216009	0.84[CEU][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4395287	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4952410	0.92[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs4952614	0.87[ASN][1000 genomes]
rs6712494	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6712622	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6732915	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6742210	0.93[JPT][hapmap]
rs72939984	0.80[AFR][1000 genomes]
rs7581508	1.00[CEU][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs918001	0.92[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs9309054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs994249	0.81[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.97[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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7581611	EML4	cis	parietal	SCAN
rs7581611	YT521	trans	multi-tissue	Pritchard

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40591600-40600800	Weak transcription	Psoas Muscle	Psoas
2	chr2:40592400-40605200	Weak transcription	Right Atrium	heart
3	chr2:40592800-40606600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:40593400-40607000	Weak transcription	Dnd41	blood
5	chr2:40594200-40605200	Weak transcription	Fetal Brain Female	brain
6	chr2:40595000-40611000	Weak transcription	Right Ventricle	heart
7	chr2:40596000-40601600	Enhancers	Colon Smooth Muscle	Colon
8	chr2:40596400-40600400	Enhancers	HSMM	muscle
9	chr2:40596400-40601200	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:40596400-40601400	Enhancers	Osteobl	bone
11	chr2:40596600-40599800	Enhancers	NH-A	brain
12	chr2:40597000-40601200	Enhancers	HSMMtube	muscle
13	chr2:40597000-40603400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:40597200-40599000	Enhancers	NHDF-Ad	bronchial
15	chr2:40597200-40601400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:40597400-40600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:40597400-40600600	Enhancers	Stomach Smooth Muscle	stomach
18	chr2:40597400-40600800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:40598000-40599000	Enhancers	NHLF	lung
20	chr2:40598000-40600600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:40598000-40601000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:40598200-40599000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:40598200-40601200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:40598400-40599000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:40598400-40599200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:40598400-40599400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:40598400-40599600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:40598400-40599600	Enhancers	Brain Anterior Caudate	brain
29	chr2:40598400-40599800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:40598400-40599800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:40598400-40599800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:40598400-40599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:40598400-40599800	Enhancers	Fetal Muscle Leg	muscle
34	chr2:40598400-40599800	Enhancers	Hela-S3	cervix
35	chr2:40598400-40600000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:40598400-40600000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:40598400-40600000	Enhancers	Fetal Kidney	kidney
38	chr2:40598400-40601000	Enhancers	Fetal Stomach	stomach
39	chr2:40598400-40606600	Weak transcription	Aorta	Aorta
40	chr2:40598600-40599000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:40598600-40599000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:40598600-40599400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:40598600-40600000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:40598600-40600000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:40598600-40600000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:40598600-40600200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:40598600-40600400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:40598600-40601000	Enhancers	Adipose Nuclei	Adipose
49	chr2:40598600-40601200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:40598800-40599000	Enhancers	Fetal Brain Male	brain

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