Variant report

Variant	rs6544337
Chromosome Location	chr2:40628394-40628395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10490045	0.90[CHB][hapmap];0.87[LWK][hapmap];0.89[YRI][hapmap]
rs10490046	0.90[CHB][hapmap]
rs12328635	0.80[ASN][1000 genomes]
rs4362610	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6544336	0.84[CEU][hapmap];0.85[CHD][hapmap];0.80[AMR][1000 genomes]
rs6730958	0.89[ASW][hapmap];0.80[LWK][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1007027	chr2:40627475-40649916	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6544337	EIF2AK2	cis	cerebellum	SCAN
rs6544337	SULT6B1	cis	parietal	SCAN
rs6544337	ABCG5	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40622200-40635600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:40622800-40630400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:40622800-40630400	Weak transcription	Psoas Muscle	Psoas
4	chr2:40623000-40630400	Weak transcription	Fetal Brain Male	brain
5	chr2:40623000-40630800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:40623000-40634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:40623600-40629800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:40623600-40635000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:40624200-40633600	Weak transcription	Dnd41	blood
11	chr2:40625400-40630600	Weak transcription	Fetal Brain Female	brain
12	chr2:40625400-40631800	Weak transcription	Right Atrium	heart
13	chr2:40626400-40628400	Enhancers	Left Ventricle	heart
14	chr2:40626400-40628400	Enhancers	Right Ventricle	heart
15	chr2:40627200-40628400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:40627400-40628400	Enhancers	Brain Anterior Caudate	brain
17	chr2:40627400-40629400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:40627400-40632800	Enhancers	HMEC	breast
19	chr2:40627400-40633000	Enhancers	NH-A	brain
20	chr2:40627600-40628400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:40627600-40628400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:40627600-40628400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:40627600-40628600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:40627600-40628600	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:40627600-40629200	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:40627600-40629400	Enhancers	Colon Smooth Muscle	Colon
27	chr2:40627600-40630800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:40627600-40631200	Enhancers	HSMM	muscle
29	chr2:40627600-40631600	Enhancers	NHEK	skin
30	chr2:40627600-40631800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:40627600-40633000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:40627600-40633000	Enhancers	NHLF	lung
33	chr2:40627800-40628400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:40627800-40628600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:40627800-40628600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:40627800-40630000	Enhancers	A549	lung
37	chr2:40627800-40632000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:40627800-40632400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:40628000-40628400	Flanking Active TSS	Fetal Heart	heart
40	chr2:40628000-40629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:40628000-40629000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:40628000-40630000	Enhancers	HUVEC	blood vessel
43	chr2:40628000-40630400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:40628000-40633000	Enhancers	Osteobl	bone
45	chr2:40628200-40628400	Enhancers	Adipose Nuclei	Adipose
46	chr2:40628200-40629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:40628200-40629200	Weak transcription	Placenta	Placenta
48	chr2:40628200-40629200	Weak transcription	HSMMtube	muscle
49	chr2:40628200-40629400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:40628200-40629400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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