Variant report

Variant	rs2540934
Chromosome Location	chr2:37088871-37088872
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	chr2:37087369..37088984-chr2:37161141..37163056,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1019311	1.00[ASW][hapmap];0.84[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10203555	1.00[MEX][hapmap]
rs10208622	1.00[MEX][hapmap]
rs10490662	1.00[TSI][hapmap]
rs11891319	1.00[TSI][hapmap]
rs11901202	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11902881	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11904545	1.00[TSI][hapmap]
rs13399683	1.00[MEX][hapmap]
rs13419776	1.00[MEX][hapmap]
rs17019851	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17019854	1.00[TSI][hapmap]
rs2072525	1.00[MEX][hapmap]
rs2072527	1.00[MEX][hapmap]
rs2110883	1.00[TSI][hapmap]
rs2247610	0.80[YRI][hapmap]
rs2254704	0.85[YRI][hapmap]
rs2540927	1.00[YRI][hapmap]
rs2540935	1.00[YRI][hapmap]
rs2540994	1.00[TSI][hapmap]
rs2691117	0.82[ASW][hapmap];1.00[TSI][hapmap]
rs2717498	1.00[YRI][hapmap]
rs2717499	0.91[ASW][hapmap]
rs2717504	1.00[YRI][hapmap]
rs2717514	1.00[YRI][hapmap]
rs2717515	0.91[ASW][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs2717521	0.84[YRI][hapmap]
rs41411646	1.00[MEX][hapmap]
rs4670606	1.00[TSI][hapmap]
rs6706964	1.00[TSI][hapmap]
rs6708710	1.00[TSI][hapmap]
rs6710234	1.00[TSI][hapmap]
rs6734109	0.83[YRI][hapmap]
rs7424163	1.00[TSI][hapmap]
rs929640	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs964853	0.85[YRI][hapmap]
rs974964	1.00[TSI][hapmap]

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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:37063000-37093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
4	chr2:37066800-37092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
7	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
8	chr2:37068400-37095600	Weak transcription	Fetal Kidney	kidney
9	chr2:37073800-37098400	Weak transcription	Colonic Mucosa	Colon
10	chr2:37074000-37089000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:37075600-37091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:37075600-37101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:37075800-37106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
16	chr2:37077000-37093200	Weak transcription	Lung	lung
17	chr2:37077000-37102400	Weak transcription	Brain Angular Gyrus	brain
18	chr2:37077000-37102400	Weak transcription	Gastric	stomach
19	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
20	chr2:37077000-37116200	Weak transcription	NHLF	lung
21	chr2:37077200-37093800	Weak transcription	K562	blood
22	chr2:37077200-37094000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:37077200-37094200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:37077200-37102400	Weak transcription	Aorta	Aorta
25	chr2:37077200-37102400	Weak transcription	Pancreas	Pancrea
26	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:37077400-37094000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:37077800-37093600	Weak transcription	NH-A	brain
30	chr2:37078000-37094000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:37078000-37098600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
33	chr2:37078400-37093600	Weak transcription	Osteobl	bone
34	chr2:37078600-37092800	Weak transcription	Esophagus	oesophagus
35	chr2:37079200-37111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:37080600-37105800	Strong transcription	Primary B cells from cord blood	blood
37	chr2:37081000-37089200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:37081600-37100200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:37081800-37089200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:37081800-37093200	Weak transcription	HMEC	breast
41	chr2:37082000-37091800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:37082000-37093800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:37082200-37115600	Weak transcription	Stomach Mucosa	stomach
44	chr2:37083000-37094000	Weak transcription	Fetal Brain Female	brain
45	chr2:37083400-37089600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:37083400-37097000	Strong transcription	Primary T cells from cord blood	blood
47	chr2:37083600-37089400	Strong transcription	Placenta	Placenta
48	chr2:37083800-37108000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:37084200-37094000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:37084200-37103200	Weak transcription	HSMMtube	muscle

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